Abstrakt
Haemophilia is undoubtedly the first literary recorded and most frequently occurring, genetically - conditioned hereditary recessive X-linked genetic haemorrhagic disease. Clinical manifestation occurs only in males.
Basically in haemophilia is significantly prolonged aPTT, while the PT is normal. Haemophilia A is caused by the deficiency of the coagulation factor VIII and is about 5 times more common than B, which is caused by the deficiency of the coagulation factor IX.
Manifestations of both are practically the same. Current therapy is based on application of the deficient coagulations factors VIII or IX concentrates and is fully within the competence of the haematological specialists.
Manifestations of haemophilia fully correlate with the percentage of relative levels of F VIII or IX. There are also discussed theories of development of haemophiliac arthropathy including Speer's hypothesis of bleeding into subchondral bone with development and later collapse of subchondral cysts.
Briefly is explained therapy of haemarthrosis including joint puncture and therapy of synovitis. Haemophiliac psedotumour and its treatment is also mentioned.
Then are discussed principles of surgery for haemophiliacs, when multiple procedures are recommended, and suitable surgical procedures are mentioned including treatment of fractures. The only really effective procedures are joint replacements, but with the high infection risk and early aseptic loosening.
But for haemophiliacs they are the last option, how to improve their quality of live. Because of high risk of complications we are strongly against so called "preventive joint replacements" and this procedure should not be indicated earlier than the last option.