[Congenital afibrinogenemia with bleeding, bone cysts and antibodies to fibrinogen].
Congenital afibrinogenemia is a rare hereditary disorder which has been described in only 150 families. The main clinical manifestations include spontaneous bleeding into the skin and into the gastrointestinal and genitourinary tracts. Skeletal manifestations are seldom reported. Laboratory findings include coagulation disorders corrected by administration of plasma, cryoprecipitate or fibrinogen. Development of antibodies to treatment with fibrinogen is rare. We report congenital afibrinogenemia in a 25-year-old man with rare complications which included skeletal manifestations such as bone cysts, and the development of antibodies to fibrinogen. Fibrinogen levels could only be maintained in the normal range by continuous infusion of cryoprecipitate, but not by bolus injections.
Ra'anani
P
P
National Hemophilia Center, Tel Hashomer.
Levi
Y
Y
Varon
D
D
Gitel
S
S
Martinowitz
U
U
D000328:Adult; D000347:Afibrinogenemia / Q000150:complications / Q000151:congenital* / Q000188:drug therapy; D000917:Antibody Formation / Q000187:drug effects; D001845:Bone Cysts / Q000209:etiology / Q000503:physiopathology; D005340:Fibrinogen / Q000276:immunology / Q000627:therapeutic use*; D006801:Humans; D008297:Male
D005340:Fibrinogen