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Hemophilia

Toussaint L Mears-Clarke, MD Reviewed 06/2021
 


BASICS

DESCRIPTION

  • Deficiency of factor VIII (hemophilia A) or factor IX (hemophilia B) coagulation proteins leading to bleeding tendencies in affected individuals. The majority of cases are due to inh...

DIAGNOSIS

  • History and initial presentation

    • 2/3 of presenting hemophilic patients have a positive family history. All male infants born to known carriers should have factor level testing.

    • Prolonged bleed...

TREATMENT

GENERAL MEASURES

  • Optimal care is provided via an integrated, multidisciplinary, comprehensive care model, including hematologist, physical therapist, nurse, and social worker (1)[A].

  • Treat e...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

Patient Monitoring

Regular evaluations every 6 to 12 months, including a musculoskeletal evaluation, an inhibitor screen, liver tests, and tests for antibodies to ...

REFERENCES

1
Srivastava A, Santagostino E, Dougall A, et al; WFH Guidelines for the Management of Hemophilia, 3rd edition. Haemophilia. 2020;00:1-158

ADDITIONAL READING

Hartmann  J, Croteau  S. 2017 clinical trials update: innovations in hemophilia therapy. Am J Hematol.  2016;91(12):1252–1260. [View Abstract on OvidMedlin...

CODES

ICD10

  • D66 Hereditary factor VIII deficiency

  • D68.1 Hereditary factor XI deficiency

  • D67 Hereditary factor IX deficiency

  • Z14.02 Symptomatic hemophilia A carrier

  • Z14.01 Asymptomatic hemophilia A carrier

  • Z...

CLINICAL PEARLS

  • Deficiency of factor VIII (hemophilia A) or factor IX (hemophilia B) coagulation proteins leading to bleeding tendencies in affected individuals

  • The majority of hemophilia cases are due...

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