Selective C4 deficiency, systemic lupus erythematosus, and Whipple's disease

SUMMARY A 45-year-old female with selective deficiency of C4 and systemic lupus erythematosus developed puzzling gastrointestinal and systemic symptoms in the last 6 months of her life. Extensive investigation of the gastrointestinal tract did not yield any diagnosis, and the patient died shortly afterwards. Autopsy revealed evidence of a typical Whipple's disease of the jejunum and lymph nodes. This association has not been previously described. The disease is reviewed with emphasis on its being an opportunistic infection in an immunosuppressed host with a complement deficiency and SLE. A 45-year-old female previously described as the 4th case of SLE developing in a patient with C4 defi-ciency ' is reported on now because of the develop-ment of unexplained multiple systemic and gastroin-testinal symptoms in the latter part of her life. These consisted of abdominal pain, diarrhoea, fever, anaemia, and some features of malabsorption. At autopsy she was found to have Whipple's disease. This association between Whipple's disease, a systemic infection, and SLE has not been previously described. In view of the preceding complement defi-ciency and SLE in this patient the Whipple's disease could be regarded as an opportunistic infection. Case report This 45-year-old woman first presented to the lupus clinic in 1976 with a photosensitive malar rash and dystrophic nail changes. SLE had been diagnosed in 1955 in the Netherlands. The diagnosis was based on facial rash, fatigue, photosensitivity, proteinuria, thrombocytopenia, and a positive LE test. She was initially treated with oral prednisone for 2 years. She improved somewhat but subsequently had a splenec-tomy and was treated with chloroquine for 15 years. Between 1970 and 1975 she received no treatment. The malar rash persisted and became much worse in 1975, while she also developed alopecia, nail changes, arthralgias, and mucous membrane ulcers