Erdheim-Chester disease (ECD) is a rare multisystem disorder of adulthood characterized by excessive production and accumulation of histocytes. Endocrine involvement frequently occurs in ECD patients, but the prevalence of central or primary hypothyroidism is not known. This study aims to investigate the incidence of hypothalamus-pituitary-thyroid (HPT) dysfunction in patients with ECD.

This cross-sectional study consisted of a total of 61 patients with ECD diagnosed on the basis of clinical, genetic, and histopathological features. The primary outcome of the study was the prevalence of thyroid dysfunction in adults with ECD. The association of HPT dysfunction was examined for differences in sex, age, BMI, and pituitary hormonal dysfunction.

A total of 17 participants (28%) had hypothyroidism requiring levothyroxine therapy. The findings suggested that the prevalence of both central (9.8%) and primary (18%) hypothyroidism were higher than community estimates. It was also found that patients with both types of hypothyroidism had a higher body mass index and a higher prevalence of panhypopituitarism when compared with patients with euthyroidism. Among patients with hypothyroidism, patients with central hypothyroidism had a lower BMI than those with primary hypothyroidism.

The research concluded that patients with ECD were at a higher risk of central and primary hypothyroidism.