Tom 10, Nr 4 (2017)
Artykuł przeglądowy
Opublikowany online: 2018-01-17
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Choroba von Willebranda typu płytkowego (PT-VWD) — epidemiologia, podłoże molekularne, diagnostyka
Journal of Transfusion Medicine 2017;10(4):138-148.
Streszczenie
Choroba von Willebranda typu płytkowego (PT-VWD) dziedziczy się autosomalnie dominująco.
Jest ona spowodowana mutacjami genu glikoproteiny GP Iba, receptora dla czynnika von
Willebranda na płytkach krwi. Paradoksalnie mutacje genu GPIba w PT-VWD zwiększają,
a nie zmniejszają powinowactwo GPIba do czynnika von Willebranda (VWF). Podczas gdy
choroba von Willebranda (VWD) jest najczęściej występującą skazą krwotoczną i dotyczy około
1% ogólnej populacji, to płytkowa choroba von Willebranda (PT-VWD, pseudo VWD) występuje
sporadycznie. Opisano dotąd 55 osób z tym defektem. U chorych z PT-VWD skaza krwotoczna
jest zróżnicowana od łagodnej do umiarkowanej, niezależnie od płci i wieku pacjenta.
Zagrażające życiu krwawienia mogą się pojawić w przebiegu infekcji, ciąży, po zabiegach
chirurgicznych. Fenotypowo PT-VWD przypomina chorobę VWD typu 2B, ale etiologia tych
dwóch chorób jest różna. W każdym przypadku rozpoznania VWD 2B konieczne jest wykonanie
dodatkowych badań różnicujących VWD 2B i PT-VWD, aby potwierdzić rozpoznanie i wybrać
właściwy sposób leczenia.
Słowa kluczowe: płytkowa choroba von Willebrandaczynnik von Willebrandaglikoproteina Ibαobraz fenotypowyocena laboratoryjna
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