The problem facing lupus researchers is that their enemy poses an array of symptoms with no one certain cause, but, with a correct diagnosis, strides are being made against the debilitating conditions that arise.
In general, lupus is a serious autoimmune disease for which there is no cure, but treatment can be effective enough to allow many sufferers to return to the routines of normal life.
The problem lies in the immune system, whose job is to protect against infection. When working properly, it recognizes the difference between healthy and unhealthy cells. When it malfunctions, however, and attacks healthy cells even when there is no threat, the results are inflammation and autoimmune disease.
A person suffering from lupus may experience swelling and pain in the joints (arthritis), fatigue, pain and skin rashes from exposure to the sun. More severe symptoms include leg swelling that can be a sign of kidney involvement, and in some cases a person may experience a seizure or stroke.
Symptoms frequently are diverse and affect the joints, skin, kidneys, heart, lungs, nervous system, blood vessels and brain. The key to proper diagnosis is the knowledge of the variable nature of lupus. Dr. Jill Buyon, director of rheumatology and the Lupus Center at the New York University School of Medicine, says lupus may indeed represent many different diseases. Before it comes to the attention of a rheumatologist, the specialist most familiar with the disease, lupus can be mistaken for other problems and misdiagnosed.
Buyon recommends that anyone with such symptoms first see a primary care physician.
"A good primary-care physician would think of lupus when a patient arrives with a certain grouping of symptoms such as a rash across the cheeks and swollen finger joints," Buyon said, "but many PCPs (primary care physicians) aren't used to seeing the signs and symptoms that may change over time." She said a thorough health history is vital to diagnosis.
A blood sample can detect antinuclear antibodies (ANA), which are proteins produced by a malfunctioning immune system. Up to 95 percent of lupus patients will have positive ANA tests, making this an outstanding way to screen for the disease. As Buyon points out, however, otherwise healthy individuals may test positive, so other symptoms must be present to make a lupus diagnosis. Often, patients are referred to a rheumatologist.
Including the ANA test, four out of 11 criteria cited by the American College of Rheumatology must be present to confirm a lupus diagnosis. They can be found at the Lupus Research Institute's site at http://www.lupusresearchinstitute.org.
About 10 times more women than men have lupus, according to the American College of Rheumatology. It tends to begin to appear when people are in their 20s or 30s and is more prevalent in African-Americans and Asians than in Caucasians.
The earlier a lupus diagnosis is made, the better the chance for the disease to be controlled with medication, said Dr. Theresa Lu, a pediatric rheumatologist who conducts lupus research at the Hospital for Special Surgery in New York. Because lupus symptoms vary from person to person, medication is individualized, she added, and patients may be on medication for years.
Almost all lupus patients take antimalarial drugs, which often need to be used in combination with steroids and other medications to reduce the severity of the disease, according to Dr. Rosalind Ramsey-Goldman, a rheumatologist and professor of medicine at the Northwestern University Feinberg School of Medicine in Chicago. "The goal of treatment is to reduce disease activity, to get it under control and to prevent flares or active manifestations of disease and to figure out what amounts of which medications with the least amount of toxicity are needed to do that," she said.
Flares are what occur when symptoms of lupus are activated, sometimes by environmental factors, but often the trigger is unknown. They can happen at any time and can be set off by fatigue and stress. About 60 percent of lupus patients flare because of exposure to the sun, Ramsey-Goldman said. That sensitivity results in skin rashes and feelings of weakness and illness.
Not surprisingly, people in warmer climates show more signs of lupus. To guard against ultraviolet light from the sun, Ramsey-Goldman recommends staying out of the sun, scheduling outdoor activities before 10 a.m. or after 4 p.m., using high-SPF sunscreen daily no matter what the weather and reapplying it every couple of hours. She also advises wearing hats, long sleeves and sunglasses
Carole Hobbs, 65, a registered nurse in Carmel, N.Y., has lived with lupus for 15 years. Her symptoms appeared when she awoke one morning with swollen fingers. She thought she had touched something and had had an allergic reaction. As a nurse, however, she knew enough to consult her doctor. A rheumatologist had her blood drawn, and a positive ANA test along with other symptoms confirmed a lupus diagnosis.
From the beginning, doctors warned her about the sun, which she realized caused pain to flare in her joints. They put her on an antimalarial drug, but that gave her severe headaches, so she began to take ibuprofen in the morning and evening instead. For years, that controlled her symptoms. Recently, though, lupus has caused inflammation in her liver, and she has developed gallbladder problems.
Nevertheless, Hobbs has learned to live with the disease. When she has flare-ups, the joints in her hands hurt and she has difficulty making a fist. When she's exhausted, run down or stressed, she also has flare-ups, but she continues to work. There are many days when she forgets she has lupus, she said. "You have to learn to live with it, or you become an invalid," she added.
She does take sensible precautions. She sees doctors who monitor her closely on a regular schedule. She takes extra care during the summer and has come to recognize the signs of an oncoming flare. She crochets to keep her hands moving and walks as much as possible. When she knows someone is sick, she won't visit, and she takes her trips to the supermarket early in the morning when fewer people are out. Mostly she works with hospice patients and takes every step possible to avoid infections.
Buyon suggests that the best way to live with lupus is to have a solid, open and honest rapport with your doctor. Knowing a patient well enables a physician to see even the small changes that serve as a guide for treatment. She urges patients to be vigilant and informed and to get out and live their lives.