Hereditary hypofibrinogenemia with fibrinogen storage in the liver.
A family with hereditary autosomal dominant hypofibrinogenemia is described. The outstanding feature is massive deposition of fibrinogen/fibrin within hepatocytes, faintly visible in routine microscopic sections, but clearly demonstrable by immunohistologic techniques. Circulating fibrinogen shows normal electrophoretic mobility of A alpha-, B beta-, and gamma-chains. We assume that the hereditary defect in this family interferes with fibrinogen release from hepatocytes. Clinically there are fluctuating slight elevations of serum transaminase levels. Hemostasis and wound healing are undisturbed.
D000328:Adult; D000347:Afibrinogenemia / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D005337:Fibrin / Q000032:analysis; D005340:Fibrinogen / Q000032:analysis*; D006801:Humans; D008099:Liver / Q000032:analysis* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010375:Pedigree
D005337:Fibrin; D005340:Fibrinogen