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Endocrine impairment common in Erdheim-Chester disease
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In patients with Erdheim-Chester disease, endocrine impairment is common and patients should be evaluated for these symptoms at diagnosis and during follow-up.
Researchers evaluated 64 patients with Erdheim-Chester disease (mean age 57.6 years; 50 men) treated at Pitié-Salpêtrière Hospital in Paris between October 2007 and May 2013. Follow-up measurements were available for 36 participants.
Participants underwent blood tests, radiologic examinations and clinical evaluations for testing pituitary, gonadal and adrenal function. The researchers also retrieved data on age at symptom onset and Erdheim-Chester diagnosis, known complications, specific treatments and hormone replacement therapies.
Researchers found that among 41 participants who underwent pituitary MRI, 12.2% had infiltration of the pituitary stalk, and 14.6% had infiltration of the pituitary region. Of the 10 participants in whom an infiltrative lesion of the pituitary region or stalk was seen on MRI, 90% demonstrated pituitary impairment. In 60% of the cases, there was an absence of the physiological T1 hypersignal of the posterior pituitary, and 33.3% of the participants were found to have diabetes insipidus. No correlation was found between diabetes insipidus and the loss of the posterior pituitary bright spot (P = .06).
Forty-five participants had at least one dysfunction axis. In the 23 participants for whom anterior pituitary evaluations were complete, 91.3% had at least one dysfunctional axis. Thirty-five participants in the overall study population had two or more anterior pituitary dysfunctional axes, and 69.6% with complete evaluations had two or more dysfunctional axes.
Panhypopituitarism was diagnosed in two participants. In 53.1%, testicular insufficiency was diagnosed, with primarily bilateral testicular infiltration found sonographically in 29% of men. In 39.1% of participants, adrenal infiltration was seen, and one case of adrenal insufficiency was reported. All patients had some extent of endocrine hormonal or morphologic involvement. The majority of endocrine deficiencies were permanent, and no regression was seen in diabetes insipidus, corticotropic deficiency or growth hormone deficiency. During follow-up, researchers observed the onset of deficits not seen at the initial assessment.
“We have shown that endocrine impairment is extremely frequent, and we found no patient without endocrine hormonal or morphological involvements,” the researchers wrote. “Even if endocrine insufficiencies are not usually the main concern in these often heavily sick patients, ignorance of such deficits could worsen the prognosis and alter even more the [quality of life].” – by Jennifer Byrne
Disclosure: The researchers report no relevant financial disclosures.
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