Fabry disease
Last edited 11/2022 and last reviewed 11/2022
Fabry disease is an X-linked recessive disease where the defect in of storage of sphingolipid. Females can be mildly affected.
The underlying deficiency is of alpha-galactosidase, resulting in the accumulation of alpha-galactosyl- lactosyl-ceramide in various tissues, including kidney, liver, blood vessels and nerve ganglion cells.
The incidence is estimated at about one in 40,000 males - the condition is found in all ethnicities
- due to the constellation of presenting symptoms as well as some mutations allowing limited alphagalactosidase A activity, the actual incidence of Fabry's, including atypical, sub-clinical or late-variant phenotypes is likely to be much higher, even as high as 1 in about 3,100 male births (2)
The disease is also known as Anderson-Fabry disease (after William Anderson, a German physician, and Johann Fabry, a German physician, who independently published articles in 1898 describing this condition), Morbus Fabry and angiokeratoma corporis diffusum universale.
The cardiomyopathy associated with Fabry's disease manifests mainly as LVH (3)
Reference:
- Dermatology in Practice (2003), 11 (6), 24-7.
- Morrissey RP, Philip KJ, Schwarz ER. Cardiac abnormalities in Anderson-Fabry disease and Fabry's cardiomyopathy. Cardiovasc J Afr. 2011 Jan-Feb;22(1):38-44.
- Pieroni M et al. Cardiac Involvement in Fabry Disease: JACC Review Topic of the Week. J Am Coll Cardiol. 2021 Feb 23;77(7):922-936.