嗜铬细胞瘤是一种罕见的疾病;见于<1% 的高血压患者。[9]Towards Optimized Practice Program (Canada). Laboratory endocrine testing guidelines: pheochromocytoma. Jan 2008; reviewed May 2014 [internet publication].http://www.topalbertadoctors.org/cpgs/?sid=13&cpg_cats=48 在美国,年发病率为 3-8/100 万。[10]Sutton MG, Sheps SG, Lie JT. Prevalence of clinically unsuspected pheochromocytomas: review of a 50-year autopsy series. Mayo Clin Proc. 1981 Jun;56(6):354-60.http://www.ncbi.nlm.nih.gov/pubmed/6453259?tool=bestpractice.com 发病率和患病率也许比报道的要高,然而,尸检时嗜铬细胞瘤患病率更高,这提示许多病例未被发现或并无症状。
据报道在所有种族的男女发病率是相同的。发病高峰年龄在 20 多岁至 40 多岁,平均诊断年龄为 42 岁。[11]Yeo H, Roman S. Pheochromocytoma and functional paraganglioma. Curr Opin Oncol. 2005 Jan;17(1):13-8.http://www.ncbi.nlm.nih.gov/pubmed/15608506?tool=bestpractice.com
高达 35% 的嗜铬细胞瘤患者与家族性综合征有关,例如多发性内分泌腺瘤 2A 和 2B、1 型神经纤维瘤病和 Von Hippel-Lindau 综合征。[2]Mazzaglia PJ. Hereditary pheochromocytoma and paraganglioma. J Surg Oncol. 2012 Oct 1;106(5):580-5.http://www.ncbi.nlm.nih.gov/pubmed/22648936?tool=bestpractice.com[3]Canu L, Rapizzi E, Zampetti B, et al. Pitfalls in genetic analysis of pheochromocytomas/paragangliomas - case report. J Clin Endocrinol Metab. 2014 Jul;99(7):2321-6.http://www.ncbi.nlm.nih.gov/pubmed/24758185?tool=bestpractice.com[4]Martucci VL, Pacak K. Pheochromocytoma and paraganglioma: diagnosis, genetics, management, and treatment. Curr Probl Cancer. 2014 Jan-Feb;38(1):7-41.https://www.cpcancer.com/article/S0147-0272(14)00002-6/fulltexthttp://www.ncbi.nlm.nih.gov/pubmed/24636754?tool=bestpractice.com[12]Neumann HP, Bausch B, McWhinney SR, et al. Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med. 2002 May 9;346(19):1459-66.http://www.ncbi.nlm.nih.gov/pubmed/12000816?tool=bestpractice.com