Hemophilia
Basics
Description
Description
- Caused by deficiency of functional factor VIII or factor IX
- Lack of functional factor causes partial inactivation of coagulation cascade and impaired hemostasis
- 2 types:
- Hemophilia A: Factor VIII deficiency
- Hemophilia B (Christmas disease): Factor IX deficiency
- Symptoms dependent on factor activity:
- 5–30% factor activity (mild hemophilia):
- Bleeding with major trauma or surgery
- 1–5% factor activity (moderate hemophilia):
- Bleeding secondary to trauma/surgery
- Occasional spontaneous hemarthroses (<1 time per month)
- <1% factor activity (severe):
- Spontaneous bleeding from infancy
- May bleed as often as 1–2 times per week, often requiring factor replacement
- 5–30% factor activity (mild hemophilia):
- Complications:
- Death from hemorrhage
- Recurrent joint bleeding leads to joint destruction and loss of function
- Transfusion-transmitted infections (risk reduced with purification of concentrates)
- Development of inhibitors (IgG antibodies to factors), which prevent hemostasis
Etiology
GeneticsEtiology
- X-linked recessive, though 1/3 have a spontaneous mutation
- Rare disease:
- Hemophilia A: 1 in 5–7,000 males
- Hemophilia B: 1 in 30,000 males
- Prevalence of inhibitors: 20% of severe hemophilia A and <5% of severe hemophilia B
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Citation
Schaider, Jeffrey J., et al., editors. "Hemophilia." 5-Minute Emergency Consult, 6th ed., Lippincott Williams & Wilkins, 2020. Emergency Central, emergency.unboundmedicine.com/emergency/view/5-Minute_Emergency_Consult/307298/all/Hemophilia.
Hemophilia. In: Schaider JJJ, Barkin RMR, Hayden SRS, et al, eds. 5-Minute Emergency Consult. Lippincott Williams & Wilkins; 2020. https://emergency.unboundmedicine.com/emergency/view/5-Minute_Emergency_Consult/307298/all/Hemophilia. Accessed October 12, 2024.
Hemophilia. (2020). In Schaider, J. J., Barkin, R. M., Hayden, S. R., Wolfe, R. E., Barkin, A. Z., Shayne, P., & Rosen, P. (Eds.), 5-Minute Emergency Consult (6th ed.). Lippincott Williams & Wilkins. https://emergency.unboundmedicine.com/emergency/view/5-Minute_Emergency_Consult/307298/all/Hemophilia
Hemophilia [Internet]. In: Schaider JJJ, Barkin RMR, Hayden SRS, Wolfe RER, Barkin AZA, Shayne PP, Rosen PP, editors. 5-Minute Emergency Consult. Lippincott Williams & Wilkins; 2020. [cited 2024 October 12]. Available from: https://emergency.unboundmedicine.com/emergency/view/5-Minute_Emergency_Consult/307298/all/Hemophilia.
* Article titles in AMA citation format should be in sentence-case
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BT - 5-Minute Emergency Consult
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