Q: My doctor told me I have a positive ANA test. What does that mean?

A: Anti-nuclear antibodies (ANA) are molecules made by cells of the immune system which attack the body’s own tissues. Certain types of ANA (and other self-directed antibodies) are thought to be responsible for most of the manifestations of SLE. Since ANA are formed in virtually all patients with SLE, they are useful markers for the presence of the disease and some may reflect disease activity. Unfortunately, they are also present in other diseases and can occasionally be seen in apparently healthy individuals. For this reason, the significance of a positive test has to be interpreted in the context of each individual case.

Q: I have been evaluated by a rheumatologist over many months but I am still not diagnosed with any specific condition. It is suspected I have systemic lupus erythematosus (SLE)—why is the diagnosis taking so long?

A: Systemic lupus erythematosus (SLE) is sometimes difficult to diagnose because the clinical manifestations (such as malar rash, photosensitivity, oral ulcers and joint pain) as well as the antinuclear antibody (ANA) blood test are not specific to lupus, being seen in other conditions as well as occasionally in apparently healthy people. The greater the number and severity of these findings, the more likely they are to represent SLE. Although certain tests, such as antibodies to DNA and ENA (extractable nuclear antigens), are more specific to SLE, they are not always present in these patients. The diagnosis should be made by an experienced physician considering the entire clinical picture.

Q: I was recently diagnosed with discoid lupus. What is the likelihood of this progressing to systemic lupus erythematosus (SLE) in the future?

A: Discoid lupus erythematosus (DLE) is a chronic, disfiguring skin disease which is part of the LE (lupus erythematosus) spectrum of disease, which also includes systemic lupus erythematosus (SLE) and subacute cutaneous lupus (SCLE). It can also be a feature of SLE. Although some studies have estimated a rate of progression of DLE to SLE as high as 20 percent, two large retrospective studies showed a rate of progression of less than two percent. It is said that about ten percent of DLE cases will remit spontaneously.

The three questions listed above were answered by Dr. Alan Lash, rheumatologist, and BALF Medical Advisor.

Q: Isn’t lupus a fatal disease?

A: For most people with lupus, it is a chronic (long term) illness that affects them to a varying degree but is not fatal. Many years ago only the most severe cases were identified and a high percent of these were fatal. Some older medical books still reflect that era. With current methods of detection and more effective treatments, more than 90 percent of patients are alive ten years after diagnosis. Survival is affected by disease severity, however, and those with more severe disease are more likely to die eventually from their disease or complications of therapy than those with mild disease, in whom survival is similar to those without the disease.

Q: Is lupus a contagious disease?

A: Lupus is not an infection and as such it is not contagious. It is a disease in which the body’s defense system (immune system) erroneously attacks itself and there is good evidence of a genetic factor (or factors) in susceptibility or risk of getting lupus. This explains why people in the same family, who share genetic materials with lupus patients, are at increased risk of developing lupus.

Q: What does it mean if you have antiphospholipid antibodies?

A: Antiphospholipid antibodies are part of a group of antibodies which are associated with problems relating to abnormal blood clotting such as miscarriages, deep vein thromboses, pulmonary emboli, and strokes. They may also be related to the presence of migraine headaches and low platelet counts (thrombocytopenia). The exact mechanism by which they promote clotting is unclear. They can be found in the blood of some people with lupus and other autoimmune diseases and occasionally in people without any other known disease. A variety of blood tests are used to detect the presence of these antibodies. Often these are present without problems and no treatment is given. When illness related to phospholipid antibodies occurs, treatment usually involves use of anticoagulants (medications that inhibit blood clotting).

The above three questions were answered by Dr. Chris Ussher, rheumatologist, and Chairperson of the BALF Education Committee.