Coagulation disorders congenital

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. 

Several disorders of coagulation and fibrinolysis have been identified that lead to thrombosis or bleeding. These include von Willebrand disease (vWD), hemophilia, coagulation factor deficiencies, acquired/congenital inhibitors of coagulation, and antiphospolipid syndrome. 

Sauleda, S., Juarez, A., Esteban, J. I., Altisent, C., Ruiz, I., Puig, L., Esteban, R., Guardia, J. 2001. Interferon and ribavirin combination therapy for chronic hepatitis C in human immunodeficiency virus-infected patients with congenital coagulation disorders. Hepatology, 34(5), 1035-1040. 

Thrombosis is clearly die most common cause of death in the United States. About two million individuals die each year from an arterial or venous thrombosis or the consequences of these disorders. About 80% to 90% of all causes of dirombosis can now be defined with respect to cause. Of these, over 50% of all patients harbor a congenital or acquired blood coagulation protein or platelet defect... 

A (congenital or acquired) and type 1 von Willebrand disease, in which the VWF protein structure is normal but the plasma concentration is reduced (1). By contrast with conventional coagulation factor concentrates, desmopressin is cheap and is free from the risk of transmission of viral infections, which have proved such a problem in the past. It is also very useful in the treatment of carriers of hemophilia A, many of whom have significant reductions in the baseline concentration of factor VIII. By contrast, desmopressin has no effect on the concentration of factor IX, and is thus of no value in hemophilia B (Christmas disease). It is also of little value in type 2 (abnormal VWF structure) von Willebrand s disease, which accounts for about 15-20% of all cases. The administration of desmopressin to patients with type 2B von Willebrand s disease can be hazardous, as it is likely to cause thrombocytopenia (2). The use of desmopressin in bleeding disorders has been reviewed (3). Tachyphylaxis develops if desmopressin is used for prolonged periods to control bleeding disorders, because desmopressin causes release of stored factor VIII and von Willebrand factor, after which it takes time for them to accumulate again. 

Hemophilia is a bleeding disorder that results from a congenital deficiency in a plasma coagulation protein. Hemophilia A (classic hemophilia) is caused by a deficiency of factor VIII, while hemophilia B (Christmas disease) is caused by a deficiency of factor IX. The incidence of hemophilia A is approximately I in 5,000 male births. Hemophilia B occurs less commonly, with only one-fourth the incidence of hemophilia A. There are no significant racial differences in the incidence of hemophilia. 

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. 

Approximately 80% of hemophilia patients have hemophilia A this is a congenital bleeding disorder resulting from insufficient levels of FVIII coagulation activity, and is characterized by a prolonged clotting time. Because the FVIII gene that codes for the FVIII protein is located on the X chromosome, virtually all clinically affected individuals are male [1]. 

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