Thyroid function in Fabry disease before and after enzyme replacement therapy

A. Faggiano, R. Severino, V. Ramundo, R. Russo, L. Vuolo, M. Del Prete, F. Marciello, G. Lombardi, B. Cianciaruso, A. Colao, A. Pisani

Research output: Contribution to journalArticlepeer-review


Aim. Patients with Fabry disease (FD), a genetic disorder caused by lysosomal α-galactosidase-A enzyme deficiency and characterized by a systemic accumulation of globotriaosylceramides, present high prevalence of subclinical hypothyroidism. The pathogenic mechanism is thought not to be related to anti-thyroid autoimmunity and may be dependent by intra-thyroid lipid accumulation. In this study, it was investigated whether thyroid function recovers in FD after long-term enzyme replacement therapy (ERT). Methods. Study population included 14 FD patients (7 females, 7 males, aged 21-62 years) and 14 sex- and age-matched normal subjects. Thyroid function was evaluated in each patient at baseline and after the beginning of ERT with rh-α- galactosidase-A (1 mg/kg/BW every 2 weeks) for three years. Results. TSH levels were higher in FD patients than in controls (P3 mU/L in three patients and normalize after ERT. Anti-Tg and/or anti-TPO titres were positive in 14% of patients and 21% of controls. After ERT, the rate of autoimmunity was unchanged. At the thyroid ultrasonography, a slight hypoechoic pattern was found in 71% of patients at baseline and decreased to 43% after ERT. Conclusion. Primary hypothyroidism in FD patients is reverted after long-term ERT. A Screening of thyroid function and periodical re-evaluation during ERT is mandatory in all FD patients.

Original languageEnglish
Pages (from-to)1-5
Number of pages5
JournalMinerva Endocrinologica
Issue number1
Publication statusPublished - Mar 2011


  • Enzyme replacement therapy
  • Fabry disease
  • Hypothyroidism

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Internal Medicine
  • Endocrinology

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