# Exploring the burdens of women living with Fabry disease in Japan: A patient survey of 62 respondents

## TL;DR

This study explores the emotional and social challenges faced by women with Fabry disease in Japan, particularly around family planning and mental health.

## Contribution

The study provides new insights into the specific burdens of Japanese women with Fabry disease, focusing on inheritance concerns and lack of community and medical support.

## Key findings

- Family planning is the life event most affected by Fabry disease for women.
- Inheritance concerns and stigma are major worries for women with Fabry disease.
- Over 75% of respondents believe the disease negatively affects mental health.

## Abstract

The challenges encountered by women living with Fabry disease in Japan are not well understood. This study aimed to elucidate the experiences of women with Fabry disease and their support networks from both female and male perspectives. A 22-question survey was conducted among patients with Fabry disease and their caregivers (≥18 years) in Japan between August and October 2023. Sixty-two recipients completed the questionnaire (11.5 % response rate); 47 (75.8 %) were female and the mean age was 52.4 years. Overall, 51 respondents (82.3 %) identified as patients, 2 (3.2 %) as caregivers, 6 (9.7 %) as both a patient and caregiver, and 3 (4.8 %) as “other”. In total, 43 respondents (69.4 %) were women with Fabry disease. Among life events surveyed, Fabry disease had the greatest impact for women during family planning. The most commonly reported concerns for women were inheritance of Fabry disease and impact on children, the main reasons for which were prejudice, stigma, and sense of guilt associated with inheritance. In all, 28.1 % of respondents felt family and colleagues understood women's challenges with Fabry disease, while 37.9 % believed their primary care physicians and 48.3 % felt their specialist physicians understood these challenges; 26.3 % thought women received tailored care, and 75.9 % felt the condition affects mental health. Women with Fabry disease in Japan face substantial emotional burdens and lack support from their community and physicians. Healthcare professionals can play a pivotal role by offering genetic counseling and developing support programs to alleviate mental burdens and provide education about the disease and family planning implications.

•The challenges encountered by adult women living with Fabry disease and their caregivers were examined using a 22-question survey.•Participants reported that the key event in a woman’s life that is most affected by Fabry disease is family planning.•The concerns most frequently held by women living with Fabry disease were reported to be inheritance and impact on children.•Over three-quarters of respondents agreed that the disease affects women’s mental health.

The challenges encountered by adult women living with Fabry disease and their caregivers were examined using a 22-question survey.

Participants reported that the key event in a woman’s life that is most affected by Fabry disease is family planning.

The concerns most frequently held by women living with Fabry disease were reported to be inheritance and impact on children.

Over three-quarters of respondents agreed that the disease affects women’s mental health.