• E Briët and E P Mauser-Bunschoten.
• Afd. Inwendige Geneeskunde, Amsterdam. Academisch Medisch Centrum.
• Ned Tijdschr Geneeskd. 1997 Dec 27; 141 (52): 2566-71.

AbstractHaemophilia is an X-linked clotting disease occurring in 1400 men in the Netherlands. As the result of factor VIII or IX deficiency, haemophilia patients suffer from severe bleedings, spontaneous or caused by trauma. Bleedings mostly occur in major joints and muscles. Repeated bleedings can cause disability. Treatment of haemophilia consists of replacement therapy with factor VIII or IX. The first aim of treatment is to prevent bleedings (prophylaxis). The second aim is to limit joint damage in case of bleeding by timely and adequate substitution therapy. In addition, physical therapy and sports are used to keep patients in shape. Until the introduction of recombinant factor VIII in 1992 only plasma derived factor VIII and IX products were available. Substitution therapy has caused various side effects, such as allergic reactions. Since the introduction of ultra-pure concentrates, allergic reactions have grown rare. Viral infections like HIV and hepatitis C, which were transmitted through blood products, have not occurred in Dutch haemophilia patients since the introduction of adequate viral inactivation steps. In case of development of antibodies against factor VIII or IX, therapy with factor VIII or IX products is insufficient. Antibody formation is more often seen in haemophilia A (25%) than in haemophilia B (2%). In most cases antibodies disappear during so-called immune tolerance induction. This therapy consists of regular infusion with factor VIII or IX. Once an inhibitor has disappeared, patients can be treated normally once more. As haemophilia is a rare and complex disease patients should be treated in specialized centres, preferably by a comprehensive care team. This is even more justified because treatment of haemophilia is costly. Over the last 20 years haemophilia treatment has improved much. This has resulted in a decrease of the number and of the duration of hospitalization, and a decrease in days lost at school or work. This has led to great improvement of the social life of haemophilia patients.

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