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Fabry disease diagnosis algorithm

Starting from a diagnostic suspicion, it is possible to perform analyses that can confirm or reject the possible diagnosis of Fabry disease. Everything starts with dried blood spots on filter paper, then the path changes in the case of male or female subjects. In male subjects, it is possible to perform a fairly rapid and exhaustive screening test of the dosage of alpha-galactosidase A enzyme activity. If the result is positive (ie, low enzymatic activity), or in case of doubt, it may be decided to perform sequencing of the 7 exons of the GLA gene to identify possible mutations causing the disease. In female subjects, where enzymatic activity may not be a diagnostic index, sequencing must be performed directly.

Abbreviations: α-gal A, alpha-galactosidase A; DBS, dried blood spots; FD, Fabry disease. (Source: Amodio F, Caiazza M, Monda E, et al. An overview of molecular mechanisms in Fabry disease. Biomolecules 2022;12[10]:1460. Creative Commons Attribution [CC BY] license,

Associated Disorders

  • Atypical heterozygotes
  • Autonomic neuropathy
  • Cerebral infarction
  • Glycosphingolipidosis
  • Hypertrophic cardiomyopathy
  • Myocardial infarction
  • Renal failure