Disclosures: Hannah-Shmouni reports no relevant financial disclosures. Please see study for all other authors’ relevant financial disclosures.
November 17, 2020
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Higher prevalence of hypothyroidism found in patients with Erdheim-Chester disease

Disclosures: Hannah-Shmouni reports no relevant financial disclosures. Please see study for all other authors’ relevant financial disclosures.
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Adults with Erdheim-Chester disease, a rare blood cancer, are more likely than those without the disease to have central or primary hypothyroidism and should be screened with a full thyroid panel, according to study findings.

“In this cross-sectional study of 61 patients with Erdheim-Chester disease, the prevalence of central and primary hypothyroidism was 9.8% and 18%, respectively, in patients with Erdheim-Chester disease, higher than the corresponding rates of 0.1% and 4.7%, respectively, in the community,” Fady Hannah-Shmouni, MD, FRCPC, Director of Graduate Medical Education and Principal Investigator of endocrine genetics and hypertension disorders for the Stratakis Laboratory’s Section on Endocrinology and Genetics at the Eunice Kennedy Shriver National Institute of Child Health and Human Development at NIH, told Healio. “The findings of this study suggest that clinicians should consider screening for hypothyroidism in patients with Erdheim-Chester disease.”

Hannah-Shmouni and colleagues conducted a cross-sectional analysis of 61 individuals with Erdheim-Chester disease enrolled in an observational study from 2011 to 2018 (75% men; mean age, 54.3 years). Researchers determined the prevalence of hypothyroidism in the cohort at baseline through thyroid function testing, including thyrotropin, free thyroxine and total thyroxine. The prevalence in the Erdheim-Chester disease group was compared with community estimates from the National Health and Nutrition Examination Survey III.

Of the Erdheim-Chester disease group, 17 participants had hypothyroidism requiring levothyroxine at baseline. Those with hypothyroidism had a higher mean BMI compared with euthyroid participants (31.4 kg/m2 vs. 26.7 kg/m2; P = .004). There was also a higher prevalence of panhypopituitarism in those with hypothyroidism compared with euthyroid participants (difference, 40 percentage points; 95% CI, 15-65; P < .001).

“When a clinician encounters a patient with Erdheim-Chester disease, evaluation of almost every endocrine organ is required because this fascinating somatic condition targets various endocrine organs, including bone, thyroid, hypothalamus, pituitary, adrenals and the cardiometabolic system,” Hannah-Shmouni said. “You have to look at it as a disease causing multiple endocrinopathies.”

When compared with the community sample, there was a higher prevalence of both central hypothyroidism (OR = 109; 95% CI, 37.4-260.6; P < .001) and primary hypothyroidism (OR = 4.4; 95% CI, 2.1-8.7; P < .001) in the Erdheim-Chester disease group. Women had a greater likelihood of hypothyroidism in Erdheim-Chester disease (OR = 19.6; 95% CI, 3-129.4; P = .002). No other significant associations were observed in subgroups, and no associations were found in central hypothyroidism vs. primary hypothyroidism.

“A patient with Erdheim-Chester disease should get prioritized annual screening for thyroid disorders, including primary and central hypothyroidism,” Hannah-Shmouni said. “If central hypothyroidism is suggested based on a full thyroid panel, and not limited to TSH alone, then screening for other pituitary deficiencies should occur, including central adrenal deficiency, diabetes insipidus, growth hormone deficiency and hypogonadism. We provide an algorithm for hypothyroidism screening, diagnosis and treatment. The message is to prioritize endocrine testing in patients with Erdheim-Chester disease, given the high prevalence of endocrinopathies in this entity, and not limited to hypothyroidism,” Hannah-Shmouni said.

For more information:

Fady Hannah-Shmouni, MD, FRCPC, can be reached at fady.hannah-shmouni@nih.gov; Twitter: @DrShmouni.