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.
|Number of pages||5|
|Publication status||Published - Mar 2011|
- Enzyme replacement therapy
- Fabry disease
ASJC Scopus subject areas
- Endocrinology, Diabetes and Metabolism
- Internal Medicine