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

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.