Pheochromocytoma and Paraganglioma

Abstract

A 45-year-old lady presented with abdominal pain for the past 2–3 weeks. It was dull aching, continuous, and localized to right flank without any nausea, vomiting, bladder, or bowel complaints. Ultrasonography of abdomen revealed bilateral adrenal masses, and she was referred to endocrinology for further evaluation. She was a known hypertensive for the last 5 years and was on telmisartan 80 mg, amlodipine 10 mg, hydrochlorothiazide 25 mg, and metoprolol 50 mg per day. In addition, she was also on levothyroxine 125 µg/day. She had history of episodic palpitation not associated with headache or sweating. On evaluation, pulse rate was 108/min and BP 170/110 mm/Hg without any postural drop. There were no mucosal neuromas, cafe-au-lait macules, neurofibroma, bony lesion, retinal angiomas, Marfanoid habitus, or cutaneous lichen amyloidosis. She did not have any features of Cushing’s syndrome or virilization. There was a scar in the neck, and on questioning she disclosed a history of neck surgery 15 years back. Past surgical records revealed that total thyroidectomy was contemplated for medullary thyroid carcinoma. There was no family history of hypertension, thyroid malignancy, or renal stone disease. On investigation, serum potassium was 3.4 meq/L, creatinine 1.1 mg/dl, corrected serum calcium 10.2 mg/dl, phosphorus 4.0 mg/dl, and alkaline phosphate 98 IU/ml. Fasting plasma glucose was 108 mg/dl and HbA1c was 6% and thyroid function tests were normal. Plasma-free metanephrine and normetanephrine were 1,000 pg/ml (<90) and 240 pg/ml (<180), respectively. Serum iPTH was 38 pg/ml (9–65) and 25(OH) D 22 ng/ml (>30). Serum calcitonin was 2 pg/ml (<5). CECT abdomen showed bilateral asymmetrical adrenal masses (right 5 × 3.5 cm and left 2 × 1.5 cm) without any areas of necrosis or calcification. With this clinical and biochemical profile, she was diagnosed to have multiple endocrine neoplasia type 2A with MTC and bilateral pheochromocytoma which was further confirmed on genetic analysis (RET proto-oncogene mutation). After adequate α-and β-blockade, she was subjected to bilateral adrenalectomy. Postoperatively, she was continued on oral hydrocortisone and fludrocortisone. The requirement of antihypertensive drugs was reduced after surgery, and BP was 140/90 on amlodipine 5 mg per day. After 2 weeks, plasma-free metanephrine and normetanephrine were estimated, and these were within the reference range suggestive of successful resection of catecholamine-secreting tumor. Estimation of serum calcitonin, calcium profile, and plasma-free metanephrine and normetanephrine were performed in the family members and were within normal reference range.