Protease-inhibitor deficiencies in a patient with Weber-Christian panniculitis.
The diagnosis of Weber-Christian disease was made by clinical and histopathologic findings in a 25-year-old woman who had recurrent nodules on the legs and arms. The patient's history also disclosed multiple episodes of swelling trauma. Histopathologic examination of the lesions showed a prominent vasculitis. Studies of serum complement and kallikrein levels and of the fibrinolysis-clotting system showed a decrease in the levels of C3, C4, and total hemolytic complement activity and deficiencies (less than 20% of the normal values) of alpha 1-antitrypsin (alpha 1-AT) and antichymotrypsin activity. Chemical analyses of the patient's alpha 1-AT indicated a PiZZ genotype. Intermediate values of both inhibitor levels were detected in six family members. It is assumed that protease-inhibitor deficiencies predispose the development of panniculitis and vasculitis on trauma.
D000328:Adult; D007611:Aprotinin / Q000097:blood; D002918:Chymotrypsin / Q000097:blood; D005260:Female; D006801:Humans; D007610:Kallikreins / Q000097:blood; D010201:Panniculitis, Nodular Nonsuppurative / Q000201:enzymology* / Q000473:pathology; D010641:Phenotype; D011480:Protease Inhibitors / Q000097:blood*; D012867:Skin / Q000473:pathology; D014357:Trypsin / Q000097:blood; D000515:alpha 1-Antitrypsin / Q000032:analysis
D011480:Protease Inhibitors; D000515:alpha 1-Antitrypsin; D007611:Aprotinin; D007610:Kallikreins; D002918:Chymotrypsin; D014357:Trypsin