Hemophilia natural history, complications and prognosis
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Natural History
Complications
- Severe complications are much more common in severe and moderate haemophiliacs. Complications may be both directly from the disease or from its treatment:
- Deep internal bleeding, e.g. deep-muscle bleeding, leading to swelling, numbness or pain of a limb.
- Joint damage from haemarthrosis (haemophilic arthropathy), potentially with severe pain, disfigurement, and even destruction of the joint and development of debilitatingarthritis.
- Transfusion transmitted infection from blood transfusions that are given as treatment.
- Adverse reactions to clotting factor treatment, including the development of an immune inhibitor which renders factor replacement less effective.
- Intracranial haemorrhage is a serious medical emergency caused by the buildup of pressure inside the skull. It can cause disorientation, nausea, loss of consciousness,brain damage, and death.
- Haemophilic arthropathy is characterized by chronic proliferative synovitis and cartilage destruction. If an intra-articular bleed is not drained early, it may cause apoptosis of chondrocytes and affect the synthesis of proteoglycans. The hypertrophied and fragile synovial lining while attempting to eliminate excessive blood may be more likely to easily re bleed, leading to a vicious cycle of hemarthrosis-synovitis-hemarthrosis. In addition, iron deposition in the synovium may induce an inflammatory response activating the immune system and stimulating angiogenesis, resulting in cartilage and bone destruction.