Fabry disease is a genetic condition caused by mutations in the gene that contains instructions for producing an enzyme called alpha-galactosidase A.
This enzyme is necessary to break down a fatty molecule known as globotriaosylceramide (Gb3 or GL-3). If it’s not broken down, Gb3 accumulates in cells and can cause damage, possibly leading to life-threatening complications, including kidney damage, heart attacks, and stroke.
How Fabry disease affects life expectancy
On average, people with Fabry disease do not live as long as those without the disease. But there are good reasons to believe that, going forward, Fabry disease will have less of an effect on life expectancy.
Published data from the Fabry registry indicates that male Fabry disease patients live an average of about 58 years, compared to about 75 years for men in the general population in the U.S. For women with Fabry disease, the average life expectancy is around 75 years compared to 80 years for women in the U.S. general population.
Studies on life expectancy
There have been two major studies on life expectancy in Fabry disease.
A study conducted in 2009 used data from the Fabry registry and found that cardiovascular disease was the most common cause of death in Fabry disease patients, followed by cerebrovascular events like stroke.
Kidney disease was also a serious and common complication of Fabry disease, though this was less likely to cause death because it was usually treated with dialysis or kidney transplant. Kidney disease can be both a cause and a consequence of cardiovascular disease, so these two complications can be difficult to untangle.
This study also found that, on average, patients in the registry who died from Fabry disease were diagnosed and began treatment later in life, when the disease had progressed substantially.
Fabry disease has two forms. The classic form starts in childhood or adolescence and is characterized by a very low production of alpha-galactosidase A enzyme. Patients with the other late-onset form of the disease make more of the enzyme and may not show any symptoms until later in life.
Late-onset Fabry disease can be further divided. Patients with the renal variant usually start exhibiting symptoms around age 25 and exhibit mostly kidney-related symptoms, while those with the cardiac variant experience mainly heart problems and often do not exhibit symptoms until late in life — around age 60. Life expectancy and cause of death differs between these different variants.
Factors that affect life expectancy
Not all cases of Fabry disease are the same, and genetic factors can affect disease progression and life expectancy. The age of onset, age of diagnosis, and treatments received can also affect life expectancy, as can symptom management.
A better understanding of Fabry disease could lengthen the lives of patients and earlier diagnosis could have a big impact on life expectancy because it allows patients to be treated before they develop severe renal or cardiovascular disease.
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