Benign symmetric lipomatosis (launois-bensaude adenolipomatosis) with gout and hyperlipoproteinemia

A thirty year old woman with Launois-Bensaude adenolipomatosis, a disease characterized by diffuse symmetric deposits of adipose tissue on the neck, back and upper trunk, has been studied. Gouty arthritis developed at age seventeen, and oligomenorrhea and muscle cramps were prominent symptoms. Pes cavus and extensor plantar reflexes were present. Metabolic studies with the patient on a purine-free diet demonstrated hyperuricemia, a marked increase in the whole body miscible pool and daily turnover of uric acid, augmented extrarenal disposal of uric acid and excessive incorporation of glycine-1- 14C into urinary uric acid. Azathioprine therapy resulted in moderate suppression of purine synthesis; this suppression was not as marked as that observed in gouty patients studied previously. Glucose tolerance in this patient was abnormal, and immunoreactive insulin response during an oral glucose tolerance test was exaggerated. Plasma triglyceride levels were elevated, and a type IV lipoprotein pattern was present. The patient's sister had a similar symmetric lipomatosis, elevated uric acid to creatinine ratio in the urine, hypertriglyceridemia and type IV lipoprotein pattern on electrophoresis.