Hopkin Robert J, Laney Dawn, Kazemi Sean, Walter Angela
Cincinnati Children's Hospital Medical Center Division of Human Genetics, Department of Pediatrics, University of Cincinnati College of Medicine, 3333 Burnet Avenue, Cincinnati, OH, 45229-3026, USA.
Division of Medical Genetics, Department of Human Genetics, Emory University School of Medicine, 101 Woodruff Circle, Atlanta, GA, USA.
Orphanet J Rare Dis. 2025 Aug 13;20(1):433. doi: 10.1186/s13023-025-03922-x.
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 general population. There is, therefore, a need for greater representation of females in clinical studies that are designed and powered to specifically detect endpoints in this group, and to evaluate these endpoints against those seen in females in the general population without FD. Improvements in the understanding of disease phenotypes, biomarkers, presentation, course, and outcomes in pediatric and adult females are needed.
法布里病（FD）是一种罕见的、X连锁的、进行性的糖鞘脂代谢多系统疾病，可导致多个身体系统的细胞和器官损伤。由于女性患者临床表现的异质性更大且病程变异性更强，FD在女性中的研究不如在男性中广泛。此外，尽管有相反的已发表证据，但女性仍常被称为FD携带者，且其症状被认为较轻。最近的研究和患者登记结果显示，超过三分之二的FD女性患者在不同身体系统出现体征和症状，超过三分之一有严重临床表现。症状包括各种各样的心血管、神经、肾脏、胃肠道以及精神/心理影响，这些显著损害了与健康相关的生活质量，并缩短了受影响女性的预期寿命。体征和症状（可能是非特异性的）与其他病症的重叠以及医生认识不足阻碍了准确及时的诊断。患有FD的女性通常与其受影响的男性对应者进行比较，而不是与普通人群中未受影响的女性进行比较，这可能导致对女性的管理不如在不与男性对比时那么严格。与普通人群中未受影响的女性相比，考虑FD女性患者症状的发作和严重程度在临床上更合适。因此，需要在临床研究中有更多女性代表，这些研究经过设计并有足够的能力专门检测该组中的终点，并将这些终点与普通人群中无FD的女性所见终点进行评估。需要提高对儿科和成年女性疾病表型、生物标志物、表现、病程和结局的认识。
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