Lege Artis Medicinae

[Haemophilia today]

KARDOS Mária

MAY 20, 2010

Lege Artis Medicinae - 2010;20(05)

[Haemophilia is the most well-known inherited bleeding disorder, which has an X-linked inheritance and affects men. Its severity is classified on the basis of the amount of circulating functional clotting factors: patients with values < 1% have severe disease, those with values of 1-5% have moderate disease, and those with values >5% are classified as having mild disease. Severe haemophilia is characterised by frequent, spontaneous bleeding episodes, whereas in those with moderate or mild haemophilia, bleeding is only caused by trauma or surgery. Although bleeding can occur almost anywhere, the most common clinical manifestation is haemarthrosis. Haemophilic arthrpathy that develops as a result of repeated episodes of joint haemorrhage is the most important factor of morbidity in those with haemophilia. Intravenous replacement of the missing clotting factor is used to treat and prevent bleeding episodes. Controlled therapy at home that provides immediate replacement is the optimal early approach. Prophylaxis includes administration of clotting factors at regular intervals to prevent bleeding, which must be the main goal of management until a cure becomes available. The development of inhibitors during treatment is the most significant complication of factor replacement, and management of bleeding in patients with such inhibitors is difficult.]

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