FVIIIMangel

FVIIIMangel is a term used primarily in German-language hematology literature to denote a deficiency of coagulation Factor VIII, equivalent to Factor VIII deficiency (FVIII) and commonly referred to in English as Hemophilia A. The term reflects the combining of FVIII (Factor VIII) with Mangel (deficiency) in German.

Factor VIII is a plasma protein that circulates bound to von Willebrand factor and functions as a cofactor for Factor IXa in the activation of Factor X, promoting thrombin generation and normal clot formation. In FVIIIMangel, FVIII activity is markedly reduced or absent, leading to impaired coagulation and a tendency toward prolonged bleeding.

Genetics and epidemiology: Most cases are congenital and inherited in an X-linked recessive pattern; prevalence is about 1 in 5,000 male births, with carrier females potentially showing milder symptoms due to lyonization.

Clinical features: Patients typically experience spontaneous or trauma-related mucosal bleeding, prolonged bleeding after injury, and recurrent joint bleeds (hemarthroses). Laboratory findings commonly include a prolonged activated partial thromboplastin time (aPTT) with a normal prothrombin time (PT). Diagnosis is confirmed by FVIII activity assays and genetic testing of the F8 gene.

Treatment and management: Replacement therapy with plasma-derived or recombinant FVIII concentrates is the standard of care, given prophylactically or on demand. Desmopressin (DDAVP) can raise FVIII levels in mild cases. Inhibitors to FVIII complicate treatment and may require bypassing agents or immune tolerance induction; ongoing gene therapy research shows promise for long-term management.

Terminology and related conditions: In English-language sources, the condition is termed FVIII deficiency or Hemophilia A; FVIIIMangel is chiefly used in German-language texts.