Podcast 529: Hemophilia

Contributor: Aaron Lessen, MD

Educational Pearls:

• Hemophilia is characterized by bleeding (A /B) A is is 8, B (chrstmas, 9)
• Hemophilia refers to a group of bleeding disorders caused by a deficiency in a certain clotting factor. The two most common are hemophilia A (caused by a lack of factor VIII), and B (caused by a lack of factor 9)
• Most cases are inherited in an X-linked recessive manner. Therefore, males are the most commonly affected. However, spontaneous cases do occur in all sexes.
• People with hemophilia can present to the ED with a variety of bleeding complications including hemarthrosis, intracranial hemorrhage, and GI bleeds.
• Treatment is guided by the type of hemophilia and the degree of bleeding, with the most severe cases being treated with replacement of 100% of that person's deficient clotting factor.
• Timely treatment improves outcomes, so consider empiric therapy in those with known hemophilia

References

Hemophilia A in the third millennium.Franchini M, Mannucci PM Blood Rev. 2013 Jul;27(4):179-84. Epub 2013 Jun 28.

Rheumatic manifestations of hematologic disorders.Aviña-Zubieta JA, Galindo-Rodriguez G, Lavalle C Curr Opin Rheumatol. 1998;10(1):86.

The molecular genetics of hemophilia: blood clotting factors VIII and IX.Lawn RM Cell. 1985;42(2):405.

Guidelines for the management of hemophilia.Srivastava A, Brewer AK, Mauser-Bunschoten EP, Key NS, Kitchen S, Llinas A, Ludlam CA, Mahlangu JN, Mulder K, Poon MC, Street A, Treatment Guidelines Working Group on Behalf of The World Federation Of Hemophilia Haemophilia. 2013 Jan;19(1):e1-47. Epub 2012 Jul 6.

Summarized by Will Dewispelaere, MS4 | Edited by Erik Verzemnieks, MD