Medical School – Coagulation Disorders/ Congenital fibrinogen deficiency

Congenital fibrinogen deficiency (Congenital afibrinogenemia) is a rare inherited blood disorder in which the blood does not clot normally due to a lack of, or a malfunction involving the protein fibrinogen. This leads to an excessive bleeding during injuries and the frequent formation of bruises and blood clots. Fibrinogen deficiency is inherited in an autosomal recessive way, so male and female patients are affected with the same probability. The frequency of congenital fibrinogen deficiency is estimated to be 1-2 cases per million people. The disease can already be diagnosed at birth due to excessive bleeding from the umbilical cord. Treatment of congenital fibrinogen deficiency is based on the replacement of fibrinogen to the body with the help of blood plasma or fibrinogen concentrates.

We continue our discussion of the coagulation pathway and dig deeper in how to interpret coagulation studies in identifying bleeding disorders.

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