22nd April 2020

Focus on Fabry disease
this April

We’re supporting Fabry Awareness Month this April to help everyone gain a better understanding of this rare inherited genetic disorder. Fabry is a condition from a group known as lysosomal storage disorders (LSDs). These conditions interfere with the body’s ability to break down specific waste products with severe consequences. Fabry is caused by a mutation in a gene on the X chromosome which prevents the body controlling production of an essential enzyme and, if left untreated, will cause damage to vital organs such as the kidneys, heart and brain with severe, life-threatening complications. 

Fabry disease is a rare condition, generally underdiagnosed, which can affect males and females of all ethnic and cultural backgrounds. Statistics on incidence are approximate; however, it is estimated that the incidence ranges from 1 in 40,000 to 1 in 117,000 live births.1

Fabry can be a challenging condition to diagnose as its symptoms are varied and often different for each patient. The following are some of the most commonly reported early signs:

• Pain in the hands and feet, from a sharp, burning pain, to pins and needles 

• Over time, pain may be experienced in other parts of the body, which can increase depending on the weather; some are affected more by heat and others by cold

• Exercise can also increase pain

• Inability to sweat, causing overheating 

• Small, raised, dark red spots on the body 

• Changes to the cornea of the eye which do not affect vision

Treatments are available for Fabry disease. In addition to replacing the enzyme that is lacking, the condition is ideally managed by a multidisciplinary team to address the symptoms in the multiple organ systems affected. Regular monitoring and family screening is recommended.

The MPS Society (society for mucopolysaccharide diseases) is the only registered UK charity providing professional support to individuals and families affected by conditions such as Fabry disease and other related LSDs. For more information visit their website at: 

https://www.mpssociety.org.uk/

References:

1. Waldek S, Patel MR, Banikazemi M, Lemay R, Lee P. Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry. Genet Med 2009; 11(11): 790-796.

All other content based on information at: www.mpssociety.org.uk