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Hemarthrosis subtalar, a rare diagnosis.

Dov Lagus Rosemberg1, Miguel Akkari1, Susana Dos Reis Braga1

  • 1Faculdade de Ciências Médicas da Santa Casa de Misericórdia de São Paulo, São Paulo, SP, Brazil.

Revista Brasileira De Ortopedia
|April 15, 2017
PubMed
Summary

This case study highlights a rare presentation of Type B hemophilia in an adult patient lacking a family history and typical symptoms. It emphasizes the importance of considering atypical presentations in diagnosing rare bleeding disorders.

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Area of Science:

  • Hematology
  • Genetics
  • Internal Medicine

Background:

  • Type B hemophilia (hemophilia B) is an X-linked recessive bleeding disorder caused by deficiency in coagulation factor IX.
  • Typically presents in childhood with a family history of bleeding disorders and characteristic clinical manifestations.

Observation:

  • The current case involves an adult patient with an unusual clinical picture suggestive of hemophilia B.
  • The patient had no prior family history of hematologic malignancies or known bleeding disorders.
  • The presentation occurred outside the typical age range for diagnosis.

Findings:

  • The diagnosis of Type B hemophilia was confirmed despite the atypical presentation.
  • This case challenges the conventional understanding of Type B hemophilia's typical patient profile and age of onset.
Keywords:
Ankle jointHemarthrosisHemophilia B

Related Experiment Videos

  • The unusual clinical picture necessitated a thorough diagnostic workup.

    • Implications:

    • Highlights the need for increased awareness of atypical presentations of hemophilia B in clinical practice.
    • Suggests that genetic factors or spontaneous mutations may play a role in cases without a family history.
    • Underscores the importance of comprehensive diagnostic evaluation for bleeding disorders, irrespective of typical patient demographics.