Seminars in thrombosis and hemostasis
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Inherited disorders of fibrinogen affect either the quantity (afibrinogenemia and hypofibrinogenemia) or the quality (dysfibrinogenemia) of the circulating fibrinogen or both (hypodysfibrinogenemia). Most often, patients with congenital fibrinogen disorders suffer from a bleeding diathesis but paradoxically may undergo severe thrombotic episodes. Pregnancy loss is another common clinical complication. ⋯ However, the phenotype-genotype correlation is not easy to establish, and global hemostasis assays may provide a better evaluation of the patient's hemostatic state. Replacement therapy is effective in treating bleeding episodes, but it is important to tailor individual treatments because the pharmacokinetics of fibrinogen after replacement therapy is highly variable among patients. Although the number of cases studied and identified mutations are already quite substantial, the collection and comparison of molecular, biochemical, and clinical data will continue to yield valuable information on the development and course of these diseases, as well as on the choice of the most appropriate treatments.
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Semin. Thromb. Hemost. · Jun 2009
Introduction. Rare bleeding disorders: general aspects of clinical features, diagnosis, and management.
Rare bleeding disorders (RBDs) are autosomal recessive diseases including the inherited deficiencies of coagulation factors such as fibrinogen, factor (F) II, FV, FV + FVIII, FVII, FX, FXI, FXIII, and multiple deficiency of vitamin K-dependent factors, with clinical manifestations ranging from mild to severe. They represent 3 to 5% of all the inherited coagulation deficiencies with a prevalence in the general population varying between 1 in 500,000 and 1 in 2 million, being higher in areas where consanguineous marriages are diffuse. Despite the progress made in past years, as a consequence of the rarity of these deficiencies, the type and severity of bleeding symptoms, the underlying molecular defects, the actual management of bleeding episodes and particularly the prophylactic treatment in patients affected with RBDs are not well established. In this introductory article, the main features, diagnosis, available treatment options, and treatment complications of RBDs will be discussed.