Fabry Disease Progression

A family disease that can worsen over time

Over many years, as GL-3 slowly builds up in the walls of blood vessels and other tissues, it is associated with progressive or increasing damage. Major organ systems involving the heart, kidney, and brain may eventually stop functioning properly, causing life-threatening problems. The most serious problems in Fabry disease usually occur in the fourth or fifth decade of life. However, signs and symptoms usually appear much earlier. If the disease is recognized early, doctors can begin exploring disease management options.

Symptoms throughout different stages of life

Fabry disease causes a variety of symptoms, many of which may be mistaken for those of other diseases. Therefore, diagnosis can be very challenging and may be delayed for years or even decades. Yet early diagnosis is important.

The following section describes common signs and symptoms of Fabry disease at different stages of life. If you (or a family member) are experiencing these symptoms and a cause has not been determined, be sure to discuss them with your doctor.

Fabry disease in children

Although GL-3 may begin accumulating even before birth, signs and symptoms of accumulation may not be evident until early to late childhood. Even then, these symptoms may be attributed to other diseases. Being aware of the types of symptoms children may experience can help lead to early recognition of the disease.

Listed below are some common signs and symptoms of Fabry disease in children.

Fabry disease in children 
  • Episodic or chronic burning, tingling pain
  • Impaired sweating
  • Corneal whorling
  • Recurrent fever
  • Heat and/or cold intolerance
  • Psychological/social issues

Fabry disease in adolescents

Teenagers may experience additional signs and symptoms. Gastrointestinal problems, skin rash, and fatigue tend to become more common in adolescence.

Fabry disease in adolescents 
  • Gastrointestinal problems
  • Skin rash (angiokeratoma)
  • Fatigue
  • Episodic or chronic burning, tingling pain
  • Impaired sweating
  • Corneal whorling
  • Recurrent fever
  • Heat and/or cold intolerance
  • Psychological/social issues

Fabry disease in adults

By the time a person with Fabry disease has reached adulthood, significant build-up of GL-3 in the cells may have occurred, and new signs and symptoms related to organ damage may appear.

Highlighted below are many of the signs and symptoms that adults with Fabry disease may experience.

Fabry disease in adults 
  • Impaired kidney function
  • Brain or nervous system complications
  • Heart problems
  • Hearing loss or ringing in the ears
  • Gastrointestinal problems
  • Skin rash (angiokeratoma)
  • Fatigue
  • Episodic or chronic burning, tingling pain
  • Impaired sweating
  • Corneal whorling
  • Recurrent fever
  • Heat and/or cold intolerance
  • Psychological/social issues

The prognosis for Fabry disease

Fabry disease is a progressive (meaning it tends to get worse over time), potentially life-threatening illness. Individuals with Fabry disease may develop kidney disease,1 heart problems,2 or strokes3 by the time they reach their 40s or 50s. Prognosis varies from patient to patient.

References:

1. Desnick RJ, YA Ioannou, CM Eng. Alpha-galactosidase A deficiency: Fabry disease. In: The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw Hill, 2001: 3733-3774. Page 3740, Column 2, Paragraph 2

2. Desnick RJ, YA Ioannou, CM Eng. Alpha-galactosidase A deficiency: Fabry disease. In: The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw Hill, 2001: 3733-3774. Page 3735, Column 2, Paragraph 1, Sentence 14-17

3. Desnick RJ, YA Ioannou, CM Eng. Alpha-galactosidase A deficiency: Fabry disease. In: The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw Hill, 2001: 3733-3774. Page 3735, Column 2, Paragraph 1, Sentence 16, 17