Endocrine Abstracts

Introduction: Multiple endocrine neoplasia type 2A (MEN2A) is a multi-glandular autosomal dominant genetic disorder which, most typically, includes medullary carcinoma of the thyroid, pheochromocytoma and primary hyperparathyroidism. The authors present a case study of a young man in whom cardiogenic shock was the first manifestation of pheochromocytoma and MEN2A.

Case report: A 30-year-old man without a past history of hypertension or any other chronic medical problems was admitted to the Emergency Department with severe abdominal pain, vomiting, fever and dyspnea. On admission, he had high blood pressure and tachycardia. Within a few hours cardiac and respiratory failure developed, followed by sudden cardiac arrest in the mechanism of asystole. Resuscitation was conducted effectively, yet the patient remained unconscious, demanding intubation and mechanical ventilation for a few days. The clinical picture of catecholamine crisis (high temperature, high labile values of blood pressure, supraventricular arrythmias, cardiomyopthy) was relevant to the image studies – the computer tomography revealed bilateral adrenal tumors with typical radiologic features of pheochromocytoma (heterogeneous, regular masses with areas of necrosis and calcification). The hormonal tests confirmed the initial diagnosis of pheochromocytoma (elevated 24 h urine collection of metanephrine, elevated plasma metanephrine and chromogranin A). The patient underwent laparoscopic right adrenalectomy and classic left adrenalectomy. Histopathology revealed bilateral adrenal pheochromocytoma that stained positive for chromogranin and synaptophysin with Ki 67 index<2%. Further investigation of the patient showed medullary carcinoma of the thyroid and the patient was qualified for total thyroidectomy. The concomitance of the primary hyperparathyroidim was ruled out. The genetic screening for RET revealed mutations in exon 11, p C634R. The gene mutation was also detected in the patient’s father and sister.

Conclusion: The presence of pheochromocytoma at young age raises the suspicion of the hereditary background of the disease and requires further investigation, especially towards MEN2A.