Kidney biopsies can be instrumental in diagnosing Fabry disease, particularly in females for whom symptoms can vary widely, a new case report contends. The report, “A case of female Fabry disease revealed by renal biopsy,” was published in CEN Case Reports. Fabry disease is caused by mutations in…
They say you never truly know what someone else is going through until you walk a mile in their shoes. Let’s rewind to when I was growing up. Whenever I exerted myself through exercise or was sick with a fever (even a low-grade one), I had…
Fabry disease is a rare genetic disease characterized by the buildup of a type of fat called globotriaosylceramide (Gb3 or GL-3). This Gb3 buildup in the cells and tissues of the body causes a variety of symptoms that can be life-threatening. Many Fabry disease patients experience Fabry…
Certain cells in patients with Fabry disease seem to age more rapidly than in healthy people, which may explain why patients have a shorter lifespan compared to the general population, a study has found. By measuring “molecular clocks” linked to aging, called telomeres, researchers saw that cells from…
Treatment with PRX-102 (pegunigalsidase alfa) can safely and effectively improve kidney function in Fabry disease patients, according to preliminary data from a Phase 3 clinical trial. One year of treatment with PRX-102 significantly improved the clinical status of all patients with progressing disease and 66.7% of those with…
I have always been the type of person to go out of my way to make sure I don’t inconvenience others. Raised to stand on my own two feet, I prefer not to impose my feelings or needs on anyone else. But I have learned in the past year that…
Fabry disease is a rare genetic disorder characterized by the body’s inability to break down a type of fat called globotriaosylceramide (Gb3 or GL-3). This is due to a deficiency of the alpha-galactosidase A enzyme. The resulting accumulation of Gb3 in the cells and tissues of the…
Even with treatment, people with Fabry disease often experience pain to an extent that it affects their quality of life, a study based on a survey of more than 350 patients reports. Diarrhea was also a commonly reported problem, but more often in male respondents than female. “…
Fabber. Have you ever heard that term? It’s used to describe those with Fabry disease. I recently spent a weekend with my family and fellow “Fabbers.” I had many takeaways from this family camp weekend, but one of the highlights was…
When you’re diagnosed with Fabry disease, it’s common to be surprised and frightened about what this means for your quality of life and your life expectancy. Keep in mind that symptoms can largely be kept under control with proper management using available treatment options. Here are…
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