Skip to main content
Journal cover image

Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease.

Publication ,  Journal Article
Auray-Blais, C; Millington, DS; Young, SP; Clarke, JTR; Schiffmann, R
Published in: J Inherit Metab Dis
April 2009

Fabry disease is a complex, multisystemic and clinically heterogeneous disease with prominent urinary excretion of globotriaosylceramide (Gb(3)), the principal substrate of the deficient enzyme, alpha-galactosidase A. Some measure of specific treatment is possible with enzyme replacement therapy, which can be applied safely and effectively to Fabry patients. Incidence estimations of Fabry disease vary widely from 1:55 000 to 1:3000 male births. The true incidence is likely to be higher than originally thought, owing to the existence of milder variants of the disease. The main complications of Fabry disease are a 100-fold increased risk of ischaemic stroke, cardiac disease, a wide variety of arrhythmias, valvular dysfunction and cardiac vascular disease, as well as progressive renal failure usually associated with significant proteinuria. These clinical manifestations are non-specific and are often mistaken for symptoms of other disorders, thus complicating the confirmation of diagnosis. Other clinical features of the disease are often absent (angiokeratoma), subtle (corneal opacities and hypohidrosis), or unaccompanied by specific physical findings (acroparaesthesias) indicating the true nature of the underlying disease. We propose the hypothesis that alpha-galactosidase A deficiency is a modifiable cardiovascular risk factor in the general population. This hypothesis may be tested by a non-invasive high-risk screening protocol for Fabry patients with ischaemic strokes and a variety of cardiac, and renal complications. These patients would benefit from diagnosis, appropriate treatment, follow-up and surveillance. Early detection of Fabry patients would also benefit affected relatives, many of whom do not have a clear diagnosis of their clinical condition.

Duke Scholars

Published In

J Inherit Metab Dis

DOI

EISSN

1573-2665

Publication Date

April 2009

Volume

32

Issue

2

Start / End Page

303 / 308

Location

United States

Related Subject Headings

  • alpha-Galactosidase
  • Vascular Diseases
  • Trihexosylceramides
  • Stroke
  • Specimen Handling
  • Risk Factors
  • Mass Spectrometry
  • Kidney Diseases
  • Humans
  • Genetics & Heredity
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Auray-Blais, C., Millington, D. S., Young, S. P., Clarke, J. T. R., & Schiffmann, R. (2009). Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease. J Inherit Metab Dis, 32(2), 303–308. https://doi.org/10.1007/s10545-009-1055-6
Auray-Blais, C., D. S. Millington, S. P. Young, J. T. R. Clarke, and R. Schiffmann. “Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease.J Inherit Metab Dis 32, no. 2 (April 2009): 303–8. https://doi.org/10.1007/s10545-009-1055-6.
Auray-Blais C, Millington DS, Young SP, Clarke JTR, Schiffmann R. Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease. J Inherit Metab Dis. 2009 Apr;32(2):303–8.
Auray-Blais, C., et al. “Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease.J Inherit Metab Dis, vol. 32, no. 2, Apr. 2009, pp. 303–08. Pubmed, doi:10.1007/s10545-009-1055-6.
Auray-Blais C, Millington DS, Young SP, Clarke JTR, Schiffmann R. Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease. J Inherit Metab Dis. 2009 Apr;32(2):303–308.
Journal cover image

Published In

J Inherit Metab Dis

DOI

EISSN

1573-2665

Publication Date

April 2009

Volume

32

Issue

2

Start / End Page

303 / 308

Location

United States

Related Subject Headings

  • alpha-Galactosidase
  • Vascular Diseases
  • Trihexosylceramides
  • Stroke
  • Specimen Handling
  • Risk Factors
  • Mass Spectrometry
  • Kidney Diseases
  • Humans
  • Genetics & Heredity