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Thyroid Function and Morphology in Gaucher Disease: Exploring the Endocrine Implications.

Małgorzata Kałużna1,2, Ewelina Szczepanek-Parulska1,2, Jerzy Moczko3

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Summary

Gaucher disease (GD) patients show subtle thyroid function changes and increased metabolic risks. Further monitoring is crucial due to potential thyroid alterations and obesity concerns.

Keywords:
Gaucher disease (GD)chitotriosidaseelastographyglucoseglucosylsphingosine (lysoGb-1)hypothyroidismmetabolismnodular goitershear-wave elastography (SWE)thyroid

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Area of Science:

  • Endocrinology
  • Metabolic Disorders
  • Genetics

Background:

  • Gaucher disease (GD) is an ultra-rare metabolic disorder caused by lipid accumulation.
  • Systemic inflammation, cellular stress, and metabolic dysfunction in GD may impact endocrine function, particularly the thyroid.
  • Existing research on thyroid function in GD patients is limited.

Purpose of the Study:

  • To evaluate thyroid function and morphology in Gaucher disease patients.
  • To correlate thyroid status with carbohydrate and lipid metabolism.
  • To investigate differences in thyroid characteristics between GD types and controls.

Main Methods:

  • Study included 60 GD patients and age/sex/BMI-matched healthy controls.
  • Evaluated anthropometric, biochemical, and hormonal parameters.
  • Utilized thyroid ultrasound and shear-wave elastography (SWE) for morphology and stiffness assessment.

Main Results:

  • GD patients exhibited higher TSH and FT4 levels within normal ranges.
  • Prevalence of hypothyroidism (7%), anti-thyroid antibodies (8%), and nodular goiter (23%) was observed.
  • Nodular goiter correlated with lower platelets and higher chitotriosidase/lysoGb-1.
  • Type 3 GD showed larger thyroid volumes and increased stiffness via SWE compared to Type 1 GD.
  • GD patients presented increased metabolic risks, including central obesity and elevated glucose.

Conclusions:

  • Gaucher disease patients display subtle thyroid function alterations despite normal hormone levels.
  • Increased prevalence of thyroid abnormalities and metabolic risks like central obesity and glucose dysregulation warrants closer monitoring.
  • Further research is needed to elucidate the complex interplay between GD, thyroid function, and metabolic health.