FREQUENTLY ASKED QUESTIONS ABOUT LUPUS
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)
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.
Is there only one type of lupus?
There are four types of lupus: discoid, systemic, drug-induced and neonatal lupus.
Discoid (cutaneous) lupus is always limited to the skin. It is identified by a rash that may appear on the face, neck, and scalp. Discoid lupus is diagnosed by examining a biopsy of the rash. In discoid lupus the biopsy will show abnormalities that are not found in skin without the rash. Discoid lupus does not generally involve the body’s internal organs. Therefore, the ANA test may be negative in patients with discoid lupus. However, in a large number of patients with discoid lupus, the ANA test is positive, but at a low level or “titer.”
In approximately 10 percent of patients, discoid lupus can evolve into the systemic form of the disease, which can affect almost any organ or system of the body. This cannot be predicted or prevented. Treatment of discoid lupus will not prevent its progression to the systemic form. Individuals who progress to the systemic form probably had systemic lupus at the outset, with the discoid rash as their main symptom.
Systemic lupus is usually more severe than discoid lupus, and can affect almost any organ or organ system of the body. For some people, only the skin and joints will be involved. In others, the joints, lungs, kidneys, blood, or other organs and/or tissues may be affected. Generally, no two people with systemic lupus will have identical symptoms. Systemic lupus may include periods in which few, if any, symptoms are evident (“remission”) and other times when the disease becomes more active (“flare”). Most often when people mention “lupus,” they are referring to the systemic form of the disease.
Drug-induced lupus occurs after the use of certain prescribed drugs. The symptoms of drug-induced lupus are similar to those of systemic lupus. The drugs most commonly connected with drug-induced lupus are hydralazine (used to treat high blood pressure or hypertension) and procainamide (used to treat irregular heart rhythms). Drug induced lupus is more common in men who are given these drugs more often. However, not everyone who takes these drugs will develop drug-induced lupus. Only about 4 percent of the people who take these drugs will develop the antibodies suggestive of lupus. Of those 4 percent, only an extremely small number will develop overt drug-induced lupus. The symptoms usually fade when the medications are discontinued.
Neonatal lupus is a rare condition acquired from the passage of maternal autoantibodies, specifically anti-Ro/SSA or anti-La/SSB, which can affect the skin, heart and blood of the fetus and newborn. It is associated with a rash that appears within the first several weeks of life and may persist for about six months before disappearing. Congenital heart block is much less common than the skin rash. Neonatal lupus is not systemic lupus.
How is lupus diagnosed?
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.
What are the symptoms of lupus and what will the doctor look for through 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
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
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.
What causes lupus?
Lupus is NOT infectious, rare or cancerous. Researchers do not know what causes lupus. While scientists believe there is a genetic predisposition to the disease, it is known that environmental factors also play a role in triggering the disease. Some of the factors that may trigger lupus include infections, antibiotics, ultraviolet light, extreme stress, certain drugs, and hormones. Hormonal factors may explain why lupus occurs more frequently in females than in males.
Is there a cure for lupus?
At the present time there is not a cure for lupus, but there certainly is effective treatment.
How is lupus treated?
The majority of symptoms of lupus are due to inflammation and so the treatment is aimed at reducing that inflammation. This can be done through a number of different medications. There are four families of medications used in the treatment of lupus. They include:
Nonsteroidal Anti-inflammatory Drugs – drugs such as ibuprofen (Advil & Motrin), naproxen, (Naprosyn & Aleve), sulindac (Clinoril), piroxicam (Feldene), diclofenac (Voltaren) to name a few.
Corticosteroids – drugs such as prednisone, prednisolone, medrol, deltasone, cortisone and others.
Anti-malarials – these have been found to be effective in treating the joint pain, skin rashes and ulcers that some people develop on the inside of their nose or mouth. Plaquenil (hydroxychloroquine) is probably the most commonly prescribed anti-malarial drug in the United States. There is no known relationship between lupus and malaria.
The fourth family of medications, immunosuppressants (or immunomodulating) /chemotherapy, is generally reserved for those individuals who have the most severe flares of lupus; or to enable the steroid dose to be reduced. A severe flare is one that affects an organ to the degree that the function is impaired. When this happens something has to be done to preserve the function of the organ and that’s when immunosuppressive or chemotherapy medications are prescribed. These actually suppress the over activity of the immune system brought on by the lupus, and help limit the damage and preserve the function of the involved organ. (Lupus is NOT a form of cancer).
The majority of people who have lupus are treated with the first three families of medications, the nonsteroidals, corticosteroids and the anti-malarial drugs. These may be used either alone or in combination. Since individuals respond differently to medications, it may take time before you are able to determine, through trial & error, which medication at which dose provides relief of the symptoms of lupus. Frequently physicians will try one medication see how it works and if it doesn’t work, they may have to change the dose or switch to another medication.
Where is the BEST place to go for diagnosis and treatment of lupus?
There is no one single recognized center of excellence for the treatment and diagnosis of lupus in the United States today. The Lupus Foundation of America has no mechanism by which it can rate either hospitals or physicians. The general recommendation is to find a physician that is affiliated with a medical school -a university hospital for example. These health care institutions may have faculty on staff who are involved in lupus research, and are generally the most up-to-date on the latest advances in diagnosis and treatment of lupus. These are generally regarded as very good places to go for the diagnosis and treatment of lupus. Certainly the health care institutions with established reputations fit this description.