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 body causes a wide range of symptoms, reducing the overall quality of life and longevity of those with the disease.
What is the impact of Fabry disease on life expectancy?
Fabry disease affects major body systems, including the nervous system, eyes, skin, digestive system, kidneys, and heart, with symptoms worsening over time. Thus, the average life expectancy of a Fabry patient may be lower than that of someone without the disease.
Data from the Fabry registry show that men with the disease live to an average of 58 years, compared with an average of 75 years for healthy men. Meanwhile, women with Fabry disease usually like to an average of 75 years, compared with 80 years on average for healthy individuals.
Does Fabry disease have the same impact on life expectancy for everyone?
The extent to which Fabry disease impacts life expectancy depends on many factors, including genetics, the severity of symptoms, the age of the patient at diagnosis, and the treatments undertaken to manage disease symptoms.
Early diagnosis, and timely administration of treatments such as enzyme replacement therapy (ERT), can significantly help in slowing disease progression and prolonging life expectancy.
What are the recommended lifestyle changes for improved life expectancy?
Proper symptom management and a few changes to your lifestyle can help in improving life expectancy. Take special care of your diet. Try shifting to a low-fat diet and eat in a timely manner. Smaller, more frequent meals are easier to digest than a big meal. Consult your doctor or dietitian for personalized diet recommendations.
Kidney and heart diseases are common in Fabry patients. Ensure that you regularly get tested for proper kidney and heart function so that any potentially life-threatening complications can be recognized at their earliest.
As Fabry disease progresses, the increasing severity of symptoms can lead to anxiety and stress. Therefore, managing your stress is key to ensuring your overall well-being.
Last updated: Oct. 21, 2019
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