Fabry disease in females: organ involvement and clinical outcomes compared with the general population (103/150 characters).

Abstract

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.