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hemophilia

Classification: - coagulation factor VIII deficiency (hemophilia A)* - coagulation factor IX deficiency (hemophilia B) - coagulation factor XI deficiency - multiple coagulation factor deficiency * hemophilia A is 10X more common than hemophilia B Genetics: - family history of spontanous or unexpected bleeding Clinical manifestations: - recurrent hemarthrosis leading to chronic, crippling degenerative joint disease - intracranial hemorrhage Laboratory: - prothrombin time (PT) is normal; INR is normal - partial thromboplastin time (PTT) is prolonged - confirm coagulation factor deficiency by a mixing study with normal plasma; a) factor deficiency will correct with normal plasma b) factor inhibitor will inhibit factor in normal plasma as well & will not correct Differential diagnosis: - von Willebrand's disease - coagulation factor VIII deficiency without family history Management: - blood transfusions & coagulation factor replacement for life-threateing bleeding

Related

coagulation factor antibody

Specific

coagulation factor VII deficiency factor XI deficiency; plasma thromboplastin antecedent deficiency; Rosenthal syndrome hemophilia A; factor VIII deficiency hemophilia B; factor IX deficiency ; Christmas disease multiple coagulation factor deficiency 1 (MCFD1)

General

coagulation factor deficiency

References

  1. Medical Knowledge Self Assessment Program (MKSAP) 14, 16, 17. American College of Physicians, Philadelphia 2006, 2012, 2015
  2. Carcao MD The diagnosis and management of congenital hemophilia. Semin Thromb Hemost. 2012 Oct;38(7):727-34. PMID: 23011791
  3. Bleeding disorders https://www.nhlbi.nih.gov/health-topics/bleeding-disorders
  4. Hemophilia https://ghr.nlm.nih.gov/condition/hemophilia