Fabry disease

Last edited 11/2022 and last reviewed 12/2022

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)


  1. Dermatology in Practice (2003), 11 (6), 24-7.
  2. 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.
  3. 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.