Fabry Disease

Fabry disease is a rare genetic disorder that can affect both men and women of all ages and races has symptoms which can include  burning pain in the hands and feet, inability to sweat, skin rashes, kidney problems, heart problems

Fabry Disease Overview, Symptoms and Diagnosis

Disease Overview

Fabry disease is a lysosomal storage disorder caused by partial or complete deficiency of the enzyme called α-galactosidase A (α-GAL).

Deficiency of α-GAL leads to progressive accumulation of waste substances (glycosphingolipids) in tissues throughout the body. This can result in symptoms such as bouts of severe pain, pain in the hands and feet, skin rash, corneal and lenticular opasities (generally not affecting vision), and, later on in life, strokes, diseases of the kidney and heart.

Major Signs and Symptoms

• Acroparethesia
• episodic pain crises 
• Little or no sweating
• Heat and cold intolerance
• Skin rash (small red or purple raised dots)
• Corneal and lenticular opacities
• Kidney disease
• Heart disease or arrhythmias
• Strokes
• Gastointestinalsymptoms (bloating after eating/diarrhoea)

Other Disease With Similar Symptoms

Although classical Fabry disease usually presents in childhood with pain, fever, hypohidrosis, fatigue, and/or exercise intolerance, the disease often goes unrecognized until adulthood, when the disease is more advanced. Delayed diagnosis may be due to under recognition of the disease. In addition, Fabry disease symptoms can be mistaken for those of the other disorders such as:Rheumatoid or juvenile arthritis

• Rheumatic fever
  
• Erythromelalgia, neurosis
  
• Raynauds syndrome
  
• Multiple sclerosis
  
• Lupus
  
• Acute appendicitis
• So called growing pains or malingering
  
• Petechiae
  
• Collagen vascular disease

Diagnosis

While a simple blood tests to measure the enzyme activity can be done to diagnose Fabry disease in males, these enzyme tests have limitations in the diagnosis of females. The relatively normal levels of enzyme activity in females with the disease. For this reason, genetic testing must be performed on females.

For more information on how to be tested for Fabry disease or to make an appointment for genetic counselling, please contact:

Division of Human Genetics
National Health Laboratory Service
+27 11 489 9223/4

or

Division of Human Genetics
University of Cape Town
+27 21 406 6304