Fabry disease summary
|Synonyms:||alpha-galactosidase A deficiency
angiokeratoma corporis diffusum
ceramide trihexosidase deficiency
|Prevalence:||1 in 40,000|
|Age of onset:||Childhood through adulthood|
|ICD-10:||E74.21 Fabry (-Anderson) disease|
Fabry disease is a rare genetic disorder
Fabry disease is a progressive and multisystem genetic disorder characterized by the deficiency or absence of the lysosomal enzyme alpha-galactosidase A (α-GAL). The enzyme deficiency causes a harmful build-up of globotriaosylceramide and related glycolipids in the body’s cells, resulting in cell abnormalities and organ dysfunction that particularly affect the kidneys, heart, brain and peripheral nervous system.
Fabry disease may affect up to 1 in 40,000.
Fabry disease signs and symptoms
The symptoms and physical findings associated with Fabry disease vary according to age of onset and by gender. Males are typically more severely affected than females. Females have a more variable course and may be asymptomatic or as severely affected as males.
Diagnosing Fabry disease
A diagnosis of Fabry disease should be considered in individuals with pain in the extremities, absent or decreased sweating (anhidrosis or hypohidrosis), typical skin lesions (angiokeratoma), gastrointestinal abnormalities, corneal involvement (on slit lamp examination), renal insufficiency, proteinuria, and/or heart symptoms present in childhood, adolescence or adulthood.
Diagnosis can be accomplished by enzyme assay and/or genetic sequencing from a blood sample.
The genetics of Fabry disease
Because the mutated gene that causes the disease is located on the X chromosome, there is no father-to-son transmission. However, males with a defective gene pass it on to all of their daughters. Affected women have a 50% chance of passing the mutated gene to their children with each pregnancy.
If you identify a patient with Fabry disease, family testing should be considered.
Learn more about Fabry disease
For more information on the testing, diagnosis, and treatment of Fabry disease visit Rarediseases.org.
Source: Fabry Disease. National Organization for Rare Disorders. http://rarediseases.org/rare-diseases/fabry-disease/. Accessed July 11, 2016.