SLE is chronic and complex, and is often difficult to diagnose. First, there is no single laboratory test that can determine if a person has SLE. Second, many symptoms of SLE are similar to those of other diseases, and can come and go over weeks and months. Finally, doctors must look at a person’s medical history, rule out other diseases, and consider both physical and laboratory evidence before a SLE diagnosis. The symptoms of SLE vary from patient to patient.
As many as 70% of people with lupus have some skin symptoms. The three main categories of lesions are chronic cutaneous (discoid) lupus, subacute cutaneous lupus, and acute cutaneous lupus. People with discoid lupus may exhibit thick, red scaly patches on the skin. Similarly, subacute cutaneous lupus manifests as red, scaly patches of skin but with distinct edges. Acute cutaneous lupus manifests as a rash. Some have the classic malar rash (or butterfly rash) associated with the disease. This rash occurs in 30 to 60% of people with SLE.
There is no single diagnostic test for systemic lupus. The test you will hear most about is called the antinuclear antibody (ANA) test. This is not a specific test for lupus, however. In fact, a variety of laboratory tests are used to detect physical changes or conditions in your body that can occur with lupus. Each test result adds more information to the picture your doctor is forming of your illness.
Lupus antibodies can be transferred from the mother to the fetus and result in lupus illness in the newborn ("neonatal lupus"). This includes the development of low red cell counts (hemolytic anemia) and/or white blood cell counts (leucopenia) and platelet counts (thrombocytopenia) and skin rash. Problems can also develop in the electrical system of the baby's heart (congenital heart block). Occasionally, a pacemaker for the baby's heart is needed in this setting. Neonatal lupus and congenital heart block are more common in newborns of mothers with SLE who carry specific antibodies referred to as anti-Ro (or anti-SSA) and anti-La (or anti-SSB). (It is helpful for the newborn baby's doctor to be made aware if the mother is known to carry these antibodies, even prior to delivery. The risk of heart block is 2%; the risk of neonatal lupus is 5%.) Neonatal lupus usually clears after 6 months of age, as the mother's antibodies are slowly metabolized by the baby.
ANA screening yields positive results in many connective tissue disorders and other autoimmune diseases, and may occur in normal individuals. Subtypes of antinuclear antibodies include anti-Smith and anti-double stranded DNA (dsDNA) antibodies (which are linked to SLE) and anti-histone antibodies (which are linked to drug-induced lupus). Anti-dsDNA antibodies are highly specific for SLE; they are present in 70% of cases, whereas they appear in only 0.5% of people without SLE. The anti-dsDNA antibody titers also tend to reflect disease activity, although not in all cases. Other ANA that may occur in people with SLE are anti-U1 RNP (which also appears in systemic sclerosis and mixed connective tissue disease), SS-A (or anti-Ro) and SS-B (or anti-La; both of which are more common in Sjögren's syndrome). SS-A and SS-B confer a specific risk for heart conduction block in neonatal lupus.
Other tests for lupus depend on the symptoms patients are experiencing, says Kaplan. For example, chest X-rays and echocardiograms may be necessary to investigate fluid around the lungs and the heart. If doctors suspect nephritis is present, the patient may need a kidney biopsy. Early diagnosis and treatment can help to avoid complications, he adds.
The modern period, beginning in 1920, saw major developments in research into the cause and treatment of discoid and systemic lupus. Research conducted in the 1920s and 1930s led to the first detailed pathologic descriptions of lupus and demonstrated how the disease affected the kidney, heart, and lung tissue. A major breakthrough was made in 1948 with the discovery of the LE cell (the lupus erythematosus cell—a misnomer, as it occurs with other diseases as well). Discovered by a team of researchers at the Mayo Clinic, they discovered that the white blood cells contained the nucleus of another cell that was pushing against the white's cell proper nucleus. Noting that the invading nucleus was coated with antibody that allowed it to be ingested by a phagocytic or scavenger cell, they named the antibody that causes one cell to ingest another the LE factor and the two nuclei cell result in the LE cell. The LE cell, it was determined, was a part of an anti-nuclear antibody (ANA) reaction; the body produces antibodies against its own tissue. This discovery led to one of the first definitive tests for lupus since LE cells are found in approximately 60% of all people diagnosed with lupus. The LE cell test is rarely performed as a definitive lupus test today as LE cells do not always occur in people with SLE and can occur in individuals with other autoimmune diseases. Their presence can be helpful in establishing a diagnosis but no longer indicates a definitive SLE diagnosis.
Lupus in children tends to be more aggressive than in adults, says Dr. Pascual. The exact reasons for this are not understood. One theory is that people are born with genetic susceptibility to the disease that may be triggered by environmental factors such as a virus. “Children with the condition may have inherited a more complex set of predisposing genes,” she says. But this theory has yet to be proved.
Painless passage of blood or protein in the urine may often be the only presenting sign of kidney involvement. Acute or chronic renal impairment may develop with lupus nephritis, leading to acute or end-stage kidney failure. Because of early recognition and management of SLE, end-stage renal failure occurs in less than 5% of cases; except in the black population, where the risk is many times higher.
(C) Positive finding of antiphospholipid antibodies based on (1) an abnormal serum level of IgG or IgM anticardiolipin antibodies, (2) a positive test result for lupus anticoagulant using a standard method, or (3) a false-positive serologic test for syphilis known to be positive for =6 months and confirmed by Treponema pallidum immobilization or fluorescent treponemal antibody absorption tests
Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.
Lupus Erythematosus is a chronic autoimmune disease that causes the immune system to attack one’s body. The disease is characterized by the inflammation of various healthy tissues and organs in the body, including the joints, skin, kidneys, heart, lungs, blood vessels and brain. The severity of the disease may vary because no two cases of lupus are exactly alike.
There is no cure for SLE. Treatments may include NSAIDs, corticosteroids, immunosuppressants, hydroxychloroquine, and methotrexate. Alternative medicine has not been shown to affect the disease. Life expectancy is lower among people with SLE. SLE significantly increases the risk of cardiovascular disease with this being the most common cause of death. With modern treatment about 80% of those affected survive more than 15 years. Women with lupus have pregnancies that are higher risk but are mostly successful.
Because the symptoms of lupus can mimic so many other health problems, you may need patience while waiting for a diagnosis. Your doctor must rule out a number of other illnesses before diagnosing lupus. You may need to see a number of specialists such as doctors who treat kidney problems (nephrologists), blood disorders (hematologists) or nervous system disorders (neurologists) depending on your symptoms to help with diagnosis and treatment.
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