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Diagnosis and Treatment > Signs and Symptoms

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Wei Yang Division of Endocrinology, Department of Internal Medicine

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David Pham Department of Radiology, University of California Davis School of Medicine, Sacramento, California, USA

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Aren T Vierra Division of Endocrinology, Department of Internal Medicine

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Sarah Azam Division of Endocrinology, Department of Internal Medicine

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Dorina Gui Department of Pathology, University of California Davis School of Medicine, Sacramento, California, USA

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John C Yoon Division of Endocrinology, Department of Internal Medicine

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Summary

Ectopic ACTH-secreting pulmonary neuroendocrine tumors are rare and account for less than 5% of endogenous Cushing’s syndrome cases. We describe an unusual case of metastatic bronchial carcinoid tumor in a young woman presenting with unprovoked pulmonary emboli, which initially prevented the detection of the primary tumor on imaging. The source of ectopic ACTH was ultimately localized by a Gallium-DOTATATE scan, which demonstrated increased tracer uptake in a right middle lobe lung nodule and multiple liver nodules. The histological diagnosis was established based on a core biopsy of a hepatic lesion and the patient was started on a glucocorticoid receptor antagonist and a somatostatin analog. This case illustrates that hypercogulability can further aggravate the diagnostic challenges in ectopic ACTH syndrome. We discuss the literature on the current diagnosis and management strategies for ectopic ACTH syndrome.

Learning points:

  • In a young patient with concurrent hypokalemia and uncontrolled hypertension on multiple antihypertensive agents, secondary causes of hypertension should be evaluated.

  • Patients with Cushing’s syndrome can develop an acquired hypercoagulable state leading to spontaneous and postoperative venous thromboembolism.

  • Pulmonary emboli may complicate the imaging of the bronchial carcinoid tumor in ectopic ACTH syndrome.

  • Imaging with Gallium-68 DOTATATE PET/CT scan has the highest sensitivity and specificity in detecting ectopic ACTH-secreting tumors.

  • A combination of various noninvasive biochemical tests can enhance the diagnostic accuracy in differentiating Cushing’s disease from ectopic ACTH syndrome provided they have concordant results. Bilateral inferior petrosal sinus sampling remains the gold standard.

Taxonomy:
Clinical Overview, Gland/Organ, Adrenal, Pituitary, Topic, Adrenal, Hormone, ACTH, Cortisol, Condition/ Syndrome, Cushing's syndrome, Ectopic Cushing's syndrome, Metastatic tumour, Microadenoma, Neuroendocrine tumour, Patient Demographics, Age, Adult, Gender, Female, Ethnicity, Black - African, Country of Treatment, United States, Diagnosis and Treatment, Signs and Symptoms, Amenorrhoea, Dyspnoea, Facial plethora, Fatigue, Hypercortisolaemia, Hypertension, Hypokalaemia, Nausea, Obesity, Oedema, Striae, Tachycardia, Thrombophilia, Investigation, ACTH, Angiography, Calcitonin, Chromogranin A, Core needle biopsy, Cortisol (9am), Cortisol, free (24-hour urine), CTPA scan, CT scan, Dexamethasone suppression (high dose), Dexamethasone suppression (low dose), FSH, Gallium scan, Glucose (blood), Haematoxylin and eosin staining, Histopathology, Immunohistochemistry, LH, Potassium, Synaptophysin, Ultrasound-guided biopsy, Medication, Amlodipine, Furosemide, Heparin, Insulin, Lanreotide, Lisinopril, Metformin, Octreotide, Potassium chloride, Somatostatin analogues, Spironolactone, Related Disciplines, Oncology, Radiology/Rheumatology, Publication Details, Case Report Type, Unique/unexpected symptoms or presentations of a disease
DOI:
https://doi.org/10.1530/EDM-19-0033
Volume/Issue:
Volume 2019: Issue 1
Open access
Lima Lawrence Departments of Endocrinology, Diabetes & Metabolism, Cleveland Clinic, Cleveland, Ohio, USA

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Peng Zhang Departments of Pulmonary Medicine & Critical Care, Cleveland Clinic, Cleveland, Ohio, USA

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Humberto Choi Departments of Pulmonary Medicine & Critical Care, Cleveland Clinic, Cleveland, Ohio, USA

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Usman Ahmad Departments of Thoracic and Cardiovascular Surgery, Cleveland Clinic, Cleveland, Ohio, USA

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Valeria Arrossi Departments of Anatomic Pathology, Cleveland Clinic, Cleveland, Ohio, USA

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Andrei Purysko Departments of Diagnostic Radiology, Cleveland Clinic, Cleveland, Ohio, USA

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Vinni Makin Departments of Endocrinology, Diabetes & Metabolism, Cleveland Clinic, Cleveland, Ohio, USA

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Summary

Ectopic adrenocorticotropic hormone (ACTH) production leading to ectopic ACTH syndrome accounts for a small proportion of all Cushing’s syndrome (CS) cases. Thymic neuroendocrine tumors are rare neoplasms that may secrete ACTH leading to rapid development of hypercortisolism causing electrolyte and metabolic abnormalities, uncontrolled hypertension and an increased risk for opportunistic infections. We present a unique case of a patient who presented with a mediastinal mass, revealed to be an ACTH-secreting thymic neuroendocrine tumor (NET) causing ectopic CS. As the diagnosis of CS from ectopic ACTH syndrome (EAS) remains challenging, we emphasize the necessity for high clinical suspicion in the appropriate setting, concordance between biochemical, imaging and pathology findings, along with continued vigilant monitoring for recurrence after definitive treatment.

Learning points:

  • Functional thymic neuroendocrine tumors are exceedingly rare.

  • Ectopic Cushing’s syndrome secondary to thymic neuroendocrine tumors secreting ACTH present with features of hypercortisolism including electrolyte and metabolic abnormalities, uncontrolled hypertension and hyperglycemia, and opportunistic infections.

  • The ability to undergo surgery and completeness of resection are the strongest prognostic factors for improved overall survival; however, the recurrence rate remains high.

  • A high degree of initial clinical suspicion followed by vigilant monitoring is required for patients with this challenging disease.

Taxonomy:
Clinical Overview, Gland/Organ, Adrenal, Pituitary, Thymus, Topic, Adrenal, Hormone, ACTH, Cortisol, Condition/ Syndrome, Bilateral adrenal hyperplasia, Cushing's syndrome, Ectopic ACTH syndrome, Ectopic Cushing's syndrome, Hypokalaemia, Lymphadenopathy, Neuroendocrine tumour, Rhabdomyolysis, Patient Demographics, Age, Adult, Gender, Male, Ethnicity, White, Country of Treatment, United Kingdom, Diagnosis and Treatment, Signs and Symptoms, Buffalo hump, Chest pain, Chest pain (pleuritic), Dyspnoea, Facial fullness, Facial plethora, Hypercortisolaemia, Hyperglycaemia, Hyperpigmentation, Hypertension, Hypokalaemia, Hypotension, Leukocytosis, Lymphadenitis, Metabolic alkalosis, Myasthaenia, Obesity, Photosensitivity, Rhabdomyolysis, Supraclavicular fat pads, Syncope, Weight gain, Investigation, ACTH, ACTH stimulation, Bicarbonate, Biopsy, Blood pressure, Chromogranin A, Cortisol, Cortisol, free (24-hour urine), Creatine kinase, CT scan, Dexamethasone suppression, Glucose (blood), Histopathology, Immunohistochemistry, MRI, PET scan, Potassium, Synaptophysin, White blood cell count, X-ray, Intervention, Resection of tumour, Medication, Dexamethasone, Glucocorticoids, Ketoconazole, Steroids, Publication Details, Case Report Type, Unique/unexpected symptoms or presentations of a disease
DOI:
https://doi.org/10.1530/EDM-19-0002
Volume/Issue:
Volume 2019: Issue 1
Open access