An unusual case of sarcoidosis

• Published in: The Lancet (British edition) 2001-07, Vol.358 (9278), p.294-294
• Main Authors: Cathébras, Pascal, Sauron, Catherine, Morel, Françoise, Stasia, Marie-José
• Format: Article
• Language: English
• Subjects: Adult; Age; Amphotericin B - therapeutic use; Antibiotics; Antifungal Agents - therapeutic use; Aspergillosis; Aspergillosis - complications; Aspergillosis - diagnosis; Aspergillosis - drug therapy; Biological and medical sciences; Case reports; Case studies; Crohn Disease - diagnosis; Crohn's disease; Diagnosis; Diagnosis, Differential; Family medical history; Female; Fungal infections; Granulocytes; Granulomatous Disease, Chronic - complications; Granulomatous Disease, Chronic - diagnosis; Granulomatous Disease, Chronic - genetics; Humans; Infections; Interferon; Klebsiella pneumoniae; Medical diagnosis; Medical sciences; Patients; Pneumocystis carinii; Pneumonia; Respiratory diseases; Sarcoidosis; Sarcoidosis - diagnosis; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis; Steroids; Tomography, X-Ray Computed
• ISSN: 0140-6736; 1474-547X
• DOI: 10.1016/S0140-6736(01)05485-X

Chronic granulomatous disease is an inherited disorder of granulocyte function caused by failure of intracellular superoxide production (due to a defect of NADPH-oxidase complex), leading to recurrent life-threatening bacterial and fungal infections.1 The incidence of chronic granulomatous disease in the United States has been estimated around 1/200 000 live births.1 The majority (76%) of patients with chronic granulomatous disease are diagnosed before the age of 5 years, but some cases, especially those with the autosomal recessive forms of the disease, are diagnosed in the second or third decade of life,2,3 or even in their 6th or 7th decade.1-4 In addition to recurrent infections, patients with chronic granulomatous disease have persistent tissue granuloma formation. The most common inflammatory complications are cutaneous granulomas and inflammatory bowel disease resembling Crohn's disease. The differential diagnosis with sarcoidosis does not appear in recent reviews on chronic granulomatous disease,1,2 and hepatic granulomas seem to be a rare finding in chronic granulomatous disease. In adult patients, however, [Liese JG] et al found liver granuloma or cirrhosis in three of 11 patients,3 and one patient died at the age of 29 years from cirrhosis of the liver caused by granulomatosis. The treatment of patients with chronic granulomatous disease involves early diagnosis and aggressive treatment of infections, prophylactic antibiotics and itraconazole, and prophylactic interferon-gamma.5 Acute inflammatory complications such as gastrointestinal or urinary obstruction usually respond well to systemic steroid therapy,1 but little is known about the long-term management of hepatic granulomas. Chronic granulomatous disease should be considered in patients with granulomatosis mimicking sarcoidosis, and a history of recurrent infections.