Hemophilia

Discussion:

  • classic disease results from deficiency of factor VIII clotting activity;
    • hemophilia A is not caused by an absolute deficiency of factor VIII, but from an abnormal molecule making up part of the VIII clotting factor;
  • hemophilic arthropathy: pathologic changes (coag pathway / coag labs);
  • inheritance pattern:
    • sex-linked recessive;
    • affected male will have normal sons but daughters who are carriers;
    • female carriers may have abnormal coag studies or even mild bleeding diathesis, only affected males demonstrate bleeding problems;

Diff Dx:

  • Von Willebrand's disease:
    • autosomal dominant transmission, long bleeding time, decreased factor VIII antigen level, & decrease in ristocetin induced platelet aggregation;
    • infrequently causes musculoskeletal problems, may also exhibit low levels of factor VIII activity;
  • Hemophilia B: (Christmas disease)
    • dx is confirmed by abnormal PTT & low factor IX activity;
    • results from a deficiency of clotting factor IX;
    • although not as common as hemophilia A, factor IX deficiency is similar in that both diseases have sex-linked recessive inheritance, exhibit spontaneous muscle or joint hemorrhages, and commonly produce crippling arthritides;

Clinical Findings:

Radiographic Findings in Hemophilia

Medical Management of Hemophilia

Management of Specific Joints:

Complications:

  • HIV infection was common in the past common due to tainted factor VIII;
  • Antibodies to factor VIII;
    • develops in approximately 15% of classical hemophiliacs;
    • these pts have inhibitors to usual replacement therapy & therefore elective surgery is contraindicated

References

  1. Surgical management of advanced hemophilic arthropathy. An overview of 20 years' experience.
  2. Radiocolloids in the management of hemophilic arthropathy in children and adolescents.
  3. On the natural history of hemophilic pseudotumor.
  4. Surgical management of musculoskeletal involvement in hemophilic patients.
  5. Intraarticular bleeding in children with hemophilia: the prevention of arthropathy.
  6. Synovectomy in hemophilic arthropathy. A retrospective review of 17 cases.
  7. Management of fractures in hemophilia.
  8. Fractures and dislocations in hemophilia.
  9. Synoviorthesis with Colloidal Phosphorus-32 Chromic Phosphate for the Treatment of Hemophilic Arthropathy.
  10. Orthopaedic problems in hemophilia



Original Text by Clifford R. Wheeless, III, MD.

Last updated by Data Trace Staff on Wednesday, November 1, 2017 12:57 pm