Boulkina Lioubov S, Newton Christopher A, Drake Almond J, Tanenberg Robert J
Department of Endocrinology, University of North Carolina at Chapel Hill, USA.
Endocr Pract. 2007 May-Jun;13(3):269-73. doi: 10.4158/EP.13.3.269.
To describe a rare case of acute myocardial infarction in a patient with neurofibromatosis 1 and pheochromocytoma and to review the literature on the coexistence of these 2 diseases, the causes of myocardial injury in patients with pheochromocytoma, and the utility of genetic testing and pheochromocytoma screening for those patients and their families.
We present a case report, including the detailed clinical, laboratory, and radiographic data, results of adrenal mass pathology, and results of coronary angiography. We also survey other relevant reports available in the literature.
A 43-year-old woman with a history of long-standing hypertension, neurofibromatosis 1, headaches, sweating, and palpitations presented to the hospital with chest pain and shortness of breath. She was found to have an acute myocardial infarction and pulmonary edema, as well as a right adrenal mass. A pheochromocytoma was suspected, and phenoxybenzamine was added to her treatment regimen. Cardiac catheterization showed nonobstructive coronary disease. The levels of plasma catecholamine metabolites were extremely high. The patient underwent uncomplicated laparoscopic right adrenalectomy 2 weeks after this admission. Surgical pathology confirmed the diagnosis of pheochromocytoma.
Adrenergic crisis attributable to pheochromocytoma can result in acute myocardial infarction even in the absence of obstructive coronary disease. Inclusion of pheochromocytoma in the differential diagnosis of hypertension in patients with neurofibromatosis is very important and helps avoid mistakes in the management of such patients.
描述1例患有神经纤维瘤病1型和嗜铬细胞瘤的急性心肌梗死罕见病例，并回顾有关这两种疾病共存、嗜铬细胞瘤患者心肌损伤原因以及基因检测和嗜铬细胞瘤筛查对这些患者及其家属的效用的文献。
我们呈现1例病例报告，包括详细的临床、实验室和影像学数据、肾上腺肿块病理结果以及冠状动脉造影结果。我们还调查了文献中其他相关报告。
一名43岁女性，有长期高血压、神经纤维瘤病1型、头痛、出汗和心悸病史，因胸痛和呼吸急促入院。她被发现患有急性心肌梗死和肺水肿，以及右侧肾上腺肿块。怀疑为嗜铬细胞瘤，遂在其治疗方案中加用酚苄明。心脏导管检查显示冠状动脉无阻塞性病变。血浆儿茶酚胺代谢产物水平极高。该患者入院2周后顺利接受了腹腔镜下右侧肾上腺切除术。手术病理证实为嗜铬细胞瘤。
即使在没有冠状动脉阻塞性病变的情况下，嗜铬细胞瘤引起的肾上腺素能危象也可导致急性心肌梗死。在神经纤维瘤病患者的高血压鉴别诊断中考虑嗜铬细胞瘤非常重要，有助于避免此类患者管理中的失误。
