Direct genetic testing in Spanish adults at high risk for Fabry disease uncovered 10 previously unreported mutations in the GLA gene, a new study has found. “These findings highlight the value of direct genetic analysis in high-risk populations for identifying both known and previously unreported GLA variants,” noted researchers,…
Discussion
Using a computer-assisted test on biopsy data from people with Fabry disease can automatically measure the amount of fatty buildup seen in the skin, helping to monitor the rare inherited condition, a new study shows. However, while this “automated image analysis” successfully spotted this buildup in both men and…
Discussion
A middle-aged man with Fabry disease developed severe narrowing in all three major heart arteries despite receiving standard treatment and having well-controlled traditional cardiovascular risk factors, a case study from China reported. Tests revealed rapidly worsening coronary disease, with narrowing in the arteries that supply blood to the heart, along…
Discussion
A large newborn screening (NBS) program in Japan identified 77 potential cases of Fabry disease from 2006 to 2022, according to a study. The number includes infants with genetic mutations known to cause Fabry disease, as well as infants with mutations that might be linked to the condition (variants…
Discussion
When I learned of our family’s first Fabry disease diagnosis on an August afternoon in 2019, I recall a sudden surge of energy and purpose as I walked from the doctor’s office to my car. I was on a mission. Distractions melted away, and I got to work connecting…
Discussion
Measurements of subtle eye changes in people with Fabry disease may offer a noninvasive way to support the early diagnosis and long-term monitoring of eye involvement in the rare genetic disorder, a study showed. Researchers found that pupils in people with Fabry recovered more slowly after exposure to light,…
Discussion
Standard newborn screening tests for Fabry disease regularly miss female infants, leading to delays in their diagnosis and treatment compared with males, a new study reveals. Because current screening relies on measuring enzyme activity, the test is generally less reliable for girls, who…
Becoming educated and informed about Fabry disease is a good first step. Here you’ll find general information about the disease, including diagnosis, symptoms, and causes.
It helps to know others have been where you are now. Here’s a collection of our columnists’ words of wisdom to help you along on your Fabry disease journey.
There is no cure for Fabry disease yet, but there are treatments that can help manage the disease. Learn more about the approved and experimental therapies here.
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