Fabry's disease--a comprehensive review on pathogenesis, diagnosis and treatment

J Pak Med Assoc. 2014 Feb;64(2):189-94.


Fabry's is a progressive, destructive and life threatening disease which reduces significantly life expectancy of the affected individual. It is a genetic disorder of X-linked inheritance caused by deficiency of lysosomal enzyme alpha-galactosidase A resulting in progressive accumulation of glycosphingolipids within different body cells. Fabry's deposits are defined histopathologically as lamellate membrane like structure called myeloid or Zebra bodies. Clinical manifestations of disease are hypohidrosis, acroparesthesias, heat intolerance, angiokeratomas, corneal opacities, cardiac arrhythmias, left ventricular hypertrophy, proteinuria, renal insufficiency and cerebrovascular accidents. Diagnosis of Fabry's need a high clinical suspicion, good physical examination, organ specific tests and is confirmed by demonstrating low enzyme assays in homozygous males and gene typing in heterozygous females. Specific therapy for Fabry's disease is enzyme replacement with recombinant human alpha-galactosidase A. If started early it has a promising role in renal and cardiac disease however beneficial role is not yet defined in CNS involvement.

Publication types

  • Review

MeSH terms

  • Diagnostic Imaging*
  • Enzyme Replacement Therapy / methods*
  • Fabry Disease* / diagnosis
  • Fabry Disease* / genetics
  • Fabry Disease* / therapy
  • Genetic Predisposition to Disease*
  • Genetic Testing / methods
  • Genotype
  • Humans
  • Recombinant Proteins / therapeutic use
  • alpha-Galactosidase / metabolism
  • alpha-Galactosidase / therapeutic use*


  • Recombinant Proteins
  • alpha-Galactosidase