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Zespół Beana przyczyną naczyniaków i krwawień z przewodu pokarmowego

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Zespół Beana to rzadkie schorzenie, w przebiegu którego w obrębie skóry i narządów wewnętrznych występują guzy naczyniowe. Choroba może doprowadzić do wystąpienia krwawień z przewodu pokarmowego, przewlekłej anemii oraz stanów ostrych, takich jak perforacja lub niedrożność jelita.

Zespół Beana, określany również jako zespół gumiastych pęcherzyków znamionowych (ang. blue rubber bleb nevus syndrome, BRBNS), to rzadka choroba, której przyczyny nie zostały dotychczas poznane. BRBNS najczęściej występuje w formie sporadycznej, ale znane są również przypadki z autosomalnym dominującym sposobem dziedziczenia.

Zmiany chorobowe w postaci guzów naczyniowych mogą obejmować różne narządy wewnętrzne, w tym m.in. wątrobę, płuca, mózg, mięśnie szkieletowe, macicę, najczęściej rozwijają się jednak w obrębie przewodu pokarmowego. Zmiany naczyniowe w przebiegu zespołu Beana nie ulegają transformacji nowotworowej. Nie obserwuje się również ich samoistnego zanikania.

Zmiany skórne w przebiegu zespołu Beana

Zmiany w obrębie skóry są w większości przypadków obecne od urodzenia. Występują przede wszystkim w obrębie kończyn górnych i tułowia oraz na twarzy.

W literaturze opisano trzy rodzaje zmian skórnych występujących w przebiegu BRBNS:

  • zmiany naczyniowe o niewielkich rozmiarach i ciemnym zabarwieniu, z gładką lub lekko pomarszczoną powierzchnią; zmiany bledną pod naciskiem i szybko odzyskują kształt po zwolnieniu ucisku;
  • rozległe zmiany jamiste, które mogą powodować ucisk na ważne struktury;
  • nieregularne plamki lub grudki o niebieskoczarnym zabarwieniu; zmiany nie bledną pod naciskiem, zlewają się ze znamionami barwnikowymi.

Zmiany skórne mogą powodować dolegliwości bólowe. Ich przyczyną są skurcze mięśni gładkich otaczających malformacje naczyniowe. Zmiany mogą również prowadzić do nadpotliwości.

Zmiany w obrębie przewodu pokarmowego

Zmiany naczyniowe rozwijające się w obrębie przewodu pokarmowego mogą przyjmować postać grudek z ciemniejszą brodawką pośrodku lub płaskich, polipowatych zmian o zróżnicowanej wielkości. Zmiany stają się liczniejsze i większe z wiekiem pacjenta. Występują najczęściej w jelicie cienkim i okrężnicy, rzadko w żołądku. W ponad połowie przypadków zmiany rozwijają się także na błonie śluzowej jamy ustnej.

Naczyniaki w obrębie przewodu pokarmowego występujące w przebiegu BRBNS mogą być przyczyną nawracających krwawień, a w konsekwencji mogą powodować przewlekłą niedokrwistość niedobarwliwą (badania wskazują zależność między liczbą zmian a nasileniem anemii). Wśród możliwych powikłań wyróżnia się również perforację jelita oraz niedrożność.

Leczenie BRBNS

Terapia ma głównie charakter objawowy. W leczeniu krwawień z przewodu pokarmowego stosuje się elektrokoagulację endoskopową oraz śródoperacyjne zamykanie lub podwiązywanie naczyń. Z powodzeniem wykorzystywane są również krioterapia, koagulacja argonowa, sklerotyzacja polidokanolem. Wywołana krwawieniami anemia wymaga ponadto wielokrotnych transfuzji preparatów krwi oraz suplementacji żelaza.

W literaturze opisano również stosowanie z pozytywnym skutkiem sterydoterapii systemowej oraz połączonej terapii interferonem alfa i oktreotydem.

Źródło: A. Gawlikowska-Sroka, B. Glura i in., „Zespół Beana (zespół gumiastych pęcherzyków znamionowych)”, Pomeranian J Life Sci 2016;62(2):5-7.

Przeczytaj także: Terapia komórkami macierzystymi skuteczna przeciwko zakażeniom MRSA

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