Case Published: September, 2021
Author: Stacy Bagrova, MD (@asbagrova)
Case editor: Lisa Criscione-Schreiber, MD (@LisaCriscione)
Let’s analyze the case! Mary is a young woman presenting with pleuritic chest pain, weight loss, low grade fever, malar rash, mouth ulcer, symmetric polyarticular synovitis of small joints of her hands, pancytopenia, and elevated inflammatory markers concerning for a systemic inflammatory process. After making sure she does not have a drug reaction, endocrinopathy, and ruling out an indolent infectious process, such as endocarditis, as well as leukemia/lymphoma, we are left with autoimmune disease. Mary’s presentation is classic for SLE but it is important to look for other autoimmune conditions, such as RA, sarcoidosis, and mixed-connective tissue disease (a disorder with features of lupus, scleroderma, and myositis but not completely meeting criteria for any), as well. Further testing shows positive ANA, anti-ds-DNA and anti-smith antibodies, as well as low complement levels consistent with the diagnosis of active SLE.
SLE is an extremely complex disease, usually requiring care of a group of specialists. Below are a few teaching points to remember:
- SLE is a chronic inflammatory condition that usually affects younger individuals and is more prevalent in women (9:1) .
- The pathogenesis of SLE involves formation of autoantibodies due to loss of self-tolerance (i.e., our immune system’s ability to not react to self-antigens). The antibodies combined with their antigens attract complement and form immune complexes that deposit in tissues and cause damage through various means of inflammation; impairment of cell-mediated immunity (e.g., not involving antibodies but rather T-cells, cytokines, etc) is present as well. More on pathogenesis of lupus here.
- The diagnosis of SLE is challenging as the presentation may be very variable. Although the diagnostic criteria, such as SLICC and ACR/EULAR, were designed for standardization of patient populations in clinical trials, they severe as a good guide for determining which signs and symptoms should make you think of SLE. In general, look for oral ulcers, alopecia, malar rash, rash occurring within 30 minutes of sun exposure in sun-exposed areas, serositis, arthritis, glomerulonephritis, cytopenias, elevated ESR.
- Note: Positive ANA ≠ SLE but the majority of SLE patients are ANA positive.
- The most common causes of death in SLE are cardiovascular disease (CVD), infections, and disease-specific manifestations such as lupus nephritis (2,3).
- Treatment of SLE usually involves immunosuppression, with particular agents chosen based on severity of the disease and organs involved. In general, hydroxychloroquine is the cornerstone of therapy, as studies consistently demonstrate that it increases survival in SLE (4,5). It is recommended for all SLE patients unless serious contraindications exist (6).
- SLE patients require frequent monitoring for development of flares, kidney involvement, and toxicity from treatment (classic example is retinal disease from hydroxychloroquine).
- It is very important to remember that most of the immunosuppressive treatments are teratogenic, so contraception and careful family planning to ensure the best outcomes for the mother and the baby are crucial. Check out this website for more information for providers and patients.