Afibrinogenemia, Congenital

Description

Inherited disorders of fibrinogen affect either the quantity (afibrinogenemia and hypofibrinogenemia; {202400}) or the quality (dysfibrinogenemia ) of the circulating fibrinogen or both (hypodysfibrinogenemia; see {616004}). Afibrinogenemia is characterized by the complete absence of immunoreactive fibrinogen. Bleeding due to afibrinogenemia usually manifests in the neonatal period, with 85% of cases presenting umbilical cord bleeding, but a later age of onst is not unusual. Bleeding may occur in the skin, gastrointestinal tract, genitourinary tract, or the central nervous system, with intracranial hemorrhage being reported as the major cause of death. Patients are susceptible to spontaneous rupture of the spleen. Menstruating women may experience menometrorrhagia. First-trimester abortion is common. Both arterial and venous thromboembolic complications have been reported (summary by de Moerloose and Neerman-Arbez, 2009).Hypofibrinogenemia is characterized by reduced amounts of immunoreactive fibrinogen. Patients are often heterozygous carriers of afibrinogenemia mutations and are usually asymptomatic. However, they may bleed when exposed to trauma or if they have a second associated hemostatic abnormality. Women may experience miscarriages. Liver disease occurs in rare cases (summary by de Moerloose and Neerman-Arbez, 2009).

Clinical Features

• Abnormality of the liver
• Abnormal bleeding
• Intracranial hemorrhage
• Menometrorrhagia
• Hypofibrinogenemia
• Splenic rupture
• Dysfibrinogenemia