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Related Experiment Videos

Endocrine dysfunction in patients with Fabry disease.

A Faggiano1, A Pisani, F Milone

  • 1Department of Molecular, Federico II University of Naples, Via Sergio Pansini 5, 80131 Naples, Italy. afaggian@unina.it

The Journal of Clinical Endocrinology and Metabolism
|August 24, 2006
PubMed
Summary

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Fabry disease (FD) patients exhibit significant endocrine dysfunctions, including thyroid and adrenal issues, even with enzyme replacement therapy (ERT). Early detection and management of these latent conditions are crucial to prevent life-threatening complications.

Area of Science:

  • Endocrinology
  • Genetics
  • Rare Diseases

Background:

  • Fabry disease (FD) is a genetic disorder resulting from alpha-galactosidase-A deficiency, leading to globotriaosylceramide accumulation.
  • Endocrine glands are susceptible to this accumulation due to their vascularity and low cell turnover.
  • The endocrine system in FD has not been extensively studied.

Purpose of the Study:

  • To investigate the functional and morphological aspects of endocrine glands in individuals with Fabry disease.
  • To identify potential endocrine dysfunctions in FD patients.

Main Methods:

  • An observational, analytical, open, prospective study was conducted.
  • Evaluated thyroid, gonadal, adrenal, and GH/IGF-I axes in 18 FD patients and 18 controls.

Related Experiment Videos

  • Ten FD patients received enzyme replacement therapy (ERT) with agalsidase beta.

    • Main Results:

    • FD patients showed higher TSH levels and a higher incidence of subclinical hypothyroidism.
    • All male FD patients had impaired sperm parameters, and 89% of females reported menstrual abnormalities or pregnancy complications.
    • FD patients had elevated ACTH and reduced cortisol levels, with some ERT patients showing suboptimal adrenal response.

    Conclusions:

    • Fabry disease is associated with diverse latent endocrine dysfunctions, some potentially life-threatening.
    • Endocrine issues persist even with ERT and impact quality of life.
    • Routine endocrine evaluation and timely hormonal management are recommended for all FD patients to prevent severe outcomes.