Hemophilia C
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Coagulation
- Common Pathway of Coagulation
- Extrinsic Pathway of Coagulation
- Intrinsic Pathway of Coagulation
- Hemophilia A
- Hemophilia B
- Hemophilia C
- Factor V Leiden
- Antithrombin-3 Deficiency
Summary
Hemophilia C is an autosomal recessive inherited bleeding disorder caused by a deficiency in clotting factor 11. Like most hemophilias, patients with hemophilia C present with symptoms of bleeding. This bleeding is usually milder than is seen in other hemophilias. The diagnosis of Hemophilia C can be supplemented by the lab finding of an elevated PTT.
Key Points
- Hemophilia C
- Pathogenesis
- Deficiency of Factor XI
- Genetics
- Autosomal recessive inheritance
- Presentation
- Clinical symptoms are usually milder in this syndrome vs. Hemophilias A or B
- Mild bleeding
- Usually only detected with prolonged bleeding after trauma or surgery
- Diagnosis
- Definitive: Factor XI levels
- Elevated PTT
- Due to inhibited intrinsic coagulation pathway
- Normal PT
- Extrinsic (tissue factor) pathway is unaffected
- Normal Bleeding Time
- Platelet plug formation (primary hemostasis is unaffected)
- Treatment
- Recombinant Factor XI concentrate
- Pathogenesis