congenital prothrombin deficiency

Congenital prothrombin deficiency is an extremely rare hemorrhagic disorder with estimated prevalence of 1 per 2,000,000 in the general population. since the disorder is an autosomal recessive disorder, the disorder is more frequent in areas with high rate of consanguinity. clinical manifestations of the disorder are highly variable ranging from mild bleeding episodes to severe life-threatening hemorrhages. the disorder can be diagnosed based on routine and specific tests. deficiency in concentration of specific factor ii (fii) is available, but patients can receive fresh frozen plasma (ffp) and prothrombin complex concentrate (pcc). traditionally patients with prothrombin deficiency receive on-demand therapy, but secondary prophylaxis can be used for those patients with high risk of severe life-threatening bleeding. with timely diagnosis and appropriate management of disorder quality of life in these patients can significantly improve.