Living With Lupus: Why Is This Diagnosis So Elusive?

"Everyday, I am grateful to be living, but I realize that I have to limit some of my activities especially the time I spend outside," says Reverend Shirley Humphrey who is a young African American minister living with Lupus. Reverend Humphrey initially thought her fatigue was just part of the stress and exhaustion that comes with a busy ministry, book tours and speaking engagements. That wasn't the case.
In 2005, Reverend Humphrey was at her annual medical check-up when her physician pressed her about any other symptoms she might be experiencing. Based on her responses, Shirley's physician decided to order several tests for immune dysfunction. That's when further evaluation revealed a laboratory profile that was consistent with a diagnosis of Lupus.
Systemic lupus erythematosus (SLE), or lupus, is a chronic, inflammatory, autoimmune disease that mainly affects women of child-bearing age. Its symptoms range from unexplained fever, swollen joints, and skin rashes to severe organ damage of the kidneys, lungs, or central nervous system. African American women are three times as likely as Caucasian women to get lupus. African American women tend to develop lupus at a younger age and have more severe symptoms than Caucasian women.
Signs and Symptoms of Lupus
Patients with lupus frequently complain of fatigue (80-100%). Fever and weight loss also occurs in more than 60% of patients. Currently, there is no single laboratory test that can determine whether a person has lupus or not. To assist the physician in the diagnosis of lupus, the American College of Rheumatology issued a list of 11 symptoms or signs that help distinguish lupus from other diseases.

Sympton	Description
Malar Rash	Rash over the cheeks
Discoid Rash	Red raised patches
Photosensitivity	Reaction to sunlight, resulting in the development of or increase in skin rash
Oral Ulcers	Ulcers in the nose or mouth, usually painless
Arthritis	Nonerosive arthritis involving two or more peripheral joints (arthritis in which the bones around the joints do not become destroyed)
Serositis	Pleuritis or pericarditis (inflammation of the lining of the lung or heart)
Renal Disorder	Excessive protein in the urine (greater than 0.5 gm/day or 3+ on test sticks) and/or cellular casts (abnormal elements the urine, derived from red and/or white cells and/or kidney tubule cells)
Neurologic Disorder	Seizures (convulsions) and/or psychosis in the absence of drugs or metabolic disturbances which are known to cause such effects
Hematologic Disorder	Hemolytic anemia or leukopenia (white blood count below 4,000 cells per cubic millimeter) or lymphopenia (less than 1,500 lymphocytes per cubic millimeter) or thrombocytopenia (less than 100,000 platelets per cubic millimeter). The leukopenia and lymphopenia must be detected on two or more occasions. The thrombocytopenia must be detected in the absence of drugs known to induce it.
Antinuclear Antibody	Positive test for antinuclear antibodies (ANA) in the absence of drugs known to induce it.
Immunologic Disorder	Positive anti-double stranded anti-DNA test, positive anti-Sm test, positive antiphospholipid antibody such as anticardiolipin, or false positive syphilis test (VDRL).

Medical Evaluation and Diagnosis
If you have any of these symptoms or findings, you should make an appointment to see your doctor. The diagnosis of lupus can by difficult to make based on the fact that patients may present with only one of the above findings and not meet the strict diagnostic criteria. Occasionally your doctor may refer you to a rheumatologist who is a doctor that specializes in autoimmune disorders such as lupus.
The most useful laboratory tests identify auto-antibodies in the blood. Examples of such tests include: ANA (antinuclear antibody), anti-DNA, anti-Smith, and anti-Ro. Your doctor may choose to order some or all of these tests depending on your condition.
The Role of Genetics
A study conducted in 2003 by the Medical University of South Carolina's Gary Gilkeson, M.D., and his colleagues showed that two variant forms of a gene that promotes the formation of nitric oxide-a molecule involved in blood vessel dynamics and nerve transmission-may be a risk factor for the rheumatic disease lupus in African American women. These same gene forms have been associated with improved outcomes in some African patients with malaria.

Treatment
There is no cure for lupus, but there are treatments that can help ease your symptoms.. The goal of both the patient and the physician is to control acute severe flare-ups and develop a maintenance regimen that will suppress the symptoms.
There are several groups of medicines used to control the symptoms of lupus:

• NSAIDS: non-steroidal anti-inflammatory drugs are a class of drugs that decrease inflammation. Usually these are used in patients with joint pain, fever, and swelling. Because of different dosages and side effects, it is important to consult your doctor prior to using this class of medication.
• Corticosteroids: This class of medications remains the mainstay of treatment. These work by rapidly suppressing inflammation. These are very potent drugs, and your doctor will prescribe the lowest effective dose. Prednisone is the most common corticosteroid used.
• Immunosuppressants: This class of medications is reserved for patients with kidney and central nervous system lupus. They work by blocking the production of some immune cells.
• Other: Methotrexate, intravenous gamma globulin and anti-malarials are other medications your doctor may recommend if multiple organs are involved.

Empowerment Points

• Most patients with lupus can lead normal, active healthy lives.
• The key to managing lupus is to recognize symptoms and to treat flare ups as soon as possible.
• It is important to work closely with your doctor, and to never stop or alter your medications without first talking with your physician.
• Research continues for new treatments, improving quality of life, and prevention and cure.