Cyclophosphamide therapy for Weber-Christian disease associated with alpha 1-antitrypsin deficiency

Weber-Christian disease is an uncommon disorder of unclear etiology whose unifying feature is fatty tissue inflammation. Its association with alpha 1-antitrypsin deficiency produces severe clinical manifestations. Although many agents have been used to treat Weber-Christian disease, current therapy is based on the poorly documented use of corticosteroids. We have reported the case of a young man with life-threatening Weber-Christian disease associated with alpha 1-antitrypsin deficiency unresponsive to corticosteroids who responded to cyclophosphamide.