What Is The Life Expectancy Of Someone With Fabry Disease?

What Is The Life Expectancy Of Someone With Fabry Disease?

The progressive damage of organs and tissues associated with Fabry disease can cause a substantial decrease in life expectancy. The median of the accumulated survival is 50 years in men and 70 years in women, which represents a reduction of 20 years and 15 years, respectively, in life expectancy with respect to the data of the general population.

Fabry disease is one of more than forty lysosomal storage disorders transmitted by genetic inheritance. In the case of Fabry disease, the decrease or absence of activity of the lysosomal hydrolase alpha-galactosidase (alpha-GAL) produces a progressive accumulation, mainly in the walls of the blood vessels, of glycosphingolipids as the substrate globotriaosil ceramide (GL -3).

The generalized accumulation of GL-3 causes a progressive multi-systemic compromise affecting the functioning of organs and tissues.

The progress of the disease is reflected in a substantial reduction in life expectancy. Generally, the patient dies during the fourth or fifth decade and frequently the death is attributed to heart failure or to cardio or cerebrovascular diseases.

The early diagnosis of Fabry disease can allow a more effective symptomatic management, as well as provide a better quality of life. The symptoms are:


Pain is one of the most common symptoms of Fabry disease and is often one of the symptoms that appears earlier in life. There are two important types of pain associated with Fabry disease:

  • Continuous burning, tingling sensation, and discomfort in the palms of the hands and soles of the feet. This type of pain is also known as acroparesthesias.
  • Occasional episodes of intense burning pain known as “Fabry crisis”. It usually starts in the hands and feet and often the pain spreads to other parts of the body. These episodes can be debilitating and can last from several minutes to several days. Pain can be caused by changes in weather, hot temperatures, tension, exercise, and/or fatigue.

Sweating Problems

Many people with Fabry disease sweat less than people who do not have this disease. Patients may sweat very little (hypohidrosis), or not sweat at all (anhidrosis). This can result in heat intolerance due to overheating, frequent fevers. Cold intolerance can also occur.

Exercise Intolerance

Some people with Fabry disease cannot tolerate physical exercise, and may become tired or choked even after a mild activity. Physical exertion can also cause episodes of pain.

Red Spots On The Skin

  • Among the most visible signs of Fabry is the appearance of points or groups of points of garnet red or bluish-black called angiokeratomas.
  • Angiokeratomas are characteristic of the disease and their finding can help doctors suspect the possibility of Fabry disease.

Opacity Of The Cornea

The opacity of the cornea is particular and consists of fine lines with a radiating pattern (similar to the spokes of a bicycle wheel). This type of opacity does not affect vision and can only be detected with an instrument called an ophthalmoscope or slit lamp used for routine eye exams.

Digestive Manifestations

Many people with Fabry disease suffer from stomach problems, which can vary from mild to severe. These discomforts may include a feeling of fullness, pain after eating, diarrhea, and nausea.

Cardiac Manifestations

Heart problems are also common in Fabry disease and may progressively get worse with age. This is because the accumulation of GL-3 increases over time and can cause damage to the tissues and blood vessels that supply the heart. The heart condition may include enlarged heart, valves deterioration, irregular palpitations, heart attack and heart failure.

Kidney Manifestations

After several years of GL-3 deposition, kidney problems may occur, and kidney function may be affected. Damage to the kidneys can be so severe that they lose their function or fail completely (kidney failure).

Manifestations of the Nervous System

A significant accumulation of GL-3 can cause a thickening of the blood vessel wall of the brain and decreased circulation. As a result, people may experience a number of symptoms that include weakness, headaches, numbness, dizziness and brain embolism.

Also Read:

Pramod Kerkar, M.D., FFARCSI, DA
Pramod Kerkar, M.D., FFARCSI, DA
Written, Edited or Reviewed By: Pramod Kerkar, M.D., FFARCSI, DA Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:July 25, 2018

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