Multiple endocrine neoplasia type 2A: a diagnostic challenge case report.

Abstract

Introduction and importance: Multiple endocrine neoplasia type 2A (MEN2A) is a rare condition that combines three different tumors: pheochromocytoma, medullary thyroid cancer and hyperparathyroidism. Genetic testing is usually the standard method of diagnosis; however, financial limitations in this case led us to forego the genetic test and rely on clinical findings.

Presentation of case: A 28-year-old female presented to the surgery department with episodes of hypertension, blurred vision, redness of hands, and excessive sweating. Computed tomography confirmed multiple adrenal tumors. Combined with medullary thyroid cancer that was demonstrated in a fine needle aspiration from thyroid nodule and elevated parathyroid hormone in laboratory investigation, the diagnosis of MEN2A was made. Then the patient underwent an adrenal gland excision. This case is an interim report, but we did have a follow-up plan.

Clinical discussion: A rare autosomal mutation causes MEN2A. Our patient exhibited numerous clinical manifestations of this rare condition, which led us to forego the genetic testing and make the diagnosis in order to decide the proper procedures to treat the patient's symptoms. This maneuver was necessary because of limitations due to resource constraints in diagnosis and treatment. Following that, a noticeable change in quality of life was what we aimed for, such as the absence of headaches and episodes of hypertension, sweating, and palpitations.

Conclusion: This case demonstrates the need for confirming clinical criteria that consider the financial difficulties of low-income countries in order to diagnose MEN2A, which, therefore, will result in effective treatment of this case.