Prevalence of Hypothyroidism in Patients With Erdheim-Chester Disease

Shekhar, Skand; Sinaii, Ninet; Irizarry-Caro, Jorge A.; Gahl, William A.; Estrada-Veras, Juvianee; Dave, Rahul; Papadakis, Georgios Z.; Tirosh, Amir; Abel, Brent S.; Kłubo-Gwieździńska, Joanna; Skarulis, Monica C.; Gochuico, Bernadette R.; O’Brien, Kevin; Hannah‐Shmouni, Fady

doi:10.1001/jamanetworkopen.2020.19169

Cited by 5 publications

(6 citation statements)

References 33 publications

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“…We did not find any sex, age or BMI differences in those with API. Furthermore, we found no association between inflammatory marker ESR and hsCRP, consistent with similar findings in hypothyroidism [9]. In contrast, previous findings suggested that increased systemic inflammation may accompany adrenal gland involvement [11].…”

Section: Discussionsupporting

confidence: 89%

“…Panhypopituitarism and number of pituitary deficits (centrally occurring hypothyroidism, hypogonadism, DI, and adrenal insufficiency [AI]) were diagnosed by an endocrinologist based on the pituitary hormonal evaluation as outlined by the Endocrine Society guidelines [24]. Specifically, we performed serum free T4 and TSH to test for the hypothalamic-pituitary-thyroid axis, and any low normal or subnormal free T4 combined with low or inappropriately normal TSH was classified as central hypothyroidism [9,10,25]. Central hypogonadism was diagnosed on the basis of two morning serum total testosterone values below 300 ng/dL (or below our laboratory reference range) and low or inappropriately normal serum LH and FSH in association with hypogonadal symptoms.…”

Section: Methodsmentioning

confidence: 99%

“…Initial clinical manifestations of ECD include ostalgia (50%), neurological symptoms (23%), and diabetes insipidus (DI, 22%), which is the most frequently overlooked symptom [3]. We have also previously noted that ECD leads to a wide variety of endocrinopathies such as hypothyroidism, adrenal dysfunction, and hypogonadism [9][10][11][12][13]. Additionally, ECD can also affect the retroperitoneum, pulmonary, cardiovascular, and cutaneous systems [12,[14][15][16][17].…”

Section: Introductionmentioning

confidence: 99%

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Pituitary Imaging Abnormalities and Related Endocrine Disorders in Erdheim–Chester Disease

Shekhar

Irizarry-Caro

Sinaii

et al. 2021

Cancers

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Purpose: We examined abnormal pituitary imaging (API) and associated endocrine dysfunction in subjects with ECD. Methods: A cross-sectional descriptive examination of a natural history cohort study diagnosed with ECD was conducted at a clinical research center. Subjects underwent baseline endocrine tests of anterior and posterior pituitary function and dedicated pituitary gland MRI scans. We determined the frequency of various pituitary imaging abnormalities in ECD and assessed its relationships with age, sex, body mass index (BMI), BRAF V600E status, high sensitivity C-reactive protein (hsCRP), erythrocyte sedimentation rate (ESR), pituitary hormone deficits and number, diabetes insipidus (DI), and panhypopituitarism. Results: Our cohort included 61 subjects with ECD [age (SD): 54.3 (10.9) y, 46 males/15 females]. API was present in 47.5% (29/61) of ECD subjects. Loss of the posterior pituitary bright spot (36.1%) followed by thickened pituitary stalk (24.6%), abnormal enhancement (18.0%), and pituitary atrophy (14.8%) were the most common abnormalities. DI and panhypopituitarism were more frequent in subjects with API without differences in age, sex distribution, hsCRP, ESR, and BRAF V600E status compared to normal pituitary imaging. Conclusions: We noted a high burden of API and endocrinopathies in ECD. API was highly associated with the presence of panhypopituitarism and DI. Therefore, a thorough assessment of hypothalamic–pituitary integrity should be considered in subjects with ECD.

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Section: Discussionsupporting

confidence: 89%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Pituitary Imaging Abnormalities and Related Endocrine Disorders in Erdheim–Chester Disease

Shekhar

Irizarry-Caro

Sinaii

et al. 2021

Cancers

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“…ECD staging should exclude heart, central nervous system and endocrine system involvement with implications for treatment. Hypothyroidism is highly prevalent in ECD patients and may also constitute an adverse event of ECD treatment with interferon-alpha [ 15 , 16 ]. In our case, the primary involvement was the perirenal tissue infiltration with a risk for hydronephrosis and interferon-alpha was proposed as first line treatment.…”

Section: Discussionmentioning

confidence: 99%

Diagnosing a Patient with Erdheim-Chester Disease during the COVID-19 Pandemic

et al. 2021

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Background: Erdheim-Chester disease (ECD) is a rare hematopoietic neoplasm of histiocytic origin characterized by an insidious course. The coronavirus disease 2019 (COVID-19) pandemic has put an enormous strain on healthcare systems worldwide both directly and indirectly, resulting in the disruption of healthcare services to prevent, diagnose and manage non-COVID-19 disease. Case Presentation: We describe the case of a 58-year-old male patient with sporadic episodes of self-resolving mild fever and anemia of chronic disease with onset two years before the current presentation. Positron emission/computed tomography scan revealed the presence of moderately hypermetabolic perirenal tissue masses. In order to achieve diagnosis, repeated perirenal tissue biopsies were performed, and the diagnostic evaluation was complicated by the strain put on the healthcare system by the COVID-19 pandemic. The patient contracted SARS-CoV-2 and required hospitalization, but recovered fully. No further ECD target organ involvement was documented. Treatment options were presented, but the patient chose to defer treatment for ECD. Conclusion: A high index of suspicion and multidisciplinary team collaboration is paramount to achieve diagnosis in rare conditions such as ECD. Disruptions in healthcare services in the pandemic milieu may disproportionately affect people with rare diseases and further study and effort is required to better meet their needs in the pandemic setting.

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“…1,39,40 Hypothyroidism is another frequent endocrinopathy in AOH, and its manifestations (see Table 3) can potentially contribute to poor QoL. 41 Thyroid hormone replacement may help improve QoL and ameliorate symptoms. Providers should be aware that dosage adjustments to maintain a euthyroid state may be necessary during the course of the illness.…”

Section: Endocrine Issuesmentioning

confidence: 99%

Survivorship Issues in Adult Patients With Histiocytic Neoplasms

O’Brien

Dave

Shekhar

et al. 2021

Journal of the National Comprehensive Cancer Network

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Adult-onset histiocytoses (AOH), primarily Rosai-Dorfman disease (RDD), Erdheim-Chester Disease (ECD), and adult Langerhans cell histiocytosis (ALCH), are a group of related histiocytic neoplastic disorders featuring multisystemic manifestations. The disorders are largely incurable, and are essentially chronic neoplastic diseases with a variable prognosis. Prompt diagnosis and treatment is important to prevent debilitating and even life-threatening complications. Survivorship issues abound in AOH, due to their multisystemic manifestations and the sometimes recalcitrant chronic inflammation, which can lead to other debilitating complications such as fatigue, weakness, and pain. Because these disorders are rare, few healthcare professionals are proficient in their management; therefore the aim of these guidelines is to offer guidance on how to manage patients, and how to create survivorship care plans through the efforts of an interdisciplinary team.

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Prevalence of Hypothyroidism in Patients With Erdheim-Chester Disease

Cited by 5 publications

References 33 publications

Pituitary Imaging Abnormalities and Related Endocrine Disorders in Erdheim–Chester Disease

Pituitary Imaging Abnormalities and Related Endocrine Disorders in Erdheim–Chester Disease

Diagnosing a Patient with Erdheim-Chester Disease during the COVID-19 Pandemic

Survivorship Issues in Adult Patients With Histiocytic Neoplasms

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