LIFESTYLE & COMMUNITY

7 Main Symptoms Of A Rare Genetic Disorder — Fabry Disease — Which Affects Heart, Kidneys, And Brain Functions

Date August 7, 2019 13:38

Fabry disease is a rare genetic disorder which results from the build-up of a particular type of fat, called globotriaosylceramide, in the body's cells. It can affect skin, heart, kidneys, brain, and nervous system.

7 Main Symptoms Of A Rare Genetic Disorder — Fabry Disease — Which Affects Heart, Kidneys, And Brain Functions7 Main Symptoms Of A Rare Genetic Disorder — Fabry Disease — Which Affects Heart, Kidneys, And Brain FunctionsYeexin Richelle / Shutterstock.com

According to WebMD, Fabry disease can be called "storage disorder" and it usually starts from early childhood with prevalence in men than women.

If a mother is carrying the defective gene for Fabry disease, both male and female children have a 50% chance of inheriting it from their mother. If the father is carrying the Fabry gene, the female children will inherit the defective gene because the father passes along an X chromosome to them, but the male children, who get a Y chromosome, will not.

Causes and symptoms

The official website cites such symptoms as follows:

1. Pain. The signs are unusual as the pain can cause the feeling of burning mostly in the areas of palms and feet. Such pain may last from several minutes to a couple of days. Changes in the weather, overheating of the body, stress, exercise, and fatigue can trigger increased pain.

2. Sweating issues. Patients sweat less than normal or do not sweat at all. It can lead to overheating of the body and intolerance to heat. It is believed that the cause of this disorder is damage to the nerves and cells of the sweat glands.

3. Fatigue and intolerance to physical exertion.

4. Angiokeratomas. These are small, reddish-purple, painless papules on the skin. With age, the number of angiokeratomas in patients increases. Most often, they are located in the lips, fingers and toes, and anogenital area (upon reaching puberty).

5. Problems with heart, kidneys, brain, and nervous system functions.

6. Hearing loss.

7. Problems in the psycho-emotional sphere. Patients may have depression and anxiety disorders.

Possible treatment

According to MedicineNet, patients with Fabry disease can be treated with enzyme replacement therapy with agalsidase-alpha (Replagal) or agalsidase beta (Fabrazyme) to assist in normalizing heart and kidneys functions, as well as blood supply to the brain.

7 Main Symptoms Of A Rare Genetic Disorder — Fabry Disease — Which Affects Heart, Kidneys, And Brain Functions7 Main Symptoms Of A Rare Genetic Disorder — Fabry Disease — Which Affects Heart, Kidneys, And Brain FunctionsTashatuvango / Shutterstock.com

Life expectancy among males is about 58 years, whereas life expectancy among females is over 75 years. The most common cause of death in both genders is cardiovascular disease


This article is solely for informational purposes. Do not self-diagnose or self-medicate, and in all cases consult a certified healthcare professional before using any information presented in the article. The editorial board does not guarantee any results and does not bear any responsibility for any harm that may result from using the information provided in the article.