Hypermetabolism in Gaucher disease type I is not associated with altered thyroid hormone levels

  • M. Langeveld
  • E. Endert
  • W. M. Wiersinga
  • J. M. F. G. Aerts
  • C. E. M. Hollak
Short Report

Summary

Type I Gaucher disease (OMIM 231000) is an inherited storage disorder in which deficiency of the enzyme glucocerebrosidase (EC 32145) leads to accumulation of glucocerebroside in lysosomes of macrophages. These storage cells are present in liver, spleen and bone marrow resulting in hepatosplenomegaly, cytopenia and bone complications. Metabolic abnormalities in Gaucher patients include hypermetabolism, possibly caused by elevated levels of pro-inflammatory cytokines. Nonthyroidal illness (NTI) is a combination of changes in circulating thyroid hormone levels (decreased T3, elevated rT3, normal or mildly depressed TSH) present in different illnesses and might be an adaptation to protect the organism from harmful catabolic effects of hypermetabolism. The hypermetabolism and the elevated cytokine levels in Gaucher disease led us to hypothesize that the alterations in thyroid hormone levels as seen in NTI might also occur in Gaucher patients. We studied thyroid hormone levels before and during treatment in 22 adult type I Gaucher patients and resting energy expenditure (REE) and correlations with thyroid hormone levels in 12 patients. Baseline thyroid hormone levels were normal in the majority (17) of patients. No cases of nonthyroidal illness were detected. Baseline REE (kcal/kg per 24 h) was not correlated with circulating levels of T3, rT3 or fT4. Treatment of Gaucher disease with enzyme replacement therapy for several years resulted in a decrease in circulating fT4 levels. After several months of treatment most patients showed a decrease in REE. There was no correlation between the changes in REE and changes in fT4 and T3.

Supplementary material

10545_2007_Article_715_ESM.pdf (274 kb)
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Copyright information

© SSIEM and Springer 2007

Authors and Affiliations

  • M. Langeveld
    • 1
  • E. Endert
    • 2
  • W. M. Wiersinga
    • 1
  • J. M. F. G. Aerts
    • 3
  • C. E. M. Hollak
    • 1
  1. 1.Department of Endocrinology and Metabolism, F4-79Academic Medical CenterAmsterdamThe Netherlands
  2. 2.Department of Clinical Chemistry, Laboratory of Endocrinology and RadiochemistryAcademic Medical CenterAmsterdamThe Netherlands
  3. 3.Department of BiochemistryAcademic Medical CenterAmsterdamThe Netherlands

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