Phaeochromocytoma is a rare condition; the annual incidence in the general population is less than 1 per 100,000 person-years.[11]Ebbehoj A, Stochholm K, Jacobsen SF, et al. Incidence and clinical presentation of pheochromocytoma and sympathetic paraganglioma: a population-based study. J Clin Endocrinol Metab. 2021 Apr 23;106(5):e2251-61.
https://academic.oup.com/jcem/article/106/5/e2251/6104764
http://www.ncbi.nlm.nih.gov/pubmed/33479747?tool=bestpractice.com
[12]Berends AMA, Buitenwerf E, de Krijger RR, et al. Incidence of pheochromocytoma and sympathetic paraganglioma in the Netherlands: a nationwide study and systematic review. Eur J Intern Med. 2018 May;51:68-73.
http://www.ncbi.nlm.nih.gov/pubmed/29361475?tool=bestpractice.com
[13]Plouin PF, Gimenez-Roqueplo AP. Pheochromocytomas and secreting paragangliomas. Orphanet J Rare Dis. 2006 Dec 8;1:49.
https://www.doi.org/10.1186/1750-1172-1-49
http://www.ncbi.nlm.nih.gov/pubmed/17156452?tool=bestpractice.com
[14]Leung AA, Pasieka JL, Hyrcza MD, et al. Epidemiology of pheochromocytoma and paraganglioma: population-based cohort study. Eur J Endocrinol. 2021 Jan;184(1):19-28.
https://www.doi.org/10.1530/EJE-20-0628
http://www.ncbi.nlm.nih.gov/pubmed/33112261?tool=bestpractice.com
[15]Kim JH, Moon H, Noh J, et al. Epidemiology and prognosis of pheochromocytoma/paraganglioma in Korea: A nationwide study based on the National Health Insurance Service. Endocrinol Metab (Seoul). 2020 Mar;35(1):157-64.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7090309
http://www.ncbi.nlm.nih.gov/pubmed/32207276?tool=bestpractice.com
An annual incidence of 500-1600 phaeochromocytoma or paraganglioma (PPGL) cases has been reported in the US.[16]Chen H, Sippel RS, O'Dorisio MS, et al. The North American Neuroendocrine Tumor Society consensus guideline for the diagnosis and management of neuroendocrine tumors: pheochromocytoma, paraganglioma, and medullary thyroid cancer. Pancreas. 2010 Aug;39(6):775-83.
https://www.doi.org/10.1097/MPA.0b013e3181ebb4f0
http://www.ncbi.nlm.nih.gov/pubmed/20664475?tool=bestpractice.com
PPGL prevalence in the US is estimated to be between 1:2500 and 1:6500.[16]Chen H, Sippel RS, O'Dorisio MS, et al. The North American Neuroendocrine Tumor Society consensus guideline for the diagnosis and management of neuroendocrine tumors: pheochromocytoma, paraganglioma, and medullary thyroid cancer. Pancreas. 2010 Aug;39(6):775-83.
https://www.doi.org/10.1097/MPA.0b013e3181ebb4f0
http://www.ncbi.nlm.nih.gov/pubmed/20664475?tool=bestpractice.com
In the US Olmsted County population-study, the prevalence of phaeochromocytoma was 8 per 100,000 inhabitants (at 1/1/2017).[17]Ebbehoj A, Li D, Kaur RJ, et al. Epidemiology of adrenal tumours in Olmsted County, Minnesota, USA: a population-based cohort study. Lancet Diabetes Endocrinol. 2020 Nov;8(11):894-902.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7601441
http://www.ncbi.nlm.nih.gov/pubmed/33065059?tool=bestpractice.com
Phaeochromocytoma is a rare cause of secondary hypertension, with a prevalence of <1% in a general hypertension outpatient clinic.[2]Lenders JW, Duh QY, Eisenhofer G, et al; Endocrine Society. Pheochromocytoma and paraganglioma: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2014 Jun;99(6):1915-42.
https://academic.oup.com/jcem/article/99/6/1915/2537399
http://www.ncbi.nlm.nih.gov/pubmed/24893135?tool=bestpractice.com
[10]Davison AS, Jones DM, Ruthven S, et al. Clinical evaluation and treatment of phaeochromocytoma. Ann Clin Biochem. 2018 Jan;55(1):34-48.
https://www.doi.org/10.1177/0004563217739931
http://www.ncbi.nlm.nih.gov/pubmed/29027806?tool=bestpractice.com
Autopsy studies show that 0.05% to 0.1% of patients have phaeochromocytomas, indicating that many cases may go undiagnosed or patients may be asymptomatic.[10]Davison AS, Jones DM, Ruthven S, et al. Clinical evaluation and treatment of phaeochromocytoma. Ann Clin Biochem. 2018 Jan;55(1):34-48.
https://www.doi.org/10.1177/0004563217739931
http://www.ncbi.nlm.nih.gov/pubmed/29027806?tool=bestpractice.com
Up to 14% of patients with incidentally discovered adrenal masses on anatomical imaging prove to have a phaeochromocytoma.[10]Davison AS, Jones DM, Ruthven S, et al. Clinical evaluation and treatment of phaeochromocytoma. Ann Clin Biochem. 2018 Jan;55(1):34-48.
https://www.doi.org/10.1177/0004563217739931
http://www.ncbi.nlm.nih.gov/pubmed/29027806?tool=bestpractice.com
The prevalence is equal in men and women and is reported in people of all races. The peak incidence is in the third to fifth decades of life, with an average age at diagnosis of 43 years.[3]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/fulltext
http://www.ncbi.nlm.nih.gov/pubmed/24636754?tool=bestpractice.com
However, around 20% are identified in children, commonly associated with underlying genetic conditions.[3]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/fulltext
http://www.ncbi.nlm.nih.gov/pubmed/24636754?tool=bestpractice.com
[18]Moon JK, Mattei P. Pheochromocytoma and paraganglioma. Semin Pediatr Surg. 2020 Jun;29(3):150926.
http://www.ncbi.nlm.nih.gov/pubmed/32571511?tool=bestpractice.com
Up to one third of cases of phaeochromocytoma are associated with familial syndromes such as multiple endocrine neoplasia 2A and 2B, neurofibromatosis type 1, and Von Hippel-Lindau syndrome.[2]Lenders JW, Duh QY, Eisenhofer G, et al; Endocrine Society. Pheochromocytoma and paraganglioma: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2014 Jun;99(6):1915-42.
https://academic.oup.com/jcem/article/99/6/1915/2537399
http://www.ncbi.nlm.nih.gov/pubmed/24893135?tool=bestpractice.com
[3]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/fulltext
http://www.ncbi.nlm.nih.gov/pubmed/24636754?tool=bestpractice.com
[19]Liu P, Li M, Guan X, et al. Clinical syndromes and genetic screening strategies of pheochromocytoma and paraganglioma. J Kidney Cancer VHL. 2018 Dec 27;5(4):14-22.
http://www.ncbi.nlm.nih.gov/pubmed/30613466?tool=bestpractice.com