Fabry disease can lead to problems at home, school, work, and everyday life. The disorder affects your whole body and can cause intense bouts of pain, a skin rash, and progressive loss of vision, hearing, and kidney functions. Your journey can be overwhelming and difficult to explain. A metaphor…
Health Insights
Genetic Counseling for Fabry Disease
If you or a family member has Fabry disease, you might benefit from genetic counseling. What is genetic counseling? Genetic counselors can talk to you about your risk of inheriting or passing on a genetic disease like Fabry. Your primary care physician can help you get in contact…
Vitamin D Deficiency and Fabry Disease
Fabry disease is a rare genetic disorder caused by a type of fat building up in cells, damaging the heart and kidneys. Vitamin D and Fabry disease The heart problems that Fabry disease causes can make exercise challenging for patients. Combined with an inability to sweat,…
Dietary Considerations for People with Fabry Disease
Fabry disease is a rare genetic disease characterized by problems in breaking down a type of fat molecule called globotriaosylceramide (Gb3 or GL-3). Patients have mutations in the GLA gene that provides instructions for making an important enzyme that breaks down these fats. The mutations alter the structure…
Fabry Disease and Pregnancy
Fabry disease is a rare genetic disorder caused by mutations in a gene called GLA. This gene provides cells with the instructions necessary to make the alpha-galactosidase A enzyme. Without this enzyme, fatty substances called sphingolipids cannot be broken down and build up in tissues, leading…
Travel Tips for People Affected by Fabry Disease
Fabry disease is a rare genetic disease that results from abnormal buildup of a type of fat called globotriaosylceramide (Gb3 or GL-3) inside cells and tissues. Gb3 accumulation can cause a wide range of symptoms, which can pose problems for travelers who have the disease. Here are some tips…
Warning Signs of Depression in Fabry Disease Patients
Fabry disease is a rare genetic disease in which mutations in the GLA gene lead to the accumulation of a type of fat called globotriaosylceramide (Gb3 or GL-3) in cells and tissues. Fabry disease affects multiple organs, and many patients experience Fabry crises, intense episodes…
Support Groups for Families Affected by Fabry Disease
Fabry disease is a rare genetic disorder characterized by the accumulation of a type of fat called globotriaosylceramide (Gb3 or GL-3) inside cells. Its symptoms, such as muscle weakness, kidney dysfunction, heart disease, Fabry crises, and various skin and eye problems, can be quite…
ERT vs. SRT – Which Would Be More Effective for Fabry Disease?
Fabry disease is a lysosomal storage disorder caused by mutations in the GLA gene. These mutations result in deficient amounts of an enzyme called alpha-galactosidase A being produced that, in turn, causes a type of fat called globotriaosylceramide (Gb3 or GL-3) to accumulate inside cells. An…
Fabry disease is a rare genetic disease that occurs as a result of a mutation in the GLA gene. This leads to a deficiency in the production of an enzyme called alpha-galactosidase A, due to the accumulation of a type of fat called globotriaosylceramide (Gb3 or GL-3) in…
Recent Posts
- Canada approves ERT Elfabrio for adults with Fabry disease
- I work hard to influence my health outcome with Fabry disease
- Canadian study highlights stroke danger for young adults with Fabry
- Fabry treatment ST-920 boosts kidney, heart function in trial
- Echocardiograms may spot early heart disease in Fabry, study finds
- In rare case, woman diagnosed with both Fabry and blood disorder
- Companies challenge EMA advice rejecting monthly Elfabrio dosing
- ERT may protect heart function after Fabry kidney failure
- Helping my children with Fabry find ways to combat depression
- EU agency urges against monthly dosing plan for Fabry drug Elfabrio