How Fabry Disease Affects Women
It’s now known that women, once thought to merely carry the genetic mutation that causes this disorder, can develop symptoms, although they may not be as severe as for men.
Fabry disease (or alpha-galactosidase-A deficiency) is a rare genetic disorder that affects the nervous system, causing complications ranging from kidney failure and life-threatening heart problems to stroke and neuropathy (nerve pain) in the extremities. Historically, the disease was thought to affect men primarily, and that women merely carried and passed along the genetic mutation that causes Fabry disease.
Researchers now recognize that more women develop symptoms of Fabry disease than was once thought. “We don’t use the term “carrier” anymore when referring to women with Fabry disease,” says Madelena Martin, MD, the director of the lysosomal storage diseases clinic and metabolic newborn screening program at the University of California in Davis.
That said, women with Fabry disease likely experience the disease differently from men, in that it may not be as severe or debilitating. Even so, it’s a serious disorder, and women who have it can benefit from the same treatment as men.
The key thing to understand about Fabry disease in regards to how it affects the sexes differently is that it’s an X-linked disorder, known as X chromosome inactivation. Men have an X and a Y chromosome, but women have two X chromosomes. That second X chromosome is thought to help protect women from becoming as seriously ill with Fabry disease, because it helps break down the fatty substances — called globotriaosylceramides (Gb3) — that build up in people with Fabry disease and affect the nervous system and damage cells.
But more research is needed, according to a study published in 2022 in Molecular Genetics & Genomic Medicine, in order to fully understand how the X chromosome plays a role in the development of Fabry in women. That said, two of Dr. Martin’s Fabry disease patients are little girls, who she started treating when they were just 2 and 6 years old. Martin says women and girls with a family history of Fabry disease should be tested for the genetic variant and followed by a doctor.
Martin recommends that women with mild symptoms of Fabry disease see their doctor at least once a year. Although the accumulation of Gb3 may be slower in women than in men, it’s still occurring, she explains, and could eventually lead to complications that are more on par with men’s. For women who reach the point of moderate-to-severe symptoms, Martin recommends twice-yearly checkups at six-month intervals.
This is where the differences between men and women end in managing Fabry disease. Ultimately, the goal of treatment is to prevent complications and maintain a good quality of life. To that end, the U.S. Food and Drug Administration has approved two types of treatment:
Other treatments for Fabry disease are also in the pipeline.
What’s vital to people who have Fabry disease, whether symptoms are present or not and regardless of sex, is ongoing monitoring of the organs that can be affected by Fabry disease, including the kidneys, heart, eyes, and ears. This means putting together a team of specialists, including a nephrologist, geneticist, and cardiologist, who can provide specialized care. “I recommend surveillance for anybody who has this condition, whether they’re men, women, adults, or kids,” says Martin.
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