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Hemophilia

Last updated: January 20, 2021

Summary

Hemophilias are disorders of blood clotting and consequently may lead to serious bleeding. In the majority of cases, these disorders are hereditary. There are three types of hemophilia, determined based on which clotting factor is deficient: hemophilia A (factor VIII), hemophilia B (factor IX), and hemophilia C (factor XI). All types result in impaired secondary hemostasis (plasmatic coagulation) that manifests as increased activated partial thromboplastin time (aPTT). Hemophilia presents with hemarthrosis (bleeding into joints) and muscular or soft tissue hematomas. Depending on the remaining clotting factor activity, bleeding may occur spontaneously or in response to trauma of varying severity. Repeated hemarthrosis can eventually lead to joint destruction, a serious long-term complication of hemophilia. Diagnosis is based on patient history and a mix of semiquantitative and quantitative measurements of clotting factor activity. Severe hemophilia (enzyme activity < 1%) is treated with prophylactic substitution of clotting factors, whereas mild hemophilia A, in particular, can also be treated with desmopressin, a synthetic vasopressin analog.

Etiology

Hemophilia usually affects males, as it is primarily an X-linked recessive disease!

References:[1][2][3]

Clinical features

Petechial bleeding is a common sign of platelet disorders, NOT coagulation disorders such as hemophilia!

  • The degree of bleeding and, therefore, severity of hemophilia depends on residual factor activity levels; normal reference activity is > 50%
Severity Clinical signs Factor VIII or IX activity
Mild hemophilia Hematomas following severe trauma > 5% to < 50%
Moderate hemophilia Hematomas following mild trauma ≥ 1% to 5%
Severe hemophilia Spontaneous hematomas < 1%

Diagnostics

References:[4]

Treatment

References:[7]

References

  1. Le T, Bhushan V, Chen V, King M. First Aid for the USMLE Step 2 CK. McGraw-Hill Education ; 2015
  2. Zaiden RA. Hemophilia B. In: Nagalla S, Hemophilia B. New York, NY: WebMD. http://emedicine.medscape.com/article/779434-overview. Updated: March 11, 2016. Accessed: February 8, 2017.
  3. World Federation of Hemophilia Report on the ANNUAL GLOBAL SURVEY 2008.
  4. Drelich DA, Nagalla S. Hemophilia A. Hemophilia A. New York, NY: WebMD. http://emedicine.medscape.com/article/779322-overview. Updated: May 2, 2017. Accessed: August 30, 2017.
  5. Witmer C, Young G. Factor VIII inhibitors in hemophilia A: rationale and latest evidence. Therapeutic Advances in Hematology. 2012; 4 (1): p.59-72. doi: 10.1177/2040620712464509 . | Open in Read by QxMD
  6. Candy V, Whitworth H, Grabell J, et al. A decreased and less sustained desmopressin response in hemophilia A carriers contributes to bleeding. Blood Advances. 2018; 2 (20): p.2629-2636. doi: 10.1182/bloodadvances.2018023713 . | Open in Read by QxMD
  7. Kasper DL, Fauci AS, Hauser SL, Longo DL, Lameson JL, Loscalzo J. Harrison's Principles of Internal Medicine. McGraw-Hill Education ; 2015