Choroba von Willebranda to odmiana wrodzonej skazy krwotocznej, w przebiegu której dochodzi do nasilonych krwawień występujących samoistnie lub w wyniku urazu. Przyczyną krwotoków jest brak lub niedobór czynnika vWF, który prowadzi do zaburzeń krzepnięcia.
Choroba von Willebranda, zaliczana do skaz krwotocznych osoczowych, ma podłoże genetyczne. Istnieją jednak również przypadki nabytej postaci choroby (tzw. zespół von Willebranda), spowodowane m.in. chorobami nowotworowymi lub autoimmunologicznymi, zaburzeniem czynności tarczycy oraz układu sercowo-naczyniowego.
Choroba von Willebranda to najczęściej występująca wrodzona skaza krwotoczna – odnotowuje się ją u 1 na 100 osób.
Przyczyny choroby von Willebranda
Choroba von Willebranda spowodowana jest niedoborem lub brakiem białka osoczowego określanego jako czynnik von Willebranda (ang. von Willebrand Factor, vWF). Przyczyną tego zaburzenia jest mutacja genu kodującego czynnik vWF.
Czynnik vWF odpowiada za adhezję płytek w miejscu uszkodzenia naczynia krwionośnego. Ponadto glikoproteina ta łączy się w kompleksy z czynnikiem krzepnięcia VIII, dzięki czemu zatrzymuje proteolityczną degradację tego białka i zapobiega jego przyspieszonej eliminacji z obiegu.
Objawy choroby von Willebranda
Podstawowym objawem choroby jest zwiększona skłonność do krwawień.
U osób będących bezobjawowymi nosicielami mutacji genu vWF do ujawnienia choroby może dojść przy przypadkowym zranieniu lub podczas zabiegu chirurgicznego.
U osób z łagodnym przebiegiem schorzenia występują przede wszystkim krwawienia skórno-śluzówkowe, takie jak np. częste krwotoki z nosa i z dziąseł, nasilone krwotoki po zabiegach dentystycznych i chirurgicznych, długie i obfite menstruacje.
Osoby z chorobą von Willebranda mają również większą skłonność do powstawania zasinień, krwiaków podskórnych, podbiegnięć krwawych i wybroczyn. W przypadku nawet niewielkich skaleczeń występują długotrwałe krwawienia.
U pacjentów z ciężką postacią choroby mogą występować intensywne krwotoki z przewodu pokarmowego oraz wylewy do stawów i mięśni. Możliwe są również krwawienia do ośrodkowego układu nerwowego i jam ciała. Ciężki przebieg choroby może się manifestować już u noworodków (krwawienie z kikuta pępowiny lub po obrzezaniu).
Leczenie choroby von Willebranda
Ze względu na wrodzony charakter choroby całkowite wyleczenie nie jest możliwe.
Podstawową metodą leczenia objawów choroby von Willebranda jest podawanie desmopresyny, której działanie polega na zwiększaniu stężenia czynnika VIII oraz czynnika von Willebranda we krwi. Metoda ta nie jest jednak skuteczna w najcięższych postaciach choroby.
Pacjentom podaje się również koncentraty czynnika VIII z vWF oraz krioprecypitat (stężony preparat białek osocza). W leczeniu krwawień śluzówkowych stosuje się kwas traneksamowy, natomiast terapia krwawień menstruacyjnych obejmuje hormonalne środki antykoncepcyjne.
W uzasadnionych przypadkach klinicznych podaje się leki antyfibrynolityczne (np. w celu leczenia krwawień z błony śluzowej jamy ustnej) oraz miejscowe środki hemostatyczne (np. krwawienie po ekstrakcji zęba, krwawiące rany).
Pacjentom z chorobą von Willebranda zaleca się ponadto badania przesiewowe na obecność przeciwciał przeciwko czynnikowi vWF. Ze względu na możliwość krwawień do stawów pacjent powinien również pozostawać pod kontrolą ortopedy.
Źródło:
W. Balwierz, D. Pietrys i in., „Choroba von Willebranda u dzieci i młodzieży: diagnostyka i leczenie”, Pediatr Dypl. 2012;16(3):16-29.
K. Bykowska, „Klasyfi kacja i diagnostyka choroby von Willebranda”, Hematologia 2013, 4(1): 24-34.
J. Zdziarska, T. Iwaniec i in., „Nowości postępowania w chorobie von Willebranda”, Hematologia 2014; 5(3): 203–211.
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