Abstract Summary
Congenital clotting factor deficiencies are rare disorders causing hematoma's, joint- and muscle bleedings and re-bleeding after surgery. Hemophilia is the commonest (X linked) disorder, caused by a deficiency of factor VIII (hemophilia A) or of factor IX (hemophilia B). In 30-50% the family history is absent or has not been adequately elucidated in which case the diagnosis of haemophilia in the neonate will be unsuspected. In these situations, delay in diagnosis may cause iatrogenic bleedings. Yearly, 10-15 boys with a severe form of haemophilia are born in the Netherlands. Treatment consists of administration of the missing clotting factor which can be given in case of a bleeding, trauma or at a prophylactic basis. Although the care for children with hemophilia in the Netherlands is concentrated in thirteen comprehensive hemophilia centers, every paediatrician should be aware of initial presentation of these disorders as 50% has no (known) family history. During the 20st century, hemophilia is changed from a disorder with a very low quality of life and a short life expectancy to a treatable disorder and are we now standing on the threshold of gene therapy.
Samenvatting
Aangeboren stollingsfactordeficiënties zijn zeldzame aandoeningen die gepaard gaan met hematomen, gewrichts- en spierbloedingen en nabloedingen na ingrepen. Hemofilie is een X-gebonden aandoening en wordt veroorzaakt door een tekort aan FVIII (hemofilie A) of FIX (hemofilie B). In 30-50% van de gevallen zijn er geen aangedane familieleden bekend. Dit kan een vertraging veroorzaken in het stellen van de diagnose waardoor bloedingen ontstaan die voorkomen hadden kunnen worden. In Nederland worden jaarlijks 10-15 kinderen met een ernstige vorm van hemofilie geboren. Behandeling bestaat uit het toedienen van de ontbrekende stollingsfactor in geval van een bloeding, trauma of preventief. Alhoewel de chronische zorg voor kinderen met aangeboren stollingsfactordeficiënties sinds 2000 in Nederland gecoördineerd wordt door dertien hemofiliebehandelcentra, zullen kinderartsen altijd alert moeten blijven op het klinische beeld van een (aangeboren) hemostasestoornis, aangezien bijna 50% een negatieve familieanamnese heeft. In de 20e eeuw is hemofilie veranderd van een aandoening met een slechte kwaliteit van leven en korte levensverwachting tot een behandelbare aandoening en staan we op de drempel van gentherapie.
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Mw. dr. M. Peters, kinderarts-hematoloog, afdeling Kinderhematologie, Emma Kinderziekenhuis amc, Amsterdam. Mw. dr. H.M. van den Berg, Van Creveld Kliniek, Wilhelmina Kinderziekenhuis, umcu, Utrecht. Mw. A. de Goede-Bolder, kinderarts, Erasmus MC/Sophia Kinderziekenhuis, Rotterdam.
Correspondentieadres: Dr. M. Peters, afdeling Kinderhematologie, Emma Kinderziekenhuis amc, Postbus 22660, 1100 DD Amsterdam, tel: 020-5662727
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Peters, M., van den Berg, H.M. & de Goede-Bolder, A. Hemofilie: van Talmoed tot gentherapie. KIND 75, 203–209 (2007). https://doi.org/10.1007/BF03061694
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DOI: https://doi.org/10.1007/BF03061694