Epidemiology

Phaeochromocytoma is a rare condition; the annual incidence in the general population is less than 1 per 100,000 person-years.[13][14][15][16][17] An annual incidence of 500-1600 phaeochromocytoma or paraganglioma (PPGL) cases has been reported in the US.[18] PPGL prevalence in the US is estimated to be between 1:2500 and 1:6500.[18]

In the US Olmsted County population-study, the prevalence of phaeochromocytoma was 8 per 100,000 inhabitants (at 1/1/2017).[19]

Phaeochromocytoma is a rare cause of secondary hypertension, with a prevalence of <1% in a general hypertension outpatient clinic.[12] 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.[12] Up to 14% of patients with incidentally discovered adrenal masses on anatomical imaging prove to have a phaeochromocytoma.[12]

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] However, around 20% are identified in children, commonly associated with underlying genetic conditions.[3][20]

Approximately 35% to 40% of patients with phaeochromocytoma or paraganglioma (together known as PPGL) have a germline mutation in one of the known PPGL susceptibility genes such as RET (associated with multiple endocrine neoplasia type 2) or VHL (associated with Von Hippel-Lindau syndrome).[1][3][4][5]

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