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Tomomi Nakao First Department of Internal Medicine, Wakayama Medical University, Wakayama City, Wakayama, Japan

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Ken Takeshima First Department of Internal Medicine, Wakayama Medical University, Wakayama City, Wakayama, Japan

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Hiroyuki Ariyasu First Department of Internal Medicine, Wakayama Medical University, Wakayama City, Wakayama, Japan

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Chiaki Kurimoto First Department of Internal Medicine, Wakayama Medical University, Wakayama City, Wakayama, Japan

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Shinsuke Uraki First Department of Internal Medicine, Wakayama Medical University, Wakayama City, Wakayama, Japan

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Shuhei Morita First Department of Internal Medicine, Wakayama Medical University, Wakayama City, Wakayama, Japan

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Yasushi Furukawa First Department of Internal Medicine, Wakayama Medical University, Wakayama City, Wakayama, Japan

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Hiroshi Iwakura First Department of Internal Medicine, Wakayama Medical University, Wakayama City, Wakayama, Japan

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Takashi Akamizu First Department of Internal Medicine, Wakayama Medical University, Wakayama City, Wakayama, Japan

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Summary

Thyroid storm (TS) is a life-threatening condition that may suffer thyrotoxic patients. Therapeutic plasma exchange (TPE) is a rescue approach for TS with acute hepatic failure, but it should be initiated with careful considerations. We present a 55-year-old male patient with untreated Graves’ disease who developed TS. Severe hyperthyroidism and refractory atrial fibrillation with congestive heart failure aggregated to multiple organ failure. The patient was recovered by intensive multimodal therapy, but we had difficulty in introducing TPE treatment considering the risk of exacerbation of congestive heart failure due to plasma volume overload. In addition, serum total bilirubin level was not elevated in the early phase to the level of indication for TPE. The clinical course of this patient instructed delayed elevation of bilirubin until the level of indication for TPE in some patients and also demonstrated the risk of exacerbation of congestive heart failure by TPE.

Learning points:

  • Our patient with thyroid storm could be diagnosed and treated promptly using Japan Thyroid Association guidelines for thyroid storm.

  • Delayed elevation of serum bilirubin levels could make the decision of introducing therapeutic plasma exchange difficult in cases of thyroid storm with acute hepatic failure.

  • The risk of worsening congestive heart failure should be considered carefully when performing therapeutic plasma exchange.

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Fumiaki Kawano Departments of Surgery, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan

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Tadato Yonekawa Neurology, Respirology, Endocrinology and Metabolism, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan

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Hideki Yamaguchi Neurology, Respirology, Endocrinology and Metabolism, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan

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Nobuhiro Shibata Clinical Oncology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan

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Kousei Tashiro Departments of Surgery, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan

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Makoto Ikenoue Departments of Surgery, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan

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Shun Munakata Departments of Surgery, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan

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Kazuhiro Higuchi Departments of Surgery, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan

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Hiroyuki Tanaka Diagnostic Pathology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan

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Yuichiro Sato Diagnostic Pathology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan

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Ayumu Hosokawa Clinical Oncology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan

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Shinsuke Takeno Departments of Surgery, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan

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Kunihide Nakamura Departments of Surgery, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan

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Atsushi Nanashima Departments of Surgery, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan

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Summary

A 54-year-old woman was referred to our hospital with a cervical tumor. CT revealed a cervical tumor extending to the upper mediastinum, tracheal deviation and tumor infiltration in the cervical vessels. She was followed-up because no diagnosis of malignancy was made by cytology. However, 2 months later, a CT scan showed enlargement of the tumor and tracheal stenosis, and a surgical biopsy was performed and she was diagnosed with anaplastic thyroid cancer (ATC). The tracheal tube with tracheal stenosis could not be removed due to the rapid growth of the tumor, necessitating management by mechanical ventilation. Due to the difficulty of surgical resection, she was treated with lenvatinib. A lenvatinib solution was made and administered via a nasogastric tube. After lenvatinib treatment, the tumor volume decreased and the tracheal stenosis improved. The tracheal tube was removed and oral intake became possible. She was discharged and received ambulatory lenvatinib therapy. The tumor was significantly reduced in size, but gradually grew and was exposed through the cervical wound 6 months later. Esophageal perforation occurred 10 months after the start of treatment. Lenvatinib was re-administered via a nasogastric tube. Eleven months later, the patient died of massive bleeding from the exposed cervical tumor. Patients with advanced ATC may require management with mechanical ventilation for airway stenosis or with a nasogastric tube for esophageal stenosis and perforation. We experienced a case in which lenvatinib was safely administered via a nasogastric tube while performing mechanical ventilation.

Learning points:

  • An anaplastic thyroid cancer patient under mechanical ventilator management was treated with lenvatinib via a nasogastric tube.

  • The lenvatinib solution can easily be prepared and administered via a nasogastric tube.

  • The lenvatinib solution was effective for a patient with difficulty in oral intake.

  • Lenvatinib could also improve the prognosis of an anaplastic thyroid cancer patient with severe airway and esophageal trouble.

Open access
J Pedro Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar Universitário de São João, Porto, Portugal
Faculty of Medicine of Universidade do Porto, Porto, Portugal

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F M Cunha Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal

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V Neto Department of Pneumology, Centro Hospitalar Universitário de São João, Porto, Portugal

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V Hespanhol Faculty of Medicine of Universidade do Porto, Porto, Portugal
Department of Pneumology, Centro Hospitalar Universitário de São João, Porto, Portugal
Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal

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D F Martins Faculty of Medicine of Universidade do Porto, Porto, Portugal
Department of Pathology, Centro Hospitalar Universitário de São João, Porto, Portugal

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S Guimarães Department of Pathology, Centro Hospitalar Universitário de São João, Porto, Portugal

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A Varela Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar Universitário de São João, Porto, Portugal
Faculty of Medicine of Universidade do Porto, Porto, Portugal
Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal

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D Carvalho Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar Universitário de São João, Porto, Portugal
Faculty of Medicine of Universidade do Porto, Porto, Portugal
Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal

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Summary

We describe the case of a 56 year-old woman with the almost simultaneous appearance of diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) and a carotid body paraganglioma. Of interest, 6 years earlier, the patient underwent total thyroidectomy due to papillary thyroid carcinoma and, in the meantime, she was submitted to mastectomy to treat an invasive ductal carcinoma of the breast. In order to explain these lesions, an extensive genetic study was performed. Results showed positivity for the presence of the tumor suppressor gene PALB2, whose presence had already been detected in a niece with breast cancer. The patient underwent different procedures to treat the lesions and currently she is symptom-free over 2 years of follow-up.

Learning points:

  • The presence of two rare neoplasms in a single person should raise the suspicion of a common etiology.

  • To the best of our knowledge, this is the first case that shows the coexistence of DIPNECH and paraganglioma.

  • The contribution of the PALB2 gene in the etiology of these rare neoplasms is a possibility.

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J K Witczak Section of Endocrinology, Department of Medicine, Prince Phillip Hospital
Centre for Endocrine and Diabetes Sciences, University Hospital of Wales, Heath Park, Cardiff, UK

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N Ubaysekara Centre for Endocrine and Diabetes Sciences, University Hospital of Wales, Heath Park, Cardiff, UK

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R Ravindran Centre for Endocrine and Diabetes Sciences, University Hospital of Wales, Heath Park, Cardiff, UK

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S Rice Section of Endocrinology, Department of Medicine, Prince Phillip Hospital

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Z Yousef Department of Cardiology, University Hospital of Wales, Heath Park, Cardiff, UK

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L D Premawardhana Centre for Endocrine and Diabetes Sciences, University Hospital of Wales, Heath Park, Cardiff, UK

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Summary

Graves’ disease is associated with tachydysrythmia, cardiac ischaemia and cardiomyopathy – all uncommon in young adults without previous cardiac disease. We present three young individuals who developed cardiac complications after periods of uncontrolled Graves’ disease. Subject 1: A 34-year-old female had severe thyrotoxic symptoms for weeks. Investigations showed fT4: 98.4 (11–25 pmol/L), fT3: 46.9 (3.1–6.8 pmol/L), TSH <0.01 (0.27–4.2 mU/L) and thyrotrophin receptor antibody (TRAb): 34.8 (<0.9 U//l). She had appropriate treatment but several weeks later she became breathless despite improving thyroid function. Echocardiography showed a pericardial effusion of 2.9 cm. She responded well to steroids and NSAIDs but developed active severe Graves’ orbitopathy after early total thyroidectomy. Subject 2: A 28-year-old male developed thyrotoxic symptoms (fT4: 38 pmol/L, fT3: 13.9 pmol/L, TSH <0.01 (for over 6 months) and TRAb: 9.3 U/L). One month after starting carbimazole, he developed acute heart failure (HF) due to severe dilated cardiomyopathy – EF 10–15%. He partially recovered after treatment – EF 28% and had early radioiodine treatment. Subject 3: A 42-year-old woman who had been thyrotoxic for several months (fT4: 54.3; fT3 >46.1; TSH <0.01; TRAb: 4.5) developed atrial fibrillation (AF) and heart failure. Echocardiography showed cardiomegaly – EF 29%. She maintains sinus rhythm following early total thyroidectomy (EF 50%). Significant cardiac complications may occur in previously fit young adults, who have had uncontrolled Graves’ disease for weeks to months. Cardiac function recovers in the majority, but early definitive treatment should be discussed to avoid Graves’ disease relapse and further cardiac decompensation.

Learning points:

  • Cardiac complications of Graves’ disease are uncommon in young adults without previous cardiac disease.

  • These complications may however occur if Graves’ disease had been poorly controlled for several weeks or months prior to presentation.

  • Persistent symptoms after adequate control should alert clinicians to the possibility of cardiac disease.

  • Specific treatment of Graves’ disease and appropriate cardiac intervention results in complete recovery in the majority and carries a good prognosis.

  • Early definitive treatment should be offered to them to prevent cardiac decompensation at times of further relapse.

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Skand Shekhar Section on Endocrinology & Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA

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Sriram Gubbi Diabetes, Endocrinology, and Obesity Branch, National Institute of Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA

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Georgios Z Papadakis Department of Medical Imaging, Heraklion University Hospital, Medical School, University of Crete, Crete, Greece
Computational Biomedicine Laboratory (CBML), Institute of Computer Science (ICS), Foundation for Research and Technology Hellas (FORTH), Heraklion, Greece

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Naris Nilubol Surgical Oncology Program, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

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Fady Hannah-Shmouni Section on Endocrinology & Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA

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Summary

Adrenococortical carcinoma (ACC) is a rare cancer, occurring at the rate of one case in two million person years. Cushing syndrome or a mixed picture of excess androgen and glucocorticoid production are the most common presentations of ACC. Other uncommon presentations include abdominal pain and adrenal incidentalomas. In the present report, a 71-year-old male presented with abdominal pain and was eventually diagnosed with ACC. He was found to have pulmonary thromboembolism following an investigation for hypoxemia, with the tumor thrombus extending upto the right atrium. This interesting case represents the unique presentation of a rare tumor, which if detected late or left untreated is associated with poor outcomes, highlighting the need for a low index of suspicion for ACC when similar presentations are encountered in clinical practice.

Learning points:

  • ACC is a rare but aggressive tumor.

  • ACC commonly presents with rapid onset of hypercortisolism, combined hyperandrogenism and hypercortisolism, or uncommonly with compressive symptoms.

  • Clinicians should have a low index of suspicion for ACC in patients presenting with rapid onset of symptoms related to hypercortisolism and/or hyperandrogenism.

  • Venous thromboembolism and extension of the tumor thrombus to the right side of the heart is a very rare but serious complication of ACC that clinicans should be wary of.

  • The increased risk of venous thromboembolism in ACC could be explained by direct tumor invasion, tumor thrombi or hypercoagulability secondary to hypercortisolism.

  • Early diagnosis and prompt treatment can improve the long-term survival of patients with ACC.

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Nirusha Arnold Westmead Private Hospital, Westmead, Sydney, New South Wales, Australia

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Victor O’Toole Westmead Private Hospital, Westmead, Sydney, New South Wales, Australia

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Tien Huynh Westmead Private Hospital, Westmead, Sydney, New South Wales, Australia

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Howard C Smith Westmead Teaching Hospital, Royal North Shore Teaching Hospital, The University of Sydney, Sydney, New South Wales, Australia

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Catherine Luxford Kolling Institute of Medical Research, Royal North Shore Teaching Hospital, The University of Sydney, Sydney, New South Wales, Australia

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Roderick Clifton-Bligh Kolling Institute of Medical Research, Royal North Shore Teaching Hospital, The University of Sydney, Sydney, New South Wales, Australia

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Creswell J Eastman Westmead Private Hospital, Westmead, Sydney, New South Wales, Australia
Westmead Teaching Hospital, Royal North Shore Teaching Hospital, The University of Sydney, Sydney, New South Wales, Australia

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Summary

Parathyroid-independent hypercalcaemia of pregnancy, due to biallelic loss of function of the P450 enzyme CYP24A1, the principal inactivator of 1,25(OH)2D results in hypervitaminosis D, hypercalcaemia and hypercalciuria. We report two cases of this disorder, with intractable hypercalcaemia, one occurring during gestation and into the postpartum, and the other in the postpartum period. Case 1, a 47-year-old woman with a twin pregnancy conceived by embryo transfer, presented with hypercalcaemia at 23 weeks gestation with subnormal serum parathyroid hormone (PTH) and normal serum 25-OH D levels. She was admitted to hospital at 31 weeks gestation with pregnancy-induced hypertension, gestational diabetes and increasing hypercalcaemia. Caesarean section at 34 weeks gestation delivered two healthy females weighing 2.13 kg and 2.51 kg. At delivery, the patient’s serum calcium level was 2.90 mmol/L. Postpartum severe hypercalcaemia was treated successfully with Denosumab 60 mg SCI, given on two occasions. CYP24A1 testing revealed she was compound heterozygous for pathogenic variants c.427_429delGAA, (p.Glu143del) and c.1186C>T, (p.Arg396Trp). Case 2, a 36-year-old woman presented 4 days after the delivery of healthy twins with dyspnoea, bradycardia, severe headaches, hypertension and generalized tonic-clonic seizures after an uneventful pregnancy. She was hypercalcaemic with a suppressed PTH, normal 25(OH)D, and elevated 1,25(OH)2D levels. Her symptoms partially responded to i.v. saline and corticosteroids in the short term but bisphosphonates such as Pamidronate and Zoledronic acid did not result in sustained improvement. Denosumab 120 mg SCI successfully treated the hypercalcaemia which resolved completely 2 months post-partum. CYP24A1 testing revealed she was homozygous for the pathogenic variant c.427_429delGAA, (p.Glu143del).

Learning points:

  • Hypercalcaemia in pregnancy can be associated with considerable morbidity with few options available for management.

  • In non-PTH-related hypercalcaemia the diagnosis of CYP24A1 deficiency should be considered.

  • Making a definitive diagnosis of CYP24A1 deficiency by genetic testing delays the diagnosis, while the availability of serum 24,25-dihydroxyvitamin D (24,25(OH)2D) will expedite a diagnosis.

  • In pregnant women with CYP24A1 deficiency hypercalcaemia can worsen in the post-partum period and is more likely to occur with twin pregnancies but generally resolves within 2–3 months.

  • Therapeutic alternatives are limited in pregnancy and their effectiveness is short-lived and mostly ineffective. Denosumab used in both our patients after delivery was the most effective agent normalizing calcium and may have benefit as a long-term therapeutic agent in preventing complications in patients with CYP24A1 deficiency.

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Yuri Tanaka Division of Neurology, Respirology, Endocrinology and Metabolism, Department of Internal Medicine, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan

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Taisuke Uchida Division of Neurology, Respirology, Endocrinology and Metabolism, Department of Internal Medicine, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan

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Hideki Yamaguchi Division of Neurology, Respirology, Endocrinology and Metabolism, Department of Internal Medicine, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan

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Yohei Kudo Division of Neurology, Respirology, Endocrinology and Metabolism, Department of Internal Medicine, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan

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Tadato Yonekawa Division of Neurology, Respirology, Endocrinology and Metabolism, Department of Internal Medicine, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan

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Masamitsu Nakazato Division of Neurology, Respirology, Endocrinology and Metabolism, Department of Internal Medicine, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan

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Summary

We report the case of a 48-year-old man with thyroid storm associated with fulminant hepatitis and elevated levels of soluble interleukin-2 receptor (sIL-2R). Fatigue, low-grade fever, shortness of breath, and weight loss developed over several months. The patient was admitted to the hospital because of tachycardia-induced heart failure and liver dysfunction. Graves’ disease with heart failure was diagnosed. He was treated with methimazole, inorganic iodide, and a β-blocker. On the day after admission, he became unconscious with a high fever and was transferred to the intensive care unit. Cardiogenic shock with atrial flutter was treated with intra-aortic balloon pumping and cardioversion. Hyperthyroidism decreased over 10 days, but hepatic failure developed. He was diagnosed with thyroid storm accompanied by fulminant hepatitis. Laboratory investigations revealed elevated levels of sIL-2R (9770 U/mL). The fulminant hepatitis was refractory to plasma exchange and plasma filtration with dialysis, and no donors for liver transplantation were available. He died of hemoperitoneum and gastrointestinal hemorrhage due to fulminant hepatitis 62 days after admission. Elevated circulating levels of sIL-2R might be a marker of poor prognosis in thyroid storm with fulminant hepatitis.

Learning points:

  • The prognosis of thyroid storm when fulminant hepatitis occurs is poor.

  • Liver transplantation is the preferred treatment for fulminant hepatitis induced by thyroid storm refractory to plasma exchange.

  • Elevated levels of soluble interleukin-2 receptor might be a marker of poor prognosis in patients with thyroid storm.

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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.

Open access
Taisuke Uchida Department of Neurology, Respirology, Endocrinology and Metabolism, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan

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Hideki Yamaguchi Department of Neurology, Respirology, Endocrinology and Metabolism, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan

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Kazuhiro Nagamine Department of Neurology, Respirology, Endocrinology and Metabolism, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan

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Tadato Yonekawa Department of Neurology, Respirology, Endocrinology and Metabolism, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan

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Eriko Nakamura Department of Diagnostic Pathology, University of Miyazaki Hospital, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan

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Nobuhiro Shibata Department of Clinical Oncology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan

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Fumiaki Kawano Division of the Gastrointestinal, Endocrine and Pediatric Surgery, Department of Surgery, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan

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Yujiro Asada Department of Diagnostic Pathology, University of Miyazaki Hospital, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan

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Masamitsu Nakazato Department of Neurology, Respirology, Endocrinology and Metabolism, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan

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Summary

We report a case of rapid pleural effusion after discontinuation of lenvatinib. A 73-year-old woman was diagnosed with poorly differentiated thyroid cancer with right pleural metastasis. Weekly paclitaxel treatment was performed for 18 weeks, but it was not effective. Oral administration of lenvatinib, a multi-target tyrosine kinase inhibitor, reduced the size of cervical and thoracic tumors and lowered serum thyroglobulin levels. Lenvatinib was discontinued on day 28 because of Grade 2 thrombocytopenia and Grade 3 petechiae. Seven days after discontinuation of lenvatinib, the patient was hospitalized because of dyspnea and right pleural effusion. Pleural effusion rapidly improved with drainage and re-initiation of lenvatinib and did not recur. Anorexia caused by lenvatinib led to undernutrition, which resulted in death 13 months after initiation of lenvatinib. Autopsy revealed extensive necrosis with primary and metastatic lesions, suggesting that the patient responded to lenvatinib. Physicians should be aware of the possibility of flare-up in patients with thyroid cancer treated with lenvatinib.

Learning points:

  • Autopsy findings revealed that lenvatinib was efficacious in treating poorly differentiated thyroid cancer without primary lesion resection.

  • Flare-up phenomenon may occur in thyroid cancer treated with lenvatinib.

  • Attention should be paid to flare-up phenomenon within a few days of discontinuing lenvatinib.

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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.

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