Coagulopatías congénitas

Congenital coagulopathies are hemorrhagic diseases which show up during childhood and have a known familiar background. The most frequent ones are von Willenbrand's disease, which presents with mucocutaneous hemorrhages in both sexes and hemophilia A (Factor VIII deficit), which shows up with hemorrhages in joints and muscles of male patients. Diagnosis is made by functional, immunological and genetic testing. Treatment in severe cases is usually substitutive by administration of the lacking factor along with primary prophylaxis strategies. The main complication in the treatment of hemophilia is the development of inhibitors. In mild cases the chosen treatment is desmopressin. As for other less frequent congenital coagulopathies, the treatment is based in administering fresh frozen plasma, prothrombin complex factor concentrate recombinant activated factor VII.