International Fabry Women’s Day Date in the current year: April 5, 2025

Fabry disease, also known as Anderson-Fabry disease, can affect many parts of the body, including the skin, heart, brain, and kidneys. It is caused by a genetic mutation that affects the function of an enzyme that breaks down sphingolipids, causing them to build up in various organs.

Common symptoms of Fabry disease include gastrointestinal pain, limb or full-body pain, chronic kidney disease, hypertrophic cardiomyopathy, abnormal heart rhythms, angiokeratomas (tiny benign red or blue spots), lack of sweating (anhidrosis) or (less commonly) excessive sweating, fatigue, nausea, dizziness, tinnitus (ringing in the ears), inability to gain weight, and others.

Fabry disease affects mostly males because of its X-linked inheritance. X-linked inheritance means that a genetic trait or disorder is encoded by an allele (copy of the gene) located on the X chromosome. X-linked conditions mainly affect men because men have only one X chromosome (XY), while women have two (XX). If a man inherits a faulty gene on his single X chromosome, he does not have a second X chromosome to compensate for the defect.

Women, on the other hand, usually have a spare copy of the gene on their second X chromosome, which can often compensate the mutation, making them asymptomatic carriers rather than affected individuals, meaning they could pass the mutation on to their children without experiencing any signs or symptoms.

However, some women may have symptoms, for example, due to X-inactivation, a process in which one copy of the X chromosome is inactivated. If the healthy allele of the gene affected by a mutation is inactivated, it will not compensate for the defect in the mutated copy, resulting in the woman having the symptoms of a genetic condition in the same way as a man.

Because it is very rare for women to be affected by Fabry disease, those who do experience the effects of the disease, often as severely as men, are often underdiagnosed. Although it is scientifically possible for women to experience symptoms of X-linked genetic disorders, the misconception that they can only be carriers is so widespread, even in the medical community, that women with Fabry are often not taken seriously and don’t get access to proper diagnosis and care. International Fabry Women’s Day was created to advocate on their behalf and raise their visibility.

Fabry Women’s Day was first celebrated in the Netherlands in 2005. In 2013, the Fabry Support & Informatie Groep Nederland (FSIGN) declared the first Saturday in April as International Fabry Wome’s Day. Its main goal is to fight the misconception that women can only be carriers of Fabry disease, to ensure that the voices of women affected by Fabry disease are heard, and to help them get access to the care they deserve just as much as men.