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Tom 19, Nr 3 (2023)
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Opublikowany online: 2023-10-04
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Eksport do Mediów Społecznościowych

Choroba Fabry'ego — dlaczego warto ją poznać?

Agata Gajos1, Jarosław Sławek23
DOI: 10.5603/ppn.96067
Pol. Przegl. Neurol 2023;19(3):202-215.

Streszczenie

Choroba Fabry’ego należy do ultrarzadkich chorób metabolicznych (lizosomalnych, spichrzeniowych) z zajęciem wielu narządów (nerki, serce, oko, mózg, nerwy obwodowe). Neurolog może mieć z nią do czynienia w przypadku udaru mózgu w młodym wieku bądź okresowych, napadowych kryz bólowych (bolesnej neuropatii obwodowej). Powiązanie objawów neurologicznych z zajęciem innych narządów może być kluczem do sukcesu diagnostycznego. Podejrzenie choroby można potwierdzić w łatwym do wykonania teście suchej kropli krwi, a ostatecznie w badaniu genetycznym. Jest to niezwykle ważne, ponieważ od kilkunastu lat dostępne jest leczenie tej choroby hamujące gromadzenie się nieprawidłowych metabolitów w docelowych tkankach. W Polsce jest ono dostępne i refundowane w ramach programu lekowego B.104. W celu uniknięcia trwałych uszkodzeń konieczne jest wczesne rozpoznanie, a zatem także czujność diagnostyczna w przypadkach charakterystycznych objawów. Autorzy w artykule omawiają patogenezę, najważniejsze objawy i zasady diagnostyki oraz metody leczenia, z uwzględnieniem zasad terapii w ramach programu lekowego obowiązującego w Polsce.

Słowa kluczowe: choroba Fabry’egoneuropatiaból neuropatycznyudar mózgu

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