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ESSENTIALS OF DIAGNOSIS

  • Predilection for females of childbearing age.

  • Multisystem disease that has a tendency to remit and relapse.

  • Photosensitive rash, polyarthritis, serositis, and fatigue are common flare manifestations.

  • Renal disease, central nervous system involvement, and complications of antiphospholipid antibodies can cause major morbidity.

  • Treatment-related morbidity, particularly from glucocorticoids, constitutes a major source of damage associated with having lupus.

  • Presence of antinuclear antibodies.

  • Certain autoantibodies (anti-dsDNA and anti-Sm) have great specificity for the diagnosis of systemic lupus erythematosus (SLE) but lack sensitivity.

  • Hypocomplementemia may occur during flares.

GENERAL CONSIDERATIONS

Systemic lupus erythematosus (SLE) is often considered to be the prototype of autoimmune disorders. The disease is characterized by the potential multisystem involvement and the production of an array of autoantibodies. Clinical features in individual patients vary greatly and sometimes change over time, ranging the presence of autoantibodies with relatively few clinical symptoms to skin and joint involvement to organ- and life-threatening disease. Waxing and waning clinical courses are typical, with quiescent periods induced by treatment punctuated by periods of disease flare.

The prevalence of SLE varies across gender, race/ethnicity, and geographic regions. SLE demonstrates a striking female predominance and a peak incidence of disease during patients’ reproductive years. In adults, the female-to-male ratio is 10–15:1. This epidemiology often leads to challenging questions surrounding the timing of conception and the maintenance of remission during pregnancy. In the United States, the estimated prevalence is 100 per 100,000 white women and 400 per 100,000 black women. SLE is more common among blacks in the United States but is rare among blacks in Africa. Approximately 160,000–320,000 people in the United States are living with SLE.

Genetic, hormonal, and environmental influences clearly all play role in disease pathogenesis, but the precise ways in which these factors sum to SLE remain uncertain. Genetic studies have revealed strong familial risk for SLE (and other forms of autoimmunity), as evidenced by a disease concordance rate of 24–58% for monozygotic twins compared with only 2–5% for dizygotic twins. Multiple genes have been associated with SLE, including the genes within the major histocompatibility complex and genes that encode components of the complement pathway, Fcγ receptors, protein tyrosine phosphatase nonreceptor type 22 (PTPN22), programmed cell death 1 (PDCD1) gene, and cytotoxic T-lymphocyte–associated antigen 4 (CTLA4).

The reasons for female sex predilection are still unknown. Some observational data suggest that sex hormones might contribute to disease onset. For example, data from the Nurses Health Study suggest that early age at menarche (relative risk 2.1), oral contraceptive use (relative risk 1.5), and use of postmenopausal hormones (relative risk 1.9) all increase the risk of SLE. Moreover, the risk of SLE among men with Klinefelter syndrome (47, XXY) is 14-fold higher compared to male controls. Large controlled trials have confirmed, however, that combined oral contraceptives do not increase the risk of SLE flares in women whose disease is stable. ...

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