Othman Abdulrahman Ahmad, Alrzg Mohammad, Bitar Amina, Alramadan Anas, Nakoul Angel, Al Masri Randa, Melhem Loulitta, Sleiay Bilal, Al Abbas Adnan, Sleiay Mouhammed
Medizinische Fakultät der Universität des Saarlandes, Saarland, Germany.
Faculty of Medicine, Damascus University, Damascus, Syrian Arab Republic.
Ann Med Surg (Lond). 2025 Apr 25;87(6):3980-3983. doi: 10.1097/MS9.0000000000003336. eCollection 2025 Jun.
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.
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.
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.
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.
2A型多发性内分泌腺瘤病（MEN2A）是一种罕见病症，它合并了三种不同的肿瘤：嗜铬细胞瘤、甲状腺髓样癌和甲状旁腺功能亢进。基因检测通常是标准的诊断方法；然而，在本病例中，经济限制使我们放弃了基因检测，转而依靠临床发现。
一名28岁女性因高血压发作、视力模糊、手部发红和多汗就诊于外科。计算机断层扫描证实有多个肾上腺肿瘤。结合甲状腺结节细针穿刺显示的甲状腺髓样癌以及实验室检查中甲状旁腺激素升高，诊断为MEN2A。随后患者接受了肾上腺切除术。本病例是一份中期报告，但我们确实有后续计划。
一种罕见的常染色体突变导致了MEN2A。我们的患者表现出了这种罕见病症的众多临床表现，这使我们放弃了基因检测并做出诊断，以便确定治疗患者症状的适当程序。由于诊断和治疗中资源限制的原因，这种做法是必要的。在此之后，我们的目标是患者生活质量有明显改善，比如不再头痛、高血压发作、出汗和心悸。
本病例表明需要确定考虑低收入国家经济困难的临床标准，以便诊断MEN2A，从而有效治疗该病例。
