Coagulation disorders inherited

Congenital deficiency of prothrombin is inherited in an autosomal recessive fashion and is the rarest of all the hereditary coagulation disorders. Congenital dysprothrombinemia has also been recognized. 

The primary treatment of recessively inherited coagulation disorders is single-donor fresh-frozen plasma (FFP) that contains all coagulation factors. 

Recessively inherited coagulation disorders (RICDs) refer to relatively rare deficiencies in factor II, V, VII, and X-XIII resulting in either decreased clotting factor production or production of a dysfunctional molecule with reduced activity.19 The clinical severity of bleeding varies and generally is poorly correlated with the factor blood levels. Table 64-6 illustrates these clotting factor deficiencies and some of their characteristics. 

The main goal of recessively inherited coagulation disorder (RICD) treatment is to prevent and control spontaneous and surgery-related bleeding episodes. Specifically, therapeutic options improve hemostasis via replacement of deficient blood coagulation factors while minimizing the development of immune tolerance.20... 

The hemophilias are a group of related, usually inherited, bleeding disorders. Inherited bleeding disorders include abnormalities of coagulation factors as well as platelet function. When the term hemo-... 

Amitrano L, Brancacio V Guardascione MA, et al. Inherited coagulation disorder in cirrhotic patients with portal vein thrombosis. Hepatology 2000 3 I (2) 345-348. 

The most common congenital bleeding disorder, von WiUebrand disease has a prevalence of 1 % to 2%. It refers to a family of disorders caused by a quantitative and/or qualitative defect of von WiUebrand factor, a glycoprotein that plays a role in both platelet aggregation and coagulation. Unlike hemophilia, von WiUebrand disease has an autosomal inheritance pattern, resulting in an equal frequency of disease in males and females. 

Haemophilia is a sex-linked recessive inherited disorder of coagulation. 

Sloe Klotter has hemophilia A, the most frequently encountered serious ] disorder of blood coagulation in humans, occurring in 1 in every 10,000 males. The disease is transmitted with an X-linked pattern of inheritance. 

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