Periodic Fever Associated with Increased Plasma Unconjugated Etiocholanolone and Granulomatous Liver Disease: Case Report and Studies in Etiocholanolone and Cortisol Conjugation

This report describes the clinical course of a patient with recurrent febrile episodes, associated with elevated plasma unconjugated etiocholanolone during fever andnormal hormone levels during asymptomatic intervals. In addition, the patient had noncaseating granulomatous liver infiltrates and myopathy. The patient's ability to conjugate and excrete etiocholanolone, menthol and cortisol was investigated. On 2 occasions (shortly after spontaneous febrile attacks) when fever was suppressed by dexamethasone therapy and once when the patient was afebrile and not on steroids, 25 mg of etiocholanolone was given intramuscularly in oil. A large proportion of the etiocholanolone was excreted during the ensuing 24 hr, totaling 33, 72 and 56%, respectively, of the administered dose. Of the total recovered, 75, 85 and 66% were extracted after β-glucuronidase hydrolysis and the remainder after hydrolysis of sulfates by acidification and continuous ether extraction. Only traces of unconjugated etiocholanolone were exc...