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High prevalence of subclinical hypothyroidism in patients with Anderson–Fabry disease

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Journal of Inherited Metabolic Disease

Summary

Anderson–Fabry disease is a rare lysosomal storage disorder. It results from a deficiency of the lysosomal α-galactosidase A and leads to progressive accumulation of globotriaosylceramide in the endothelium and tissue cells of various organs. Some of the typical clinical findings such as tiredness, dry skin, myalgia and arthralgia as well as vague gastrointestinal complaints are also symptoms of hypothyroidism. Therefore, we studied the thyroid function in patients with Anderson–Fabry disease. Thyroid function was studied in 11 patients (6 female, 5 male) with Anderson–Fabry disease by measuring thyroid-stimulating hormone (TSH) and free thyroxine serum levels. Nine patients had chronic kidney disease with stage 1 and two with stage 5. Subclinical hypothyroidism (normal serum free thyroxine concentrations along with elevated serum TSH levels) was found in 4 of 11 patients (36.4%). Subclinical hypothyroidism was observed in both male and female patients as well as in patients with stage 1 and stage 5 kidney disease. Subclinical hypothyroidism is a common finding in patients with Anderson–Fabry disease, showing an excess prevalence as compared to the normal population. The high frequency seems to be relevant regarding the potential consequences of a hypothyroid state.

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Authors and Affiliations

  1. Department of Medicine III, Division of Nephrology and Dialysis, Medical University of Vienna, Vienna, Austria

    A. C. Hauser, M. Lorenz & G. Sunder-Plassmann

  2. Division of Endocrinology and Diabetes, Medical University of Vienna, Vienna, Austria

    A. Gessl

  3. Department of Neurology, Medical University of Vienna, Vienna, Austria

    T. Voigtländer

  4. Institute of Medical and Chemical Laboratory Diagnostics, Medical University of Vienna, Vienna, Austria

    M. Födinger

  5. Department of Medicine III, Division of Nephrology and Dialysis, Medical University of Vienna, Waehringer Gürtel 18-20, A-1090, Vienna, Austria

    A. C. Hauser

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  1. A. C. Hauser
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  2. A. Gessl
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  3. M. Lorenz
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  4. T. Voigtländer
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  5. M. Födinger
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  6. G. Sunder-Plassmann
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Correspondence to A. C. Hauser.

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Hauser, A.C., Gessl, A., Lorenz, M. et al. High prevalence of subclinical hypothyroidism in patients with Anderson–Fabry disease. J Inherit Metab Dis 28, 715–722 (2005). https://doi.org/10.1007/s10545-005-0003-3

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  • DOI: https://doi.org/10.1007/s10545-005-0003-3

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