Fabry Disease Deeply Impacts Women’s Family Planning, Mental Health
Japanese survey highlights unique burdens and need for tailored care
A recent survey of Fabry disease patients and caregivers in Japan reveals that family planning is the most significantly affected area of life for women with the condition. Beyond reproductive concerns, participants also voiced substantial worries about passing the disease to their children and its impact on their mental well-being.
Understanding the Female Experience with Fabry Disease
The study, published in *Molecular Genetics and Metabolism Reports*, surveyed 62 individuals, predominantly women (75.8%), to illuminate the multifaceted challenges they face. Researchers noted that the findings underscore the necessity of sex-specific considerations in managing Fabry disease to enhance the quality of life for affected women.
Fabry disease, an X-linked dominant genetic disorder caused by mutations in the *GLA* gene, leads to a deficiency in the alpha-galactosidase A enzyme. This deficiency results in the buildup of fatty substances, Gb3 and lyso-Gb3, impacting vital organs like the kidneys, heart, and nervous system. While historically thought to primarily affect males, it is now understood that females can experience severe symptoms, often facing diagnostic delays and limited knowledge among healthcare providers.
Gender Disparities in Diagnosis and Symptoms
The survey data indicated significant differences in how men and women experience Fabry disease. Men were more likely to be the first in their family diagnosed (57.1%) and were typically diagnosed younger (average age 30.5) compared to women (average age 37.7). Although more men reported experiencing symptoms (92.9% vs. 86.0% for women), both sexes largely received treatment, primarily enzyme replacement therapy.
Common symptoms reported by men included reduced sweating (84.6%), hearing impairment (76.9%), and gastrointestinal issues (69.2%). Women more frequently cited heart-related symptoms (59.5%), followed by pain in the extremities (48.6%), reduced sweating, and hearing loss (32.4% each).
The Weight of Inheritance and Societal Stigma
When ranking life events affected by Fabry disease, family planning emerged as the most impactful for women, cited by 60.5% of female respondents. Puberty and menstrual cycles were also noted but to a lesser extent. A significant concern for women was the potential to pass the disease to their children, with 89.1% expressing this worry compared to 60.0% of men. Both genders attributed these concerns to societal prejudice, stigma, and inherited guilt.
“The findings are consistent with previous studies in which women with Fabry disease reported feelings of guilt for passing the disease on to their children, coupled with anxiety or depression, and exacerbated by a sense that they are stigmatized by society.”
—Researchers
The study also highlighted a gap in understanding and support. While most participants agreed Fabry disease impacted women’s mental health, only about a third felt their primary care physicians understood their challenges. This figure rose to nearly half when consulting Fabry specialists, indicating a critical need for improved physician education and patient-physician communication in Japan.
Furthermore, less than a third of respondents believed their families or colleagues understood their struggles, and only about a quarter felt they received tailored care. This points to a pressing need for individualized care and increased societal awareness to combat prejudice and improve the overall quality of life for women living with Fabry disease.
Globally, approximately 1 in 40,000 to 1 in 100,000 individuals are born with Fabry disease, with varying severity across sexes and individuals (National Organization for Rare Disorders).
