What is lupus and who gets it?

Lupus is a chronic autoimmune inflammatory multisystem disease.  Most commonly it occurs in women during the childbearing years, between ages 15-45.  Women are affected ten times more often than men in this age group.  However, less frequently, both younger and older individuals may develop Lupus, however, in such cases women are affected only two times as often as men.

There is a genetic predisposition to developing an autoimmune disease such as Lupus.  A person may already have Lupus, but not be aware of it, until something triggers the disease to present itself.  Lupus may present with symptoms for the first time in the setting of a trigger such as an infection, medication, sex hormones such as estrogen, pregnancy or sun exposure.  Most often, doctors are not able to identify the specific trigger that leads to the appearance of Lupus for an individual patient.  People who have already been diagnosed with Lupus can experience a flare (a period of increased physical discomfort, illness, and/or symptoms).   More information on flares and treating flares can be found below.

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What is an autoimmune disease?

First, it is important to understand the normal way the immune system functions.  The immune system is the body’s normal defense system against foreign or non-self invaders, such as infections from the environment or tumors from within the body.  A normal immune response includes making antibodies and causing inflammation in an effort to rid the body of the foreign intruder.  Common examples of the normal immune system at work are the production of antibodies or proteins that one makes against infections, such as chicken pox, when you are first exposed to the virus.  Then, the chicken pox antibodies protect you against having the infection a second time when you are exposed to the virus again.  An example of inflammation that you can see is acne, where the skin becomes red and painful, and then develops into a pimple as the body’s response to bacteria and other foreign debris present on the skin surface.

Once we know how the immune system is supposed to work, we can begin to understand what goes wrong in Lupus.  In the setting of an autoimmune disease, such as Lupus, the immune responses are not regulated properly.  Then, the antibodies produced and the inflammatory responses that occur are mistakenly directed against your own tissues.  This mixed up reaction can occur in any organ, so recognizing the range of problems seen in Lupus patients can be difficult and confusing, and is best evaluated by a specialist such as a rheumatologist.  Many patients with Lupus start out by going to their general practitioner, or family doctor, or dermatologist, and are then referred to a rheumatology, who specializes in the diseases of Lupus.

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Is there one kind of lupus?

No.  There are four different types of Lupus.  The type most commonly seen in older individuals is related to Lupus induced by drug exposure.  This is usually a brief illness, especially if one recognizes the offending medication and it is stopped.  The second type of lupus occurs only on the skin.  This is called discoid lupus and this rash can lead to permanent scarring of the skin.  When the rash is in the scalp, it can be associated with permanent hair loss.  The third type of Lupus is the systemic form, which is the most serious form that can affect any organ in the body.  The systemic form is almost always associated with antibodies, which are detected in the blood as representatives of the immune system going haywire.  Lastly, the systemic form of lupus can also be part of an overlap syndrome that includes problems from more than one type of rheumatic autoimmune disorder such as lupus and rheumatoid arthritis

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How do you diagnose lupus?

It can be very difficult to recognize lupus and it is not unusual for this delay to occur over several years.  The varied spectrum of symptoms can happen at different times or they can occur all at the same time.  A combination of clinical symptoms, findings on an examination by a physician, and certain laboratory tests help the physician make the correct diagnosis.  It is very important to see a rheumatologist, a specialist in diagnosing and treating arthritis and autoimmune disorders, when the diagnosis of lupus is considered.

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What are the symptoms of lupus and what will the doctor look for on the examination?

The range of problems is very broad and different things are seen in individual patients.  Some specific symptoms one should look for include:

·         Unexplained fever, weight loss, fatigue

·         Arthritis with swollen joints, stiffness, and pain in the joints

·         Rashes which may be worse with sun exposure of less than one hour

·         Recurrent oral or nasal ulcers

·         Bleeding from the gums, a prolonged menstrual period, or a red rash on the legs that looks like many little pinpricks

·         Swollen legs, difficulty urinating, or foamy urine

·         Chest pain, especially worse when taking a deep breath

·         Color changes in your hands with exposure to cold

·         Muscle weakness

·         Blood clots, including stroke and heart attacks in those under the age of 45

·         Recurrent pregnancy loss

·         Seizures, hallucinations, difficulty with memory, and other neurological problems

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Why are laboratory tests needed and what type of laboratory tests should my doctor perform in order to diagnose or treat lupus?

Blood and urine tests are used to assess organ involvement, help make the diagnosis of lupus, and to see if the individual is responding to treatment.  These laboratory tests include a complete blood count, chemistry panel looking at kidney and liver function, and a urinalysis (examination of the urine) that is another way to assess kidney function.  Then, there are specific blood tests for lupus such as anti-nuclear and other antibodies, complement levels, and those that indicate an increased risk of blood clots.  Sometimes, x-rays, ultrasound examination and biopsies of organ tissues are needed depending on the symptom and organ involved.

Since the anti-nuclear antibody (ANA) test is so important, a separate but important issue is a positive test in the blood.  Normally, the body makes antibodies to fight infection, but in lupus, the body makes antibodies against its own tissues.  If you have lupus, you make an antibody directed against the nucleus of a cell that contains important cellular functional components such as DNA.  Almost all systemic lupus patients have a positive ANA test, but it is important to note that not all ANA positive tests mean that you have the disease, lupus.  It is very important to have a rheumatologist evaluate an ANA test if it is positive, since there may be reasons other than lupus for the test result to be positive, such as if you or a family member already has another autoimmune problem such as lupus or thyroid disease.

There are additional specialized tests that should be checked if the ANA test is positive and the rheumatologist thinks that lupus is a possible diagnosis.  Since lupus is characterized by making extra antibodies, blood tests that include a panel of antibodies including double stranded DNA (dsDNA), SSA, SSB, RNP, Sm, and cardiolipin should be performed.  When more than one antibody is present, this helps the rheumatologist make the diagnosis of lupus in the setting of appropriate clinical symptoms.  In addition, the specific antibodies may help predict prognosis and which symptoms might occur in the future.  For example, if the double stranded DNA antibody is present, the patient should be monitored for kidney disease.  If the anticardiolipin antibody is present, the patient may have pregnancy problems or an increased risk of blood clots.

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What is the treatment for lupus?

Treatment for lupus must be individualized for each patient. A multi-disciplinary approach is used and this includes education for the patient and family about lupus and its prognosis; counseling for lifestyle issues such as getting enough rest, adding daily exercise, quitting smoking, eating a balanced diet, and using sun protection measures daily; and prescribing medication for current symptoms and prevention of new problems.

Although there are no specific lupus drugs, treatment is directed towards the organ system that is involved and the symptoms that are present in a particular patient.  To control inflammation, physicians use non-steroidal anti-inflammatory medications (NSAIDs), but if the symptoms are not easily controlled corticosteroids such as prednisone may be prescribed.  An anti-malarial drug called hydroxychloroquine or plaquenil, is used to control skin, fatigue, and joint symptoms and also to prevent future flare-ups.  If symptoms are severe or if there are intolerable side effects from the corticosteroids, then immunosuppressive or chemotherapy medications are added.  If there is a blood clotting risk, then blood thinners or anticoagulants (heparin, lovenox, or coumadin) or antiplatelet medications (aspirin) may be used.

At the same time, prevention of complications either from lupus or its treatment must be started.  For example, hypertension (high blood pressure), hyperlipidemia (high cholesterol), osteoporosis (thin bones) should be treated.  It is important not to forget the yearly routine health maintenance visit with the primary care physician where regular check ups include a yearly pap smear or breast examination for women or a prostate examination for men, or an update of vaccination requirements for all lupus patients.

There is much hope in the lupus community as there are new treatments being developed and tested in lupus patients.  Lupus may be a new indication for medications already approved by the Federal Drug Administration (FDA) for other diseases.  For example, the use of a transplant anti-rejection medication called mycophenolate mofetil (Cellcept) is currently under study for treatment of lupus kidney disease.  Other transplant medications such as cyclosporine (Neoral) and tacrolimus (Prograf) have also been tried in lupus patients.  The safety of estrogens either for oral contraceptive, regulating menstrual function in young women is being studied in a large multicenter national study sponsored by the National Institutes of Health.  This is a very important study because previously, estrogen was not prescribed for women with lupus because of a concern that estrogens could worsen lupus.  However, estrogens are medications that are used during a woman’s life cycle, and this safety study will provide important information on if, and how, they can be safely used in lupus.  All rheumatologists eagerly await the results of this study to help us counsel patients about the use of estrogens for lupus patients.  There are other clinical trials underway using novel approaches to treat lupus using specific immune targets directed against the immunologic abnormalities in lupus.  These studies are looking at new ways to treat lupus kidney disease with better efficacy and less toxicity.

We are making a great deal of progress in the diagnosis and treatment of lupus.  This is reflected in better survival and improved quality of life for those with this chronic illness.  We anticipate that major breakthroughs are forthcoming and that we will do even better with our treatment of this disease in the near future.

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