Screening Populations

Patients with Fabry disease may experience neurological, renal, and/or cardiac symptoms.1,2 The following populations have been identified as high-risk for Fabry disease; diagnostic testing for Fabry disease should be considered in these patients:

  • Patients (above the age of 30 years) with a confirmed diagnosis of hypertrophic cardiomyopathy, or unexplained left ventricular hypertrophy of 13 mm or more.3
  • Patients presenting with end-stage renal disease undergoing dialysis4,5,6,7 or renal transplant.8,9
  • Young adults (18–55 years) who have had a stroke.12,13

Diagnosis of Fabry disease in a cardiological at-risk population

Diagnosis of Fabry disease in a cardiological at-risk population

Identifying Fabry disease in renal patients from the general population

Identifying patients with Fabry disease in the stroke population

Identifying patients with Fabry disease in the stroke population14,17,

Identifying Fabry disease in renal patients from the general population

Definitions

Acroparesthesia: Burning pain in hands and/or feet
Angiokeratoma: Small skin marks of red to blue colour between the belly button and knees
Cornea verticellata: Corneal deposits at the level of the basal epithelium forming a faint golden-brown whorl pattern
Hypertrophic cardiomyopathy: Hypertrophic cardiomyopathy is defined by the presence of increased left ventricular wall thickness that is not solely explained by abnormal loading conditions
Left ventricular hypertrophy: Enlargement and thickening of the left ventricle
Proteinuria: Excess protein in the urine
Transient ischaemic attack: The development of stroke-like symptoms that completely disappear within 24 hours; a brief episode of cerebral ischaemia that is usually characterized by temporary blurring of vision, slurring of speech, numbness, paralysis, or syncope and is often predictive of a serious stroke

Testing for Fabry disease:

screening the population for fabry disease - male symbol

Biochemical/genetic analysis in males:

  • Measurement of plasma α-Gal A activity
  • Confirmation of Fabry disease by genetic analysis of the GLA gene
screening the population for fabry disease - female symbol

Genetic/biochemical analysis in females:

  • Genetic analysis of the GLA gene
  • Genetic testing is the only way for women to be diagnosed

Gal A et al. J Inherit Metab Dis 201116

View references

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