LEARNING ABOUT LUPUS: A USER FRIENDLY GUIDEFrom the Lupus Foundation of Delaware Valley, Inc.Edited by: Mary E. Moore, Ph.D., M.D., Carolyn H. McGrory, MS, RN, Robert S. Rosenthal, M.D.
The Skin, Sunlight and Lupus
Warren R. Heymann, MD
Sensitivity to the sun from exposure to ultraviolet light (either sunlight or artificial sources) is one of the symptoms the American College of Rheumatology uses to diagnose systemic lupus erythematosus. This chapter will review the effects of lupus on the skin and will explore what is known about the relationship between ultraviolet light and lupus. it will also discuss what the lupus patient should do to avoid the damaging effects of the sun.
The cause of lupus is unknown. Many factors may be involved in the clinical picture of lupus in a particular individual. Exposure to sunlight may play an important role either in the start of lupus in some patients or in causing flares of existing disease in others. It is important to realize that many lupus patients are not negatively affected by the sun. For this reason lupus has been called a "photoaggravated" disorder or one which may be, but is not always, made worse by the sun. Lupus represents a wide range of disease. At the less severe end of the range is discoid (chronic cutaneous) lupus.
Generally, patients with discoid lupus have few problems which affect the whole body. Most patients with discoid lupus have skin problems on the head, scalp, and neck. First these appear as red, swollen plaques (a raised circular patch of skin) while later the patients experience thinning of the skin, scarring, changes in skin color and "plugging" of the hair follicles.
Aggravation of discoid lupus by the sun is quite variable but may occur in up to 50% of patients. The more severe form of lupus is systemic lupus erythematosus. Symptoms affecting the skin are the "butterfly" rash on the nose and cheeks, hives, a net-like pattern of redness on the arms and legs ("livedo reticularis"), dilated blood vessels of the finger and toe nail folds ("periungual telangiectasias"), hair loss and ulcers of the lining (mucous membrane) of the mouth, nose, or the vagina. Sun sensitivity may occur in lupus after even mild sun exposure.
It is also possible to find sun sensitivity in a less severe form of lupus called subacute cutaneous lupus. The skin findings in this condition may resemble psoriasis or have a ring-like (annular) shape. These lesions are found in areas exposed to sunlight (i.e.. face. upper chest, upper back, and sides of the arms). Systemic findings are mild and are usually limited to joint and muscle pains. it should be emphasized that because lupus involves a range of symptoms, an individual may have any of the skin or systemic features.
Although it is evident that lupus may be negatively affected by ultraviolet radiation, little is known about how this actually occurs, Most experts agree that ultraviolet B radiation, the "sunburn" rays, (290-320 nm) are most important. There is some evidence, however, that ultraviolet A radiation, the "tanning" rays, (320-400 nm) may also result in sun sensitivity reactions. The theory behind this is that ultraviolet light may alter the DNA (deoxyribonucleic acid) of the uppermost layer of the skin (epidermal cells) so that DNA causes an immune response. DNA is the material of which genes are made. DNA which is not exposed to the sun's rays does not cause this immune response, while sun-exposed DNA does.
It is also possible that sunburn may act as a non-specific trauma or injury. Other environmental agents such as cold, heat, and wind may also aggravate lupus or cause it to begin in a previously well person. Individuals affected by lupus should learn to protect their skin from the sun. By practicing common sense measures, the sun need not be strictly avoided and the out-of-doors may be enjoyed. The midday sun should be avoided (between 11 A.M. and 2 P.M.). Use of a broad-rimmed hat or staying in the shade is encouraged, and the use of sunscreens should become a daily habit. A sunscreen with a sun protection factor (SPF) of at least 15 is recommended for the summer months.
Remember that snow reflects sunlight and if the individual likes to be outside throughout the year, use of sunscreens should be continued in all seasons. Tanning parlors are absolutely taboo for the lupus patient. It is apparent that ultraviolet rays may affect all forms of lupus, especially systemic lupus erythematosus. Although it is not understood exactly how this occurs, it is clear that by fairly simple precautions the damaging effects of sunlight on patients with lupus may be diminished or avoided altogether.
=========================================================== This information is for "informational purposes" and is not meant to be used for medical diagnosis. Always consult your physician on matters such as this.
Sunday, January 22, 2006
Genetics and Lupus
Genetics and Lupus
Raphael J. DeHoratius, MD
The most frequently asked question about lupus is, "Is lupus inherited?" The answer to this question is both "yes" and "no"! Genes, those parts of our individual make-up that we inherit from our parents, are important in the development of lupus, but the answer is much more complicated than a simple "yes". Estimates are that from four to six or more genes must be combined for a person to inherit a susceptibility to acquire lupus.
It is nearly impossible to inherit all the genes necessary to develop lupus from a single parent, since an individual's genes come from both parents. This is one very important reason why it is unusual for lupus to occur in multiple generations of a family. If only some of the lupus genes are inherited, a person may not have lupus but may test positive for some of the immunologic tests, such as the antinuclear antibody (ANA).
A positive ANA occurs in up to one third of healthy family members of lupus patients.Genetic information is coded in chromosomes which are located in humans in a tiny part of the center (nucleus) of each cell. Humans have 46 chromosomes, each of which is made up of thousands of genes. Each chromosome is divided into a long and short arm. Most of the important genes in systemic lupus erythematosus are located on the short arm of chromosome #6. The genes on chromosome #6 have many complex functions.
Some regulate complement components (proteins important in acute and chronic inflammation and in the formation of immune complexes). When these complement components are missing, a milder form of lupus, which usually lacks kidney involvement, may develop. Complement genes are important but they are not the whole story in the development of this form of lupus.
For example, many susceptible individuals who lack these genes for complement never develop lupus at all.Another important area on the short arm of chromosome #6 is the HLA (human leukocyte antigen) region. It is located next to the area for complement genes. The HLA area has been very thoroughly studied since it is used to match donors genetically to recipients for organ transplants. it is further divided into smaller regions called HLA-A, HLA-B, HLA-C, HLA-DR, HLA-DQ. In lupus patients there is an increased frequency of the HLA genes called Al, B8, Dr2, or Dr-3 and DQ1.Associations between genes and diseases such as lupus are established by comparing lupus patients to a normal or "control" population.
Particular HLA markers found in white lupus patients (on whom the majority of studies have focused) have not been shown to be present in black patients or Japanese patients with lupus. The reasons for these differences are not clear. There may be other as yet unknown genes or there may also be important genes on other chromosomes which play a part in making a person susceptible to developing lupus.
The newest research methods now being used to study genetics come from the field of molecular biology. They are redefining the way in which we look at the genetics of disease. When methods of molecular biology are used to study the HLA system in various diseases, we are finding that what looked like a specific HLA type, by our current standard tests, in reality is slightly different and Much more complex. This methodology should lead to new important findings, both in genetics and in lupus.
Another way of studying the genetics of lupus is by looking at families in which lupus occurs in more than one member. Familial cases are reported in approximately 10% of the lupus population. The most thoroughly studied family association is between twins. If one of a pair of identical twins (twins with exactly the same genes) has lupus, the other will develop it more than two thirds (69%) of the time. If a fraternal or non-identical twin (a twin with genes no more similar to his twin than to any other brother or sister) has lupus, the other twin has only a 5% chance of developing it. It is obvious that genetics are important, since the frequency of developing lupus is so much higher in identical twins than in fraternal twins when one of the twins already has lupus.
Genetic factors cannot be the only answers, however, or susceptible identical twins would both develop lupus 100% of the time. Environmental factors, therefore, must also be important. It appears that some people are genetically predisposed to develop lupus but then must be exposed to the proper environmental triggers in order to have the disease.In summary, heredity is involved in the development of lupus but it is rare to have more than one family member who has lupus.
Much is known about the genetics of lupus, yet even more needs to be discovered. It is only through careful family studies using molecular biological techniques that the answer to the genetic riddle of systemic lupus erythematosus and the relationship between heredity and environment will be solved.
=========================================================== This information is for "informational purposes" and is not meant to be used for medical diagnosis. Always consult your physician on matters such as this.
Raphael J. DeHoratius, MD
The most frequently asked question about lupus is, "Is lupus inherited?" The answer to this question is both "yes" and "no"! Genes, those parts of our individual make-up that we inherit from our parents, are important in the development of lupus, but the answer is much more complicated than a simple "yes". Estimates are that from four to six or more genes must be combined for a person to inherit a susceptibility to acquire lupus.
It is nearly impossible to inherit all the genes necessary to develop lupus from a single parent, since an individual's genes come from both parents. This is one very important reason why it is unusual for lupus to occur in multiple generations of a family. If only some of the lupus genes are inherited, a person may not have lupus but may test positive for some of the immunologic tests, such as the antinuclear antibody (ANA).
A positive ANA occurs in up to one third of healthy family members of lupus patients.Genetic information is coded in chromosomes which are located in humans in a tiny part of the center (nucleus) of each cell. Humans have 46 chromosomes, each of which is made up of thousands of genes. Each chromosome is divided into a long and short arm. Most of the important genes in systemic lupus erythematosus are located on the short arm of chromosome #6. The genes on chromosome #6 have many complex functions.
Some regulate complement components (proteins important in acute and chronic inflammation and in the formation of immune complexes). When these complement components are missing, a milder form of lupus, which usually lacks kidney involvement, may develop. Complement genes are important but they are not the whole story in the development of this form of lupus.
For example, many susceptible individuals who lack these genes for complement never develop lupus at all.Another important area on the short arm of chromosome #6 is the HLA (human leukocyte antigen) region. It is located next to the area for complement genes. The HLA area has been very thoroughly studied since it is used to match donors genetically to recipients for organ transplants. it is further divided into smaller regions called HLA-A, HLA-B, HLA-C, HLA-DR, HLA-DQ. In lupus patients there is an increased frequency of the HLA genes called Al, B8, Dr2, or Dr-3 and DQ1.Associations between genes and diseases such as lupus are established by comparing lupus patients to a normal or "control" population.
Particular HLA markers found in white lupus patients (on whom the majority of studies have focused) have not been shown to be present in black patients or Japanese patients with lupus. The reasons for these differences are not clear. There may be other as yet unknown genes or there may also be important genes on other chromosomes which play a part in making a person susceptible to developing lupus.
The newest research methods now being used to study genetics come from the field of molecular biology. They are redefining the way in which we look at the genetics of disease. When methods of molecular biology are used to study the HLA system in various diseases, we are finding that what looked like a specific HLA type, by our current standard tests, in reality is slightly different and Much more complex. This methodology should lead to new important findings, both in genetics and in lupus.
Another way of studying the genetics of lupus is by looking at families in which lupus occurs in more than one member. Familial cases are reported in approximately 10% of the lupus population. The most thoroughly studied family association is between twins. If one of a pair of identical twins (twins with exactly the same genes) has lupus, the other will develop it more than two thirds (69%) of the time. If a fraternal or non-identical twin (a twin with genes no more similar to his twin than to any other brother or sister) has lupus, the other twin has only a 5% chance of developing it. It is obvious that genetics are important, since the frequency of developing lupus is so much higher in identical twins than in fraternal twins when one of the twins already has lupus.
Genetic factors cannot be the only answers, however, or susceptible identical twins would both develop lupus 100% of the time. Environmental factors, therefore, must also be important. It appears that some people are genetically predisposed to develop lupus but then must be exposed to the proper environmental triggers in order to have the disease.In summary, heredity is involved in the development of lupus but it is rare to have more than one family member who has lupus.
Much is known about the genetics of lupus, yet even more needs to be discovered. It is only through careful family studies using molecular biological techniques that the answer to the genetic riddle of systemic lupus erythematosus and the relationship between heredity and environment will be solved.
=========================================================== This information is for "informational purposes" and is not meant to be used for medical diagnosis. Always consult your physician on matters such as this.
Saturday, January 07, 2006
LEARNING ABOUT LUPUS: Laboratory Tests in Lupus
LEARNING ABOUT LUPUS: A USER FRIENDLY GUIDE
From the Lupus Foundation of Delaware Valley, Inc.
Edited by: Mary E. Moore, Ph.D., M.D., Carolyn H. McGrory, MS, RN, Robert S. Rosenthal, M.D.
Laboratory Tests in Lupus
Burton Zweiman, MD
Most physicians with a lot of experience in the care of lupus patients can make the diagnosis of systemic lupus erythematosus based upon certain symptoms and findings when they take a medical history and do a physical examination. Sometimes, however, these physical symptoms or clinical clues are not well defined early in the course of lupus and, therefore, certain laboratory tests are useful in making the diagnosis.
Many people ask, "is there a laboratory test that can diagnose lupus in all patients?" Despite much research in this area, the answer must still be "No". There is no one test which can do this. The laboratory test performed most often is the immunofluorescence test for antinuclear antibodies (ANA). This is often simply called the ANA test. It has almost entirely replaced the older LE cell test which is more time consuming to perform and is less accurate. The ANA test is a very sensitive one. Over ninety-five percent of untreated lupus patients have high ANA levels in their blood.
A small number of individuals have an unusual lupus disorder with a negative ANA test, a rash and a high sensitivity to sunlight. For most people, however, an ANA test with negative results in several repeated tests performed in a good laboratory is strong evidence against the diagnosis of systemic lupus. The ANA test is not specific for lupus. This means that people with other diseases can also have a high ANA. Elevated blood ANA levels are found in a number of other disorders including some with symptoms similar to lupus. Sometimes this leads to confusion and a diagnosis of lupus is made in someone with another disorder just because the ANA test is abnormal. Much research has been done to expand and refine the ANA test in order to help find a test more specific for lupus. Although the ANA levels in the blood are generally higher in untreated lupus patients than in patients with other diseases, this is not always so.
A diagnosis of lupus, therefore, cannot be made only on the basis of a high ANA. It is helpful to know in diagnosing lupus that the ANA is actually a group of antibodies directed against different parts of cells within our bodies. in laboratories with special equipment, these antibodies can now be detected individually. Some of these individual antibodies are very specific for the diagnosis of lupus. Some of these are listed below:
Anti-ds (double-stranded) DNA antibodies. These are substances which react to the material which makes up the genes found in cells. Double stranded DNA also plays a key role in the growth and multiplication of these cells. increased blood levels of antidsDNA antibodies are found in about 70% of lupus patients, and found very infrequently in other disorders. However, the dsDNA used in the test must be prepared very carefully so that it does not contain single stranded DNA. Antibodies against this single stranded DNA are commonly found in disorders other than lupus, and can confuse the results of the test. Anti-dsDNA antibodies are more commonly found in lupus patients whose disease is active, particularly when the disease involves the kidneys or the central nervous system.
Anti-Sm (Smith) antibodies. These antibodies are named after the patient, a person named Smith, in whom they were first found. They react with another part of the cell nucleus, the central part of the cell, and are found in about 30% of lupus patients. Anti-Sm antibodies are found very rarely in disorders other than lupus.
Anti-Ro (or SS-A) antibodies. These are found in some lupus patients, particularly those with a certain type of sun-sensitivity rash. If a pregnant lupus patient has anti-Ro antibodies, it is more likely that her baby will have a certain type of congenital heart disorder.
Anti-Ro antibodies are also found in a disorder called Sjogren's syndrome. Sometimes lupus can occur together with Sjogren's syndrome. Antihistone antibodies. These antibodies are found in the blood of many lupus patients and are directed against a protein which is frequently attached to the DNA (the material of which genes are made) within the cell nucleus. These antibodies are of particular interest because they are also found in the blood of some people who have high ANA tests caused by taking certain medications. Recent evidence suggests that the antibodies in lupus patients react with different histones than do the antibodies in these individuals with high ANA tests related to medications.
Anti-RNP (ribonucleoprotein) antibodies. These antibodies occur commonly in lupus and some other disorders. Certain individuals (mainly women) develop a group of symptoms that do not point strongly to lupus or to one of the other connective tissue inflammatory diseases, but rather to a combination of several of these diseases. This has been called "mixed connective tissue disease" or "overlap syndrome". Anti-RNP antibody levels are often very high in this disorder.
Several other antibody tests are often performed when trying to make a diagnosis of lupus because they help tell the difference between lupus and certain other diseases. Antiscleroderma 70 (Scl70) antibody is found in one form of scleroderma. Anticentromere antibodies are found in another form of scleroderma. Anti-PM-1 and anti-Jo-1 antibodies are found in poliomyelitis. Rheumatoid factor (RF) is often found in the blood of patients with rheumatoid arthritis, a condition which can sometimes be confused with lupus.
Rheumatoid factor may also be found in the blood of about 20% of lupus patients, and in a number of other disorders. The levels of certain non-antibody proteins in the blood, called complement components, may be low in lupus patients, particularly when the disease is active. Low complement levels are not very helpful in diagnosing lupus, however, because they can be found in other diseases as well. Complement levels are more useful both in following the disease activity and the response to treatment of individual lupus patients. There are many laboratory tests which measure and identify whether or not specific organ systems are affected by luptis. These can be very valuable in the care of the individual lupus patient.
These will be discussed in other chapters dealing with involvement of individual organ systems in lupus but several examples are described briefly here.Kidney involvement in lupus can be determined by measuring the amount of protein found in the urine during a 24 hour period. The 24 hour urine collection can also be used to find out if there is any decrease in the filtering function of the kidneys and to check for growth of bacteria if an infection of the urinary tract is suspected. If enough bacteria grow when the urine is cultured, these bacteria can also be tested to help determine the best way to treat the infection.
In certain situations it may be necessary to perform a kidney biopsy to find out what type of involvement of the kidney is present. This involves inserting a needle into the kidney under local anesthesia (somewhat like having your jaw numbed to have dental work performed). One or more small pieces of kidney tissue are removed and looked at under the microscope.
Involvement of the central nervous system occurs commonly in lupus, but is often difficult to diagnose. The cerebrospinal fluid, (fluid which is present around the spinal cord and the brain), is abnormal in about 50% of those patients with central nervous system involvement in lupus. X-rays and magnetic resonance imaging (MRI) signals are now also being used to help diagnose involvement of the nervous system in lupus. Other blood tests can also be helpful for lupus patients. Anemia or a low blood count is frequently the result of disease activity. Levels in the blood of leukocytes (white blood cells), and platelets (small blood cells which are part of the clotting mechanism) may also be lower in active lupus. This happens so often that these particular abnormal findings are considered one of the criteria on which the diagnosis of lupus is based. Occasionally the platelet count is so low that a bleeding and bruising tendency may be present. In some individuals with lupus, there are abnormal blood proteins that appear to be antibodies against something in the platelets.
Platelets are involved in normal blood clotting. When these abnormal proteins are present certain blood clotting tests are abnormal (a lupus anticoagulant is detected) or the test for an antibody (anticardiolipin) is positive. What is surprising is that individuals with these antibodies do not have a bleeding tendency.
If anything, there is a tendency to develop blood clots. Women with these antibodies may have spontaneous abortions (miscarriages) if they become pregnant. This is discussed in more detail in Chapter 18 on Lupus and Pregnancy. These antibodies can also result in a false positive test for syphilis. An individual with such antibodies who is tested for syphilis when applying for a marriage license or job, or during routine admission to the hospital, may be told that the test is positive even though they do not in fact have syphilis. The reason for this is that these antibodies against platelets closely resemble the antibody that produces the positive test for syphilis.
Even though these patients do not have syphilis, their blood reacts to the test. Fortunately, this false-positive test can now be distinguished from a true-positive test for syphilis by another, more specific test for syphilis. If a person has repeated normal results using current very sensitive ANA blood tests, this is very strong evidence against a diagnosis of lupus. There is no test which is as specific for lupus as we would like. Results obtained from a group of tests can help the experienced physician distinguish lupus from other conditions with similar symptoms. In some ways they can also help to measure the response to treatment and whether or not disease activity is increasing.
Repeated measurements of certain blood tests may also help determine whether problems with the lupus patient or the fetus are developing during pregnancy. Intensive research is leading to new tests of the immune system. Hopefully, these will lead to easier diagnoses and improved treatment.
===========================================================
This information is for "informational purposes" and is not meant to be used for medical diagnosis. Always consult your physician on matters such as this.
From the Lupus Foundation of Delaware Valley, Inc.
Edited by: Mary E. Moore, Ph.D., M.D., Carolyn H. McGrory, MS, RN, Robert S. Rosenthal, M.D.
Laboratory Tests in Lupus
Burton Zweiman, MD
Most physicians with a lot of experience in the care of lupus patients can make the diagnosis of systemic lupus erythematosus based upon certain symptoms and findings when they take a medical history and do a physical examination. Sometimes, however, these physical symptoms or clinical clues are not well defined early in the course of lupus and, therefore, certain laboratory tests are useful in making the diagnosis.
Many people ask, "is there a laboratory test that can diagnose lupus in all patients?" Despite much research in this area, the answer must still be "No". There is no one test which can do this. The laboratory test performed most often is the immunofluorescence test for antinuclear antibodies (ANA). This is often simply called the ANA test. It has almost entirely replaced the older LE cell test which is more time consuming to perform and is less accurate. The ANA test is a very sensitive one. Over ninety-five percent of untreated lupus patients have high ANA levels in their blood.
A small number of individuals have an unusual lupus disorder with a negative ANA test, a rash and a high sensitivity to sunlight. For most people, however, an ANA test with negative results in several repeated tests performed in a good laboratory is strong evidence against the diagnosis of systemic lupus. The ANA test is not specific for lupus. This means that people with other diseases can also have a high ANA. Elevated blood ANA levels are found in a number of other disorders including some with symptoms similar to lupus. Sometimes this leads to confusion and a diagnosis of lupus is made in someone with another disorder just because the ANA test is abnormal. Much research has been done to expand and refine the ANA test in order to help find a test more specific for lupus. Although the ANA levels in the blood are generally higher in untreated lupus patients than in patients with other diseases, this is not always so.
A diagnosis of lupus, therefore, cannot be made only on the basis of a high ANA. It is helpful to know in diagnosing lupus that the ANA is actually a group of antibodies directed against different parts of cells within our bodies. in laboratories with special equipment, these antibodies can now be detected individually. Some of these individual antibodies are very specific for the diagnosis of lupus. Some of these are listed below:
Anti-ds (double-stranded) DNA antibodies. These are substances which react to the material which makes up the genes found in cells. Double stranded DNA also plays a key role in the growth and multiplication of these cells. increased blood levels of antidsDNA antibodies are found in about 70% of lupus patients, and found very infrequently in other disorders. However, the dsDNA used in the test must be prepared very carefully so that it does not contain single stranded DNA. Antibodies against this single stranded DNA are commonly found in disorders other than lupus, and can confuse the results of the test. Anti-dsDNA antibodies are more commonly found in lupus patients whose disease is active, particularly when the disease involves the kidneys or the central nervous system.
Anti-Sm (Smith) antibodies. These antibodies are named after the patient, a person named Smith, in whom they were first found. They react with another part of the cell nucleus, the central part of the cell, and are found in about 30% of lupus patients. Anti-Sm antibodies are found very rarely in disorders other than lupus.
Anti-Ro (or SS-A) antibodies. These are found in some lupus patients, particularly those with a certain type of sun-sensitivity rash. If a pregnant lupus patient has anti-Ro antibodies, it is more likely that her baby will have a certain type of congenital heart disorder.
Anti-Ro antibodies are also found in a disorder called Sjogren's syndrome. Sometimes lupus can occur together with Sjogren's syndrome. Antihistone antibodies. These antibodies are found in the blood of many lupus patients and are directed against a protein which is frequently attached to the DNA (the material of which genes are made) within the cell nucleus. These antibodies are of particular interest because they are also found in the blood of some people who have high ANA tests caused by taking certain medications. Recent evidence suggests that the antibodies in lupus patients react with different histones than do the antibodies in these individuals with high ANA tests related to medications.
Anti-RNP (ribonucleoprotein) antibodies. These antibodies occur commonly in lupus and some other disorders. Certain individuals (mainly women) develop a group of symptoms that do not point strongly to lupus or to one of the other connective tissue inflammatory diseases, but rather to a combination of several of these diseases. This has been called "mixed connective tissue disease" or "overlap syndrome". Anti-RNP antibody levels are often very high in this disorder.
Several other antibody tests are often performed when trying to make a diagnosis of lupus because they help tell the difference between lupus and certain other diseases. Antiscleroderma 70 (Scl70) antibody is found in one form of scleroderma. Anticentromere antibodies are found in another form of scleroderma. Anti-PM-1 and anti-Jo-1 antibodies are found in poliomyelitis. Rheumatoid factor (RF) is often found in the blood of patients with rheumatoid arthritis, a condition which can sometimes be confused with lupus.
Rheumatoid factor may also be found in the blood of about 20% of lupus patients, and in a number of other disorders. The levels of certain non-antibody proteins in the blood, called complement components, may be low in lupus patients, particularly when the disease is active. Low complement levels are not very helpful in diagnosing lupus, however, because they can be found in other diseases as well. Complement levels are more useful both in following the disease activity and the response to treatment of individual lupus patients. There are many laboratory tests which measure and identify whether or not specific organ systems are affected by luptis. These can be very valuable in the care of the individual lupus patient.
These will be discussed in other chapters dealing with involvement of individual organ systems in lupus but several examples are described briefly here.Kidney involvement in lupus can be determined by measuring the amount of protein found in the urine during a 24 hour period. The 24 hour urine collection can also be used to find out if there is any decrease in the filtering function of the kidneys and to check for growth of bacteria if an infection of the urinary tract is suspected. If enough bacteria grow when the urine is cultured, these bacteria can also be tested to help determine the best way to treat the infection.
In certain situations it may be necessary to perform a kidney biopsy to find out what type of involvement of the kidney is present. This involves inserting a needle into the kidney under local anesthesia (somewhat like having your jaw numbed to have dental work performed). One or more small pieces of kidney tissue are removed and looked at under the microscope.
Involvement of the central nervous system occurs commonly in lupus, but is often difficult to diagnose. The cerebrospinal fluid, (fluid which is present around the spinal cord and the brain), is abnormal in about 50% of those patients with central nervous system involvement in lupus. X-rays and magnetic resonance imaging (MRI) signals are now also being used to help diagnose involvement of the nervous system in lupus. Other blood tests can also be helpful for lupus patients. Anemia or a low blood count is frequently the result of disease activity. Levels in the blood of leukocytes (white blood cells), and platelets (small blood cells which are part of the clotting mechanism) may also be lower in active lupus. This happens so often that these particular abnormal findings are considered one of the criteria on which the diagnosis of lupus is based. Occasionally the platelet count is so low that a bleeding and bruising tendency may be present. In some individuals with lupus, there are abnormal blood proteins that appear to be antibodies against something in the platelets.
Platelets are involved in normal blood clotting. When these abnormal proteins are present certain blood clotting tests are abnormal (a lupus anticoagulant is detected) or the test for an antibody (anticardiolipin) is positive. What is surprising is that individuals with these antibodies do not have a bleeding tendency.
If anything, there is a tendency to develop blood clots. Women with these antibodies may have spontaneous abortions (miscarriages) if they become pregnant. This is discussed in more detail in Chapter 18 on Lupus and Pregnancy. These antibodies can also result in a false positive test for syphilis. An individual with such antibodies who is tested for syphilis when applying for a marriage license or job, or during routine admission to the hospital, may be told that the test is positive even though they do not in fact have syphilis. The reason for this is that these antibodies against platelets closely resemble the antibody that produces the positive test for syphilis.
Even though these patients do not have syphilis, their blood reacts to the test. Fortunately, this false-positive test can now be distinguished from a true-positive test for syphilis by another, more specific test for syphilis. If a person has repeated normal results using current very sensitive ANA blood tests, this is very strong evidence against a diagnosis of lupus. There is no test which is as specific for lupus as we would like. Results obtained from a group of tests can help the experienced physician distinguish lupus from other conditions with similar symptoms. In some ways they can also help to measure the response to treatment and whether or not disease activity is increasing.
Repeated measurements of certain blood tests may also help determine whether problems with the lupus patient or the fetus are developing during pregnancy. Intensive research is leading to new tests of the immune system. Hopefully, these will lead to easier diagnoses and improved treatment.
===========================================================
This information is for "informational purposes" and is not meant to be used for medical diagnosis. Always consult your physician on matters such as this.
Systemic Lupus Erythematosus LEARNING ABOUT LUPUS: A USER FRIENDLY GUIDE
Systemic Lupus Erythematosus LEARNING ABOUT LUPUS: A USER FRIENDLY GUIDE From the Lupus Foundation of Delaware Valley, Inc.
Edited by: Mary E. Moore, Ph.D., M.D., Carolyn H. McGrory, MS, RN, Robert S. Rosenthal, M.D.
Systemic lupus erythematosus (SLE or lupus) is a disease which can affect many parts of the body, can be both acute and chronic, and can cause many different symptoms. The disease can range from very mild to very severe. Among adults, nine females will have lupus for every one male. Lupus most commonly affects people between the ages of twenty and forty and occurs, therefore, most frequently in women during their child-bearing years. Three times as many black as white women are affected. Children and teens can also get lupus.
During the first ten years of life girls will have lupus three to seven times more often than boys. (Childhood lupus is the subject of Chapter 15.)The cause of lupus is not known. The immune system, which is nature's way of protecting us from infection and cancer, works improperly in patients with lupus. Certain white blood cells, the T lymphocytes, aid in control of the immune system. In lupus, these cells fail to fulfill their regulatory function and the immune system becomes active when it is not supposed to. What starts this has not been discovered.
It appears that some foreign invader, some trigger or triggers from the outside must enter the body and set this process in motion. For years the search has gone on in vain to find a virus which could act as such a trigger. We do know that sunlight and some chemicals appear to trigger lupus in some patients, though not in all. We also know that some people have an inherited tendency to develop lupus. Something in their genetic makeup makes them especially sensitive to an environmental trigger. (Chapter 4 discusses recent advances in the genetics of lupus.)To aid in the diagnosis of lupus, the American College of Rheumatology has listed various criteria (guidelines based on symptoms and laboratory tests) to be used in identifying the disease (Table 1). The list contains the problems that are most typical of lupus as compared to other similar diseases.
It is not meant to include all, or even the most common problems a patient with lupus may experience. Persons with lupus most frequently suffer from fatigue, fevers, muscle and joint aching and stiffness, swollen glands, and generalized feelings of being unwell. None of these are listed as criteria for diagnosing SLE, however, because they occur in many other diseases as well. The first of the criteria involve the skin. The best known of the skin problems in lupus is the "butterfly" rash. This is a red rash over the cheeks and the bridge of the nose (the malar area). Several other skin-related problems which commonly occur are sun sensitivity, loss of hair, red plaques (slightly raised patches of skin that have a definite border) associated with scaling and plugging of the hair follicles ("discoid" rash), hives, dryness and ulceration of the mucous membrane (mouth, nose, and vagina), and dilated and broken blood vessels. (These are discussed in more detail in Chapter 5 and referred to in Chapters 12 and Chapter 14.) The circulation of blood to the skin and the underlying tissues is sometimes temporarily decreased in lupus, this is known as Raynaud's phenomenon.
The decrease is most commonly caused by cold temperatures but can also result from psychological stress. The tips of the fingers, the tips of the toes, and occasionally the nose and the ears are affected. These areas first turn white, then blue, and finally, as the circulation returns, red. If the circulation is reduced over a long period of time, the skin may break down and ulcerations (sores) appear.Almost all lupus patients have joint pains at some time during their illness, and many have joint inflammation (swelling, warmth, redness, pain) or arthritis. The type of arthritis associated with lupus is similar to that seen in rheumatoid arthritis but is usually not as severe and does not cause a wearing away of the bone with resulting deformity. It most commonly affects the small joints of the hands, the wrists, the knees, and the feet. Sometimes patients with lupus, especially those on corticosteroids, have involvement of the bone due to a loss of blood supply.
When this occurs in the bone near a joint, degenerative arthritis may result. (See Chapter 13.)Serositis is the inflammation of the delicate tissues which cover certain internal organs and line body compartments. It is quite common in lupus, most often occurring as inflammation of the covering of the lung and the lining of its compartment in the chest (pleuritis), and as inflammation of the covering of the heart (pericarditis). Movement of the involved tissues may cause chest pain, and the doctor can often hear a characteristic "rub" when listening over the inflamed areas with a stethoscope. Abdominal pain in lupus is sometimes caused by inflammation of the covering of the intestines and the lining of the abdominal cavity (peritonitis), and can imitate pancreatitis, diverticulitis, appendicitis, etc. Fluid sometimes accumulates as a result of serositis and may have to be withdrawn by a needle. In the case of pericarditis, an operation to make an opening in the covering of the heart (a "Pericardial window") may be necessary to relieve pressure on the heart from this fluid.One of the most feared complications of lupus is involvement of the kidney.
It is present to some degree in about 50% of cases. It can vary from very mild involvement which causes the patient no symptoms, to severe disease leading to kidney failure and the need for dialysis or kidney transplantation. Doctors detect early kidney problems by discovering protein or blood cells in the urine. They frequently ask the patient to collect 24 hour urine samples so as to be able to make better estimates of the degree to which the kidney is functioning. At times it is necessary to obtain a biopsy of the kidney to look for the presence of antibodies and kidney cell damage. (Lupus and the kidney is further discussed in Chapter 6.)The central nervous system (CNS) may become involved by systemic lupus erythematosus. Such involvement may cause a variety of disorders including seizures, psychosis, paralysis and personality disorders.
Since very similar problems might be the result of infection, hardening of the arteries, or mental illness, etc., and since there is no one test for central nervous system lupus, these disorders may be difficult for the physician to diagnose. (Neurologic problems seen in lupus are discussed in detail in Chapter 7, neuropsychological testing is discussed is Chapter 8 and depression in lupus is discussed in Chapter 10.)One of the frequent disorders in lupus is a decrease in the number of white blood cells, especially the lymphocytes. Since some of the drugs used to treat lupus can also cause a decrease in the white blood cell count, monitoring the safe use of these drugs can, at times, be difficult.
The platelet is another blood cell frequently decreased in lupus. Platelets play a key role in blood clotting and having too few platelets can lead to serious bleeding disorders. Anemia, a decrease in the number of red blood cells, is almost always present in cases of active lupus. It may result from bleeding, from a bone marrow which is depressed by illness and therefore does not produce enough red blood cells, or from the destruction of red blood cells by antibodies. (More about the anemia of lupus in Chapter 11.) When the number of certain T lymphocytes is decreased, the B lymphocytes of the lupus patient are stimulated to manufacture many different antibodies. Among these are antibodies called "autoantibodies" which target the lupus patient's own tissues. The body, in essence, attacks itself. In addition to the widely known antinuclear antibody (ANA), there are many other antibodies, the presence of which aid in the diagnosis of lupus. (See Chapter 2 for a discussion of ANA, anti-DNA, anti-Sm, anti-Ro, anticardiolipin, etc.)Certain drugs in common use may cause antinuclear antibodies to develop and, therefore, cause a mild form of lupus known as drug-induced lupus.
Drug-induced lupus is characterized by muscle pain and arthritis, fever, and pleuritis. Kidney and central nervous system involvement typically do not occur. Drugs which have been associated with drug-induced lupus include antibiotics, certain thyroid medication, and drugs used to control blood pressure, seizures, and heart rhythm. Two of the most common offenders are hydralazine (Apresoline) and procainamide (Pronestyl). Because of these drug effects, it is important to know what medications a patient diagnosed as having lupus has been taking.Pregnancy is the occasion for special concern in the patient with systemic lupus erythematosus.
While pregnancy does not appear to affect the overall life expectancy of the lupus patient, lupus may flare during pregnancy and there is an increase in premature delivery and in stillbirth among lupus patients. Therefore, it is very important for the woman with lupus to seek medical help early in her pregnancy from an obstetrician who is experienced in dealing with high-risk pregnancies. (This topic is covered in Chapter 18.) Lupus may be difficult at times to diagnose and to distinguish from other connective tissues diseases and the symptoms may actually overlap with some of them. Rheumatoid arthritis involves a similar, though usually more severe, arthritis with morning stiffness.
Patients with rheumatoid arthritis may have a positive ANA in addition to a positive test for an antibody known as the rheumatoid factor. Scleroderma (systemic sclerosis) typically is associated with Raynaud's phenomenon, arthritis and a positive ANA but is characterized by the development of remarkably tight skin. Dermatomyositis involves a facial rash and may be associated with arthritis and lung disease, but profound muscle weakness also occurs. Overlapping symptoms of lupus, derrnatomyositis, and scleroderma is not uncommon. Some of these overlap cases (including those referred to as mixed connective tissue disease) respond well to treatment and do not develop significant kidney or neurologic disease.Some patients with lupus require very little treatment.
They may need only steroid skin creams or ointments and sunscreens. Other patients may require the use of simple pain medications and mild anti-inflammatory medicines such as aspirin and NSAIDS (nonsteroidal anti-inflammatory drugs) for muscle pain or arthritis. Drugs such as hydroxychloroquine (an anti-malarial medication) are used for patients with arthritis and skin disease. Adrenal corticosteroids (steroids) given by mouth are usually reserved for the more serious cases such as those with kidney or central nervous system disorders, certain blood cell problems, or serositis. To supplement steroids or to replace them when they don't work, immunosuppressive drugs, which were originally developed for use in cancer chemotherapy but have also been found to be helpful in treating lupus, are used. (These and other treatments are dealt with further in Chapter 3.)
In addition to medical treatment, there are other important considerations in the treatment of lupus. Clubs and support groups are available to offer education and psychological help. (See Chapter 19.) Physical and occupational therapy and other methods used by rehabilitation medicine can provide pain relief and can help to maintain functioning (discussed in Chapter 16). Psychotherapy and counselling can be an important addition to other forms of treatment and are available from different sources including psychiatrists, psychologists, and social workers. (These are mentioned in connection with depression in Chapter 10 and with sexual dysfunction in Chapter 17.)
Finally, one of the most helpful aspects of the treatment program is a good doctor-patient relationship. This will be the subject of an entire chapter later on (Chapter 20).Over the years, we have had more and more success in the treatment of lupus. Studies done at Johns Hopkins University in 1954 showed a survival rate less than 50% after four years. Several large studies done in the 1980's, however, revealed an approximate 87% five year survival and an approximate 78% ten year survival. A smaller study from Holland published in 1989 found an even better ten year survival of 87%! There is good reason to believe that this upward trend will continue in the future as we learn more about the disease and how to control it.
=======================================================
This information is for "informational purposes" and is not meant to be used for medical diagnosis. Always consult your physician on matters such as this.
Edited by: Mary E. Moore, Ph.D., M.D., Carolyn H. McGrory, MS, RN, Robert S. Rosenthal, M.D.
Systemic lupus erythematosus (SLE or lupus) is a disease which can affect many parts of the body, can be both acute and chronic, and can cause many different symptoms. The disease can range from very mild to very severe. Among adults, nine females will have lupus for every one male. Lupus most commonly affects people between the ages of twenty and forty and occurs, therefore, most frequently in women during their child-bearing years. Three times as many black as white women are affected. Children and teens can also get lupus.
During the first ten years of life girls will have lupus three to seven times more often than boys. (Childhood lupus is the subject of Chapter 15.)The cause of lupus is not known. The immune system, which is nature's way of protecting us from infection and cancer, works improperly in patients with lupus. Certain white blood cells, the T lymphocytes, aid in control of the immune system. In lupus, these cells fail to fulfill their regulatory function and the immune system becomes active when it is not supposed to. What starts this has not been discovered.
It appears that some foreign invader, some trigger or triggers from the outside must enter the body and set this process in motion. For years the search has gone on in vain to find a virus which could act as such a trigger. We do know that sunlight and some chemicals appear to trigger lupus in some patients, though not in all. We also know that some people have an inherited tendency to develop lupus. Something in their genetic makeup makes them especially sensitive to an environmental trigger. (Chapter 4 discusses recent advances in the genetics of lupus.)To aid in the diagnosis of lupus, the American College of Rheumatology has listed various criteria (guidelines based on symptoms and laboratory tests) to be used in identifying the disease (Table 1). The list contains the problems that are most typical of lupus as compared to other similar diseases.
It is not meant to include all, or even the most common problems a patient with lupus may experience. Persons with lupus most frequently suffer from fatigue, fevers, muscle and joint aching and stiffness, swollen glands, and generalized feelings of being unwell. None of these are listed as criteria for diagnosing SLE, however, because they occur in many other diseases as well. The first of the criteria involve the skin. The best known of the skin problems in lupus is the "butterfly" rash. This is a red rash over the cheeks and the bridge of the nose (the malar area). Several other skin-related problems which commonly occur are sun sensitivity, loss of hair, red plaques (slightly raised patches of skin that have a definite border) associated with scaling and plugging of the hair follicles ("discoid" rash), hives, dryness and ulceration of the mucous membrane (mouth, nose, and vagina), and dilated and broken blood vessels. (These are discussed in more detail in Chapter 5 and referred to in Chapters 12 and Chapter 14.) The circulation of blood to the skin and the underlying tissues is sometimes temporarily decreased in lupus, this is known as Raynaud's phenomenon.
The decrease is most commonly caused by cold temperatures but can also result from psychological stress. The tips of the fingers, the tips of the toes, and occasionally the nose and the ears are affected. These areas first turn white, then blue, and finally, as the circulation returns, red. If the circulation is reduced over a long period of time, the skin may break down and ulcerations (sores) appear.Almost all lupus patients have joint pains at some time during their illness, and many have joint inflammation (swelling, warmth, redness, pain) or arthritis. The type of arthritis associated with lupus is similar to that seen in rheumatoid arthritis but is usually not as severe and does not cause a wearing away of the bone with resulting deformity. It most commonly affects the small joints of the hands, the wrists, the knees, and the feet. Sometimes patients with lupus, especially those on corticosteroids, have involvement of the bone due to a loss of blood supply.
When this occurs in the bone near a joint, degenerative arthritis may result. (See Chapter 13.)Serositis is the inflammation of the delicate tissues which cover certain internal organs and line body compartments. It is quite common in lupus, most often occurring as inflammation of the covering of the lung and the lining of its compartment in the chest (pleuritis), and as inflammation of the covering of the heart (pericarditis). Movement of the involved tissues may cause chest pain, and the doctor can often hear a characteristic "rub" when listening over the inflamed areas with a stethoscope. Abdominal pain in lupus is sometimes caused by inflammation of the covering of the intestines and the lining of the abdominal cavity (peritonitis), and can imitate pancreatitis, diverticulitis, appendicitis, etc. Fluid sometimes accumulates as a result of serositis and may have to be withdrawn by a needle. In the case of pericarditis, an operation to make an opening in the covering of the heart (a "Pericardial window") may be necessary to relieve pressure on the heart from this fluid.One of the most feared complications of lupus is involvement of the kidney.
It is present to some degree in about 50% of cases. It can vary from very mild involvement which causes the patient no symptoms, to severe disease leading to kidney failure and the need for dialysis or kidney transplantation. Doctors detect early kidney problems by discovering protein or blood cells in the urine. They frequently ask the patient to collect 24 hour urine samples so as to be able to make better estimates of the degree to which the kidney is functioning. At times it is necessary to obtain a biopsy of the kidney to look for the presence of antibodies and kidney cell damage. (Lupus and the kidney is further discussed in Chapter 6.)The central nervous system (CNS) may become involved by systemic lupus erythematosus. Such involvement may cause a variety of disorders including seizures, psychosis, paralysis and personality disorders.
Since very similar problems might be the result of infection, hardening of the arteries, or mental illness, etc., and since there is no one test for central nervous system lupus, these disorders may be difficult for the physician to diagnose. (Neurologic problems seen in lupus are discussed in detail in Chapter 7, neuropsychological testing is discussed is Chapter 8 and depression in lupus is discussed in Chapter 10.)One of the frequent disorders in lupus is a decrease in the number of white blood cells, especially the lymphocytes. Since some of the drugs used to treat lupus can also cause a decrease in the white blood cell count, monitoring the safe use of these drugs can, at times, be difficult.
The platelet is another blood cell frequently decreased in lupus. Platelets play a key role in blood clotting and having too few platelets can lead to serious bleeding disorders. Anemia, a decrease in the number of red blood cells, is almost always present in cases of active lupus. It may result from bleeding, from a bone marrow which is depressed by illness and therefore does not produce enough red blood cells, or from the destruction of red blood cells by antibodies. (More about the anemia of lupus in Chapter 11.) When the number of certain T lymphocytes is decreased, the B lymphocytes of the lupus patient are stimulated to manufacture many different antibodies. Among these are antibodies called "autoantibodies" which target the lupus patient's own tissues. The body, in essence, attacks itself. In addition to the widely known antinuclear antibody (ANA), there are many other antibodies, the presence of which aid in the diagnosis of lupus. (See Chapter 2 for a discussion of ANA, anti-DNA, anti-Sm, anti-Ro, anticardiolipin, etc.)Certain drugs in common use may cause antinuclear antibodies to develop and, therefore, cause a mild form of lupus known as drug-induced lupus.
Drug-induced lupus is characterized by muscle pain and arthritis, fever, and pleuritis. Kidney and central nervous system involvement typically do not occur. Drugs which have been associated with drug-induced lupus include antibiotics, certain thyroid medication, and drugs used to control blood pressure, seizures, and heart rhythm. Two of the most common offenders are hydralazine (Apresoline) and procainamide (Pronestyl). Because of these drug effects, it is important to know what medications a patient diagnosed as having lupus has been taking.Pregnancy is the occasion for special concern in the patient with systemic lupus erythematosus.
While pregnancy does not appear to affect the overall life expectancy of the lupus patient, lupus may flare during pregnancy and there is an increase in premature delivery and in stillbirth among lupus patients. Therefore, it is very important for the woman with lupus to seek medical help early in her pregnancy from an obstetrician who is experienced in dealing with high-risk pregnancies. (This topic is covered in Chapter 18.) Lupus may be difficult at times to diagnose and to distinguish from other connective tissues diseases and the symptoms may actually overlap with some of them. Rheumatoid arthritis involves a similar, though usually more severe, arthritis with morning stiffness.
Patients with rheumatoid arthritis may have a positive ANA in addition to a positive test for an antibody known as the rheumatoid factor. Scleroderma (systemic sclerosis) typically is associated with Raynaud's phenomenon, arthritis and a positive ANA but is characterized by the development of remarkably tight skin. Dermatomyositis involves a facial rash and may be associated with arthritis and lung disease, but profound muscle weakness also occurs. Overlapping symptoms of lupus, derrnatomyositis, and scleroderma is not uncommon. Some of these overlap cases (including those referred to as mixed connective tissue disease) respond well to treatment and do not develop significant kidney or neurologic disease.Some patients with lupus require very little treatment.
They may need only steroid skin creams or ointments and sunscreens. Other patients may require the use of simple pain medications and mild anti-inflammatory medicines such as aspirin and NSAIDS (nonsteroidal anti-inflammatory drugs) for muscle pain or arthritis. Drugs such as hydroxychloroquine (an anti-malarial medication) are used for patients with arthritis and skin disease. Adrenal corticosteroids (steroids) given by mouth are usually reserved for the more serious cases such as those with kidney or central nervous system disorders, certain blood cell problems, or serositis. To supplement steroids or to replace them when they don't work, immunosuppressive drugs, which were originally developed for use in cancer chemotherapy but have also been found to be helpful in treating lupus, are used. (These and other treatments are dealt with further in Chapter 3.)
In addition to medical treatment, there are other important considerations in the treatment of lupus. Clubs and support groups are available to offer education and psychological help. (See Chapter 19.) Physical and occupational therapy and other methods used by rehabilitation medicine can provide pain relief and can help to maintain functioning (discussed in Chapter 16). Psychotherapy and counselling can be an important addition to other forms of treatment and are available from different sources including psychiatrists, psychologists, and social workers. (These are mentioned in connection with depression in Chapter 10 and with sexual dysfunction in Chapter 17.)
Finally, one of the most helpful aspects of the treatment program is a good doctor-patient relationship. This will be the subject of an entire chapter later on (Chapter 20).Over the years, we have had more and more success in the treatment of lupus. Studies done at Johns Hopkins University in 1954 showed a survival rate less than 50% after four years. Several large studies done in the 1980's, however, revealed an approximate 87% five year survival and an approximate 78% ten year survival. A smaller study from Holland published in 1989 found an even better ten year survival of 87%! There is good reason to believe that this upward trend will continue in the future as we learn more about the disease and how to control it.
=======================================================
This information is for "informational purposes" and is not meant to be used for medical diagnosis. Always consult your physician on matters such as this.
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