Hemophilia : Wheeless' Textbook of Orthopaedics

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;

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 stages
patients may present with a recurrent knee hemarthrosis;
- diagnosis of hemophilia A is confirmed by an abnormal PTT, a normal bleeding time, and, most importantly, by a low level of factor VIII activity;
extraarticular lesions

arm and forearm:
- references:
  - Hemophilic arthropathy of the upper limb.
  - Hemophilia presenting as compartment syndrome in the arm following venipuncture. A case report and review of the literature.
elbow:
- w/ moderate destructive changes of hemophilic arthropathy, including marked hypertrophy of the radial head;
- radial head resection w/ synovectomy: (see radial head excision)
  - indicated even in presence of advanced disease;
  - will maintain joint function and will reduce frequency of hemarthrosis;
- references:
  - Synovectomy of the elbow in young hemophilic patients.
hip joint:
- there is a high rate of loosening of cemented femoral components (35% over 8 yrs);
- higher rate of infection when there is concomitant HIV infection (11%);
knee joint:
- synovectomy:
  - synovectomy is indicated when recurrent hemarthrosis continues despite optimal medical management;
  - references:
- total knee arthroplasty:
  - references:
- ankle joint:
  - references:
    - Arthropathy of the ankle in hemophilia
    - Synovectomy of the Ankle for Hemophilic Arthropathy.

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