Impact of Fabry Disease on Family Planning Among Japanese Women

Women with Fabry disease in Japan face significant challenges that impact their family planning decisions, as highlighted in a recent survey. The study, published in *Molecular Genetics and Metabolism Reports* on July 17, 2025, titled "Exploring the burdens of women living with Fabry disease in Japan: A patient survey of 62 respondents," underscores the multifaceted difficulties these women encounter, including a lack of awareness and understanding of the disease among healthcare providers, which often leads to delayed diagnosis.

Fabry disease is a genetic condition caused by mutations in the GLA gene, resulting in a deficiency of the alpha-galactosidase A enzyme. This deficiency leads to the accumulation of fatty substances, specifically globotriaosylceramide (Gb3) and lyso-Gb3, in various organs, including the kidneys, heart, and nervous system. Traditionally regarded as a male-dominated condition due to its X-linked dominant inheritance pattern, it is now understood that women with a single mutated GLA gene can also experience severe symptoms, a fact that complicates their health management and family planning.

The survey’s findings reveal that nearly half of the women (48.4%) reported that Fabry disease significantly impacted their family planning. Additionally, issues related to the onset of puberty (17.7%) and the menstrual cycle (12.9%) were also noted as areas of concern. Importantly, 60.5% of participants indicated that family planning was the most pressing issue associated with their condition. The emotional toll associated with the hereditary nature of Fabry disease was particularly concerning, with 89.1% of women expressing anxiety about passing the disease on to their children. This sentiment was compounded by societal stigma and feelings of guilt, as discussed by Dr. Steve Bryson, the study's lead researcher, who holds a PhD in biochemistry from the University of Toronto.

The survey, which included responses primarily from women (75.8%), also highlighted that mental health issues are prevalent among this demographic. Over half of the respondents (58.6%) agreed that Fabry disease adversely affects their mental well-being. However, only 37.9% felt that their primary care physicians understood the unique challenges faced by women, although this perception improved to 48.3% for specialists in Fabry disease.

The research emphasizes the need for enhanced education and awareness among healthcare professionals regarding Fabry disease, particularly in recognizing symptoms and the implications for women. "There is a pressing need to provide tailored individual care for women living with Fabry disease and to reduce societal prejudice," the researchers concluded. By improving communication and understanding, healthcare providers can help mitigate some of the psychosocial burdens associated with the disease, ultimately enhancing the quality of life for affected women.

As the understanding of Fabry disease evolves, so too must the approaches to its management, particularly for women who navigate both the medical and emotional complexities of this condition. Efforts must continue to ensure that women receive the support and information necessary to make informed decisions regarding their health and family planning, thereby addressing the critical gaps identified in this crucial area of women's health.