title: Thyroid function in Fabry disease before and after enzyme replacement therapy.
abstract: AM: Patients with Fabry disease (FD), a genetic disorder caused by lysosomal a-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-a-galactosidase-A (1 mg/kg/BW every 2 weeks) for three years.
  
  
  RESULTS
  TSH levels were higher in FD patients than in controls (P<0.05). In FD patients, TSH levels were higher before than after ERT (1.9±0.2 vs 1.2±0.2 mU/L, P<0.01) while fT3 and fT4 levels were normal at baseline and unchanged after ERT. At baseline, TSH levels were >3 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.
  
  
  CONCLUSIONS
  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.
authors: Department of Molecular and Clinical Endocrinology and Oncology, Federico II University, Naples, Italy. afaggian@unina.it
authors: A
authors: A
authors: Faggiano
authors: R
authors: R
authors: Severino
authors: V
authors: V
authors: Ramundo
authors: R
authors: R
authors: Russo
authors: L
authors: L
authors: Vuolo
authors: M
authors: M
authors: Del Prete
authors: F
authors: F
authors: Marciello
authors: G
authors: G
authors: Lombardi
authors: B
authors: B
authors: Cianciaruso
authors: A
authors: A
authors: Colao
authors: A
authors: A
authors: Pisani
mesh_terms: D000328:Adult; D000465:Algorithms; D015415:Biomarkers / Q000097:blood; D016022:Case-Control Studies; D056947:Enzyme Replacement Therapy / Q000379:methods; D000795:Fabry Disease / Q000097:blood* / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy / Q000201:enzymology; D005260:Female; D006801:Humans; D007037:Hypothyroidism / Q000097:blood* / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology; D008297:Male; D008875:Middle Aged; D013960:Thyroid Function Tests / Q000379:methods; D013972:Thyrotropin / Q000097:blood*; D013974:Thyroxine / Q000097:blood*; D013997:Time Factors; D014284:Triiodothyronine / Q000097:blood*; D000519:alpha-Galactosidase / Q000627:therapeutic use
chemical_list: D015415:Biomarkers; D014284:Triiodothyronine; D013972:Thyrotropin; D000519:alpha-Galactosidase; D013974:Thyroxine