对存在与嗜铬细胞瘤风险增高相关遗传性疾病(例如多发性内分泌腺瘤 2A 和 2B、VHL 综合征和 1 型神经纤维瘤病)的无症状患者,应进行筛查。在多发性内分泌腺瘤综合征病例中,发生嗜铬细胞瘤的风险高达 50%。首选筛查是检测血浆中的甲氧基肾上腺素和去甲氧基肾上腺素,因为该检测的敏感性高。[36]Lenders JW, Pacak K, Walther MM, et al. Biochemical diagnosis of pheochromocytoma: which test is best? JAMA. 2002 Mar 20;287(11):1427-34.https://jamanetwork.com/journals/jama/fullarticle/194752http://www.ncbi.nlm.nih.gov/pubmed/11903030?tool=bestpractice.com 对于肾上腺偶发瘤患者,需要使用尿液变肾上腺素、去甲变肾上腺素和儿茶酚胺水平进行筛查,这些检测具有高度特异性。约有 4% 到 7% 的偶发肾上腺肿瘤被证明是嗜铬细胞瘤。[27]Kudva YC, Young WF Jr, Thompson GB, et al. Adrenal incidentaloma: an important component of the clinical presentation spectrum of benign sporadic adrenal pheochromocytoma. Endocrinologist. 1999 Mar;9(2):77-80.https://journals.lww.com/theendocrinologist/Abstract/1999/03000/Adrenal_Incidentaloma__An_Important_Component_of.2.aspx[96]Bernini GP, Vivaldi MS, Argenio GF, et al. Frequency of pheochromocytoma in adrenal incidentalomas and utility of the glucagon test for the diagnosis. J Endocrinol Invest. 1997 Feb;20(2):65-71.http://www.ncbi.nlm.nih.gov/pubmed/9125485?tool=bestpractice.com 具有嗜铬细胞瘤个人史的患者手术切除后,至少每年筛查一次,持续 10 年。[91]Huang KH, Chung SD, Chen SC, et al. Clinical and pathological data of 10 malignant pheochromocytomas: long-term follow up in a single institution. Int J Urol. 2007 Mar;14(3):181-5.http://www.ncbi.nlm.nih.gov/pubmed/17430251?tool=bestpractice.com