Comprehensive management of multiple endocrine neoplasia Type 2A (MEN2A): A multidisciplinary approach

• Author Details:   
• Neelima Gupta
• Nimisha Srivastava
• Jyoti Verma ^*
• Pranjal Srivastava

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Background: Multiple Endocrine Neoplasia Type 2A (MEN2A) is an autosomal dominant disorder characterized by medullary thyroid carcinoma (MTC), pheochromocytomas, and hyperparathyroidism. Early identification through genetic testing for RET proto-oncogene mutations and appropriate surgical interventions, such as prophylactic thyroidectomy, are crucial for optimal patient outcomes.

Case Description: A 42-year-old male presented with episodic hypertension and palpitations. Imaging studies, including computed tomography (CT) and ultrasound, revealed bilateral adrenal masses and thyroid nodules. Genetic analysis identified a mutation in the RET proto-oncogene, confirming a diagnosis of MEN2A. The patient underwent bilateral adrenalectomy and total thyroidectomy. Histopathological examination confirmed bilateral pheochromocytomas and MTC. Postoperative management included monitoring for hyperparathyroidism, a component of MEN2A, through regular assessments of serum calcium and parathyroid hormone levels.

Conclusion: This case underscores the importance of comprehensive evaluation in patients with endocrine tumours, including genetic testing for MEN2A. Early diagnosis and tailored surgical management are vital to prevent complications associated with this syndrome.  Recognizing the constellation of symptoms associated with MEN2A allows for timely intervention, reducing morbidity and mortality. Genetic counselling and regular follow-up are essential components of patient care in hereditary endocrine neoplasia.

Keywords: Multiple endocrine neoplasia type 2A (MEN2A), Medullary thyroid carcinoma (MTC), Pheochromocytoma, Primary hyperparathyroidism.