Choroba Fabry'ego - Medycyna Praktyczna dla lekarzy

medycyna praktyczna dla lekarzy

Fenotypy choroby Fabry’ego u kobiet

Choroba Fabry’ego u kobiet – zajęcie narządów i następstwa kliniczne w porównaniu z populacją ogólną

01.07.2026
Fabry disease in females: organ involvement and clinical outcomes compared with the general population,
Robert J. Hopkin1*, Dawn Laney2, Sean Kazemi3, Angela Walter3
Orphanet Journal of Rare Diseases (2025) 20:433. https://doi.org/10.1186/s13023-025-03922-x.

Afiliacje

1 Cincinnati Children’s Hospital Medical Center Division of Human Genetics, Department of Pediatrics, University of Cincinnati College of Medicine, 3333 Burnet Avenue, Cincinnati, OH 45 229–3026, USA;
2 Division of Medical Genetics, Department of Human Genetics, Emory University School of Medicine, 101 Woodruff Circle, Atlanta, GA, USA;
3 US Medical Affairs, Rare Diseases, Sanofi, Cambridge, MA, USA

Tłumaczyła: Magdalena Rot-Kołodziejczyk
Adres do korespondencji: Robert J. Hopkin rob.hopkin@cchmc.org

Korekta opublikowana w 2025 roku.
Otrzymano: 13 stycznia 2025 roku. Zaakceptowano: 11 lipca 2025 roku. Data publikacji: 13 sierpnia 2025 roku.
Uwagi wydawcy: Springer Nature zachowuje neutralność w kwestii roszczeń jurysdykcyjnych na opublikowanych mapach i powiązań instytucjonalnych.
Translated from Fabry disease in females: organ involvement and clinical outcomes compared with the general population, Robert J. Hopkin, Dawn Laney, Sean Kazemi, Angela Walter, Orphanet Journal of Rare Diseases (2025) 20:433. https://doi.org/10.1186/s13023-025-03922-x. © The Author(s) 2025. corrected publication 2025. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).

Od redakcji: artykuł podzielono na części. Artykuł w druku ukazał się w numerze 1/2026 czasopisma „Medycyna Praktyczna – Neurologia”.

W chorobie Fabry’ego u kobiet wyróżnia się fenotyp klasyczny i nieklasyczny4,6. W badaniu wieloośrodkowym obejmującym 295 pacjentek u 147 rozpoznano fenotyp klasyczny, definiowany jako występowanie wariantu patogennego genu GLA i co najmniej jednego objawu swoistego dla choroby Fabry’ego.

Za objawy swoiste uznano: neuropatyczny ból charakterystyczny dla choroby Fabry’ego, zmiany skóry i błon śluzowych o typie angiokeratoma i/lub zmiany rogówki o charakterze cornea verticillate9. U pozostałych 148 kobiet rozpoznano fenotyp nieklasyczny, definiowany jako występowanie wariantu patogennego genu GLA bez charakterystycznych objawów swoistych dla choroby Fabry’ego. Obraz kliniczny tych fenotypów różni się w zależności od wielu czynników, m.in. klasyfikacji genotypu: u kobiet z klasyczną postacią choroby objawy zwykle pojawiają się w dzieciństwie lub okresie dojrzewania, podczas gdy u kobiet z postacią nieklasyczną – między 4. a 7. dekadą życia6. Ponadto dla klasycznej postaci choroby Fabry’ego typowe jest wczesne zajęcie wielu narządów, podczas gdy w postaci nieklasycznej liczba objawów może być mniejsza, a chorobę rozpoznaje się najczęściej z powodu dominującego zajęcia mięśnia sercowego lub nerek6. Niemniej jednak, u wielu kobiet z fenotypem nieklasycznym po szczegółowej ocenie klinicznej stwierdza się cechy zajęcia wielonarządowego30.

Objawy początkowe różnią się u kobiet z klasyczną i nieklasyczną postacią choroby. Fenotyp klasyczny charakteryzuje się wczesnym występowaniem bólu neuropatycznego, zmian skóry i błon śluzowych o typie angiokeratoma, zmętnienia rogówki lub soczewki, upośledzenia pocenia się oraz objawów ze strony przewodu pokarmowego. U kobiet z postacią nieklasyczną natomiast objawy mogą pojawić się znacznie później, a u niektórych dominują zaburzenia sercowo‑naczyniowe6,31, chociaż często stwierdza się zajęcie innych narządów niż serce4,32. Częstość zdarzeń klinicznych u kobiet z fenotypem klasycznym jest zasadniczo większa niż u kobiet z postacią nieklasyczną4. Potencjalny wzajemny wpływ uszkodzenia mięśnia sercowego i nerek w fenotypie nieklasycznym choroby Fabry’ego pozostaje nieznany z powodu braku danych długoterminowych.

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Zobacz także
Wybrane treści dla pacjenta
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