How Nephrologists Can Help

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Nephrologists can play a critical role in the detection of Fabry disease. Patients with Fabry disease often present with a family history of chronic kidney disease. By recognizing the early signs and symptoms, nephrologists have the opportunity to identify Fabry disease earlier in the disease course, and to initiate appropriate interventions.

Fabry disease is considerably more common among dialysis patients than in the general population. Out of 514 consecutively screened male hemodialysis patients, 6 (1.2%) had confirmed Fabry disease diagnoses,1 suggesting the possible utility of routine screening for Fabry disease among this population.2

Renal biopsy results

Progressive accumulation of GL-3 in the renal capillary endothelium may lead to chronic kidney disease, and eventually to end-stage renal disease.

Glycosphingolipid-enlarged cells

 renal capillary endothelium contains accumlated particles of GL-3

Light micrograph of renal capillary endothelium with arrows indicating areas of GL-3 accumulation.

End-stage renal disease

 glumeruli at end-stage of kidney disease appear atrophic and hyalinized when viewed through light micrograph

Light micrograph reveals atrophic and hyalinized glomeruli typical of end-stage kidney disease.

Additional renal findings

In addition to a family history of chronic kidney disease, patients with Fabry disease may present at an early age with:

  • Progressive and/or unexplained chronic kidney disease
  • Proteinuria/isosthenuria
  • Tubular dysfunction (polyuria, polydipsia)
  • Symptoms suggestive of Fanconi’s syndrome
  • Elevated serum creatinine

Suggested readings on renal complications »

More on the renal manifestations Fabry disease »

Other clinical manifestations

Patients with Fabry disease may present with comorbidities such as:

  • Premature cardiac disease. Learn more
  • Corneal and lenticular abnormalities (seen through slit lamp; generally does not affect vision). Learn more
  • Premature stroke. Learn more
  • “Burning” pain in the hands and feet. Learn more
  • Heat/cold and exercise intolerance. Learn more
  • Impaired sweating. Learn more
  • Angiokeratomas (reddish-purple skin lesions that do not blanch with pressure). Learn more

Downloads

Download: Nephrologists' Disease Sheet (PDF)

Download: Quick Reference for Nephrologists (PDF)

References:

1. Nakao S, C Kodama, T Takenaka, et al. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. Kidney Int. 2003;64:801-807.

2. Grunfeld JP. How to improve the early diagnosis of Fabry's disease? Kidney Int. 2003;64:1136-1137.