Fabry disease in females: organ involvement and clinical outcomes compared with the general population

作者：Robert J. Hopkin, Dawn A. Laney, Sean Kazemi, Angela Wangari Walter · 发表于：Orphanet Journal of Rare Diseases · 年份：2025 · DOI：10.1186/s13023-025-03922-x · 被引用次数：7 · 研究领域：Lysosomal Storage Disorders Research、Parasitic Diseases Research and Treatment、Trypanosoma species research and implications

Fabry disease (FD) is a rare, X-linked, progressive multi-system disorder of glycosphingolipid metabolism that causes cellular and organ damage in multiple body systems. FD has not been studied as extensively in females as in males due to greater heterogeneity of presentation and variability of disease course in females. Furthermore, despite published evidence to the contrary, females are still often referred to as carriers of FD and their symptoms assumed to be mild. Findings from recent studies and patient registries show that over two-thirds of females with FD experience signs and symptoms in different body systems, with over a third experiencing severe clinical manifestations. Symptoms include a wide variety of cardiovascular, neurologic, kidney, gastrointestinal, and psychiatric/psychologic effects, which significantly impair health-related quality of life and shorten life expectancy in affected females. Accurate and timely diagnosis is hindered by overlap of signs and symptoms (which may be non-specific) with other conditions, as well as lack of physician awareness. Females with FD are often compared with their affected male counterparts as opposed to unaffected females in the general population, which may result in less rigorous management for females than may be appropriate were they not being contrasted with males. It is more clinically appropriate to consider onset and severity of symptoms in females with FD in comparison to their unaffected counterparts in the gene...