Snapshot A 35-year-old women presents to her primary care physician with 2 months of severe episodes of headache, tremulousness, palpitations, and anxiety. The patient has noted a recent change in her voice, and she has difficulty swallowing solids. On physical exam there is a palpable, nontender swelling in the front of her neck that moves with swallowing. There is no cervical lymphadenopathy. Lab studies show hypercalcemia. An ultrasound of the neck shows irregular calcifications within a mass, and an MRI of the abdomen shows the presence of bilateral adrenal lesions. (Multiple endocrine neoplasia [MEN] type IIA) Introduction Overview cancer syndrome with several associated endocrine neoplasias 3 MEN types MEN I MEN IIA MEN IIB all have autosomal dominant inheritance Epidemiology Prevalence MEN I: 1 in 50,000 MEN II: 1 in 30,000 Classification MEN I (Wermer syndrome) MEN1 gene mutation clinical definition: presence of 2 of the 3 P's parathyroid tumors increased PTH causes hypercalcemia results in kidney stones pituitary tumors (prolactin or GH) pancreatic islet cell/endocrine tumors Zollinger-Ellison syndrome causes gastric ulcers insulinomas VIPomas part of watery diarrhea, hypokalemia, and achlorhydria (WDHA) syndrome glucagonomas MEN II divided into MEN IIA and IIB common features medullary thyroid carcinoma pheochromocytoma associated with RET proto-oncogene mutation gain of function mutation MEN IIA (Sipple syndrome) medullary thyroid carcinoma secretes calcitonin pheochromocytoma parathyroid tumors MEN IIB medullary thyroid carcinoma pheochromocytoma oral/intestinal ganglioneuromatosis associated with marfanoid habitus Presentation Symptoms dependent on which type of MEN syndrome MEN I flank pain secondary to kidney stones abdominal pain and dark stools secondary to gastric ulcers watery diarrhea MEN II neck pain, dysphagia, and hoarseness secondary to thyroid mass episodic headaches, palpitations, tremulousness, and anxiety secondary to pheochromocytoma Physical exam MEN I costovertebral angle (CVA) tenderness abdominal tenderness MEN II hypertension tachycardia neck mass or palpable thyroid nodule cervical lymphadenopathy Imaging Ultrasound of neck indications patient with dysphagia or hoarseness findings thyroid nodule follow up with thyroid scintigraphy (radioactive iodine uptake scan) Magnetic resonance imaging (MRI) or computed tomography (CT) scan of abdomen indications patient with symptoms consistent with pheochromocytoma findings adrenal gland mass Studies TSH levels to evaluate thyroid function decreased TSH more concerning for malignancy Serum calcitonin tumor marker for medullary thyroid cancer Free serum metanephrine level elevated in pheochromocytoma follow up with 24-hour urin collection increased urine metanephrines elevated vanillyl mandelic acid (due to breakdown of norepinephrine and epinephrine) Serum PTH and calcium levels elevated in parathyroid tumor Serum glucose elevated in glucagonoma decreased in insulinoma Serum glucagon elevated in glucagonoma Serum insulin and C-peptide elevated in insulinoma Serum gastrin increased in gastrinoma Treatment Medical proton pump inhibitor indications Zollinger-Ellison syndrome modalities omeprazole lansoprazole Surgical thyroidectomy indications medullary thyroid cancer MEN IIA or IIB follow with thyroid hormone supplementation parathyroidectomy indications parathyroid tumor MEN I duodenal-pancreatic surgery indications Zollinger-Ellison syndrome refractory to medical management pancreatic neuroendocrine tumors adrenalectomy indications pheochromocytoma preoperative medications to prevent hypertensive crisis must start with alpha blockade follow with beta blockade modalities complete bilateral adrenalectomy is recommended to reduce risk of recurrence Prognosis Dependent on MEN type and which neoplasias occur in individual patient
QUESTIONS 1 of 4 1 2 3 4 Previous Next Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK (M2.ON.15.183) A 34-year-old patient with a history of anxiety, chronic constipation, chronic headaches, and chronic hypertension presents to the emergency room with severe right flank pain radiating to his scrotum. A urinalysis with stone analysis is performed and the results are shown in figure A. Prior to discharge, it is noted that the patients BP is still 170/110 mmHg. Furthermore, his calcium and PTH levels were both found to be increased. Which of the following representative histology slides of thyroid tissue represents a potential complication of the patients condition? QID: 104189 FIGURES: A Type & Select Correct Answer 1 Anaplastic thyroid cancer 4% (1/25) 2 Medullary thyroid cancer 84% (21/25) 3 Papillary thyroid cancer 0% (0/25) 4 Lymphoma 4% (1/25) 5 Follicular thyroid cancer 4% (1/25) M 6 Question Complexity E Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 2 Review Tested Concept Review Full Topic (M2.ON.15.33) A 24-year-old man is referred to an endocrinologist for paroxysms of headaches associated with elevated blood pressure and palpitations. He is otherwise healthy, although he notes a family history of thyroid cancer. His physical examination is significant for the findings shown in Figures A, B, and C. His thyroid is normal in size, but there is a 2.5 cm nodule palpable in the right lobe. On further workup, it is found that he has elevated plasma-free metanephrines and a normal TSH. Fine-needle aspiration of the thyroid nodule stains positive for calcitonin. The endocrinologist suspects a genetic syndrome. What is the most likely inheritance pattern? QID: 104358 FIGURES: A B C Type & Select Correct Answer 1 Autosomal dominant 68% (58/85) 2 Autosomal recessive 19% (16/85) 3 Mitochondrial 1% (1/85) 4 X-linked dominant 6% (5/85) 5 X-linked recessive 5% (4/85) M 6 Question Complexity E Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 1 Review Tested Concept Review Full Topic
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