Hypoprothrombinaemia

Congenital hypothrombinemia is an autosomal recessive inherited disease that affects men and women equally. Only a few families have been described. The plasma thrombin level is usually lower than 10% of the norm in homozygotes and 40-75% in heterozygotes.

Clinically a hemorrhagic diathesis can be observed in homozygous patients, in heterozygous patients only rarely a mild bleeding is observed. The diagnosis is based on the prolonged plasma coagulation time. The partial thromboplastin time is longer than the prothrombin time. The definitive diagnosis is made by determining the prothrombin concentration in the plasma.

1. HA Neumann (2014) The coagulation system. ABW-Wissenschaftsverlag GmbH Berlin S. 171f.