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Fabry disease

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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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)

  • enzyme replacement therapy is available and generally well-tolerated
    • is evidence that this therapy may result in a decrease in pain and an improvement in cardiac and renal function (1)
    • usual treatment for Fabry disease is migalastat or enzyme replacement therapy (ERT) with agalsidase alfa or agalsidase beta (4)
      • Pegunigalsidase alfa is another ERT
      • linical trial evidence shows that pegunigalsidase alfa works as well as agalsidase beta. There is no direct clinical trial evidence comparing pegunigalsidase alfa with agalsidase alfa or migalastat


  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.
  4. NICE (October 2023). Pegunigalsidase alfa for treating Fabry disease

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