Coexistence of congenital afibrinogenemia and protein C deficiency in a patient.
A rare association of congenital afibrinogenemia and hereditary protein C deficiency is described in a 37-year-old female who suffered from ischemic necrosis in the left first toe. The diagnosis of afibrinogenemia was assessed by the absence of fibrinogen in clotting and immunological assays. The diagnosis of hereditary heterozygous type I protein C deficiency was based on the evidence of proportional decreases of activity and antigen of plasma protein C in the propositus, her mother, and two maternal aunts.
Hanano
M
M
First Department of Internal Medicine, Niigata University School of Medicine, Japan.
Takahashi
H
H
Itoh
M
M
Shibata
A
A
D000328:Adult; D000347:Afibrinogenemia / Q000150:complications* / Q000151:congenital* / Q000175:diagnosis; D000941:Antigens; D001778:Blood Coagulation Disorders / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005340:Fibrinogen / Q000032:analysis; D006579:Heterozygote; D006801:Humans; D010375:Pedigree; D011486:Protein C / Q000276:immunology; D020151:Protein C Deficiency
D000941:Antigens; D011486:Protein C; D005340:Fibrinogen