Abstract
Gaucher disease (GD), the most common ultra-rare metabolic disorder, results from lipid accumulation. Systemic inflammation, cellular stress, and metabolic dysfunction may influence endocrine function, including the thyroid. This study evaluated thyroid function and morphology in 60 GD patients, alongside carbohydrate and lipid metabolism. Anthropometric, biochemical, and hormonal tests were conducted, including thyroid ultrasound and shear-wave elastography (SWE). Clinical data, bone mineral density (BMD), and body composition (BOD POD) analyses were correlated. Healthy controls, matched for age, sex, and body mass index (BMI), were included. GD patients had higher thyroid stimulating hormone (TSH) and free thyroxine (FT4) levels within normal limits. Hypothyroidism occurred in 7%, elevated anti-thyroid antibodies in 8%, and nodular goiter in 23%. Patients with nodular goiter showed lower platelet counts and higher chitotriosidase and glucosylsphingosine (lysoGb-1) levels. Patients with type 3 GD had larger thyroid volumes and greater stiffness on SWE than patients with type 1 GD. GD patients also exhibited increased metabolic risk, including central obesity and elevated glucose levels. GD patients, despite normal thyroid hormone levels, exhibit subtle alterations in thyroid function indicators. Their increased risk of central obesity and glucose metabolism disorders, alongside higher TSH and FT4 levels, underscores the need for closer monitoring and further investigation.