What is Fabry disease?
Fabry disease is closely related to mucopolysaccharidoses and is one of the lysosomal storage diseases. It was first described in 1898 by William Anderson and Johannes Fabry and is also referred to by some as Anderson–Fabry disease.
In the course of normal life there is a continuous recycling process in the body which consists of building new materials and breaking down old ones ready for disposal. This activity takes place in a special part of the body’s cells called the lysosome. This process requires a series of biochemical tools called enzymes. The enzyme alpha-galactosidase A (alpha-GAL) is essential in breaking down the fatty acid globotriaosylceramide (GL3).
People with Fabry cannot make enough of alpha-GAL, without enough levels of the enzyme the normal functioning of vital organs is affected. When GL3 is not completely broken down it builds up within the cells of the body causing progressive damage. Organs such as kidney, heart and brain eventually start to deteriorate, and severe or life-threatening complications can arise. Babies may show little sign of the disease but as more and more cells become damaged by an accumulation of these waste products, symptoms start to appear.
A long road to diagnosis
In a study based upon the Fabry Registry, due to the nonspecific and heterogeneous nature of early symptoms in Fabry disease, diagnostic delays and misdiagnosis were common.
Fabry disease is often misdiagnosed and confused with rheumatoid or juvenile arthritis, rheumatic fever, erythromelalgia, Raynaud’s syndrome, neurosis, lupus, acute appendicitis, or multiple sclerosis. Pain, particularly in children, can be dismissed as malingering.
Connecting seemingly unrelated symptoms to Fabry disease can help avoid diagnostic delays and help patients receive disease management sooner.
Importance of Screening for Fabry Disease in High-Risk Populations.
Although Fabry is considered a rare disease, the prevalence of Fabry disease in patients with certain disorders, such as unexplained chronic kidney disease and hypertrophic cardiomyopathy, may be higher than in the general population.[3,4] Consequently, it is important to screen patients with these conditions for Fabry disease.