Fabry disease

Fabry disease
Other names	Fabry's disease, Anderson–Fabry disease, angiokeratoma corporis diffusum, alpha-galactosidase A deficiency
Alpha galactosidase - the deficient protein in Fabry disease
Pronunciation	/ˈfɑːbri/
Specialty	Medical Genetics
Complications	Heart failure, abnormal heart rhythms
Usual onset	Childhood
Causes	Genetic
Diagnostic method	Enzyme activity assay, genetic testing
Differential diagnosis	Hypertrophic cardiomyopathy
Treatment	Enzyme replacement

Fabry disease, also known as Anderson–Fabry disease, is a rare genetic disease that can affect many parts of the body, including the kidneys, heart, brain, and skin.^[1] Fabry disease is one of a group of conditions known as lysosomal storage diseases. The genetic mutation that causes Fabry disease interferes with the function of an enzyme that processes biomolecules known as sphingolipids, leading to these substances building up in the walls of blood vessels and other organs. It is inherited in an X-linked manner.

Fabry disease is sometimes diagnosed using a blood test that measures the activity of the affected enzyme called alpha-galactosidase, but genetic testing is also sometimes used, particularly in females.

The treatment for Fabry disease varies depending on the organs affected by the condition, and the underlying cause can be addressed by replacing the enzyme that is lacking.

The first descriptions of the condition were made simultaneously by dermatologist Johannes Fabry^[2] and the surgeon William Anderson^[3] in 1898.^[4]