Diagnostics

• Patient and family history

• Genetic testing

• Screening

  • Prothrombin time: normal

  • Platelet count: normal

  • Activated partial thromboplastin time (aPTT): usually prolonged

Mixin study —> First, measure the aPTT of the patient's blood. Then, mix the patient's plasma with external plasma that is known to contain sufficient clotting factors and measure the resulting aPTT. If the patient suffers from hemophilia, the aPTT will be corrected in the sample with the external plasma.

• If mixing study is positive (or if patient/family history are strongly positive) → quantitative assessment of factor activity levels

1. Substitution of clotting factors

2. Antifibrinolytic therapy

3. Emicizumab

• Mild or moderate hemophilia: when needed (e.g., trauma or surgery)

• Severe hemophilia: prophylactic (additional substitution may be needed in, e.g., trauma)

• Substitution of

  • Factor VIII concentrate for hemophilia A

  • Factor IX concentrate for hemophilia B

  • Factor XI concentrate for hemophilia C

  • Desmopressin

• Indication: mild hemophilia A

• Synthetic analog of vasopressin

• Triggers the release of vWF from endothelial cells, which leads to an increase in factor VIII plasma concentratio

(e.g., ε-Aminocaproic acid, tranexamic acid)

• Used in addition to factor substitution (e.g., if surgery is performed in the oral cavity)

• Inhibits the break down of clots to reduce the risk of bleeding

Antifibrinolytic therapy is contraindicated in patients with hematuria (usually macroscopic) due to the formation of blood clots in the urinary tract (obstructive uropathy).

• Description: a humanized monoclonal bispecific antibody that reduces the risk of bleeding events

• Therapeutic use: hemophilia A

• Mechanism of action: bridges activated factor IX and factor X by binding to both factors (thereby replacing the deficient factor VIII) → activation of factor X → restored clotting cascade