Pheochromocytoma and Paraganglioma: Incidence and Comparative Analysis Between Familial and Sporadic Cases in a Portuguese Single Center

Pheochromocytomas and paragangliomas are rare neuroendocrine tumors, with an estimated incidence rate of two to eight cases per million people, and one of the highest heritability rates among neoplasms, with a genetic cause identified in approximately 40% of cases. This study analyzed cases diagnosed within the referral area of Unidade Local de Saúde de Braga between 2004 and 2024, aiming to estimate incidence, characterize the population, and compare sporadic and familial pheochromocytomas and paragangliomas. A total of 85 patients were identified, corresponding to 87 cases, with an average annual incidence of 5.3 cases per million between 2012 and 2024 and a rising trend over the study period. Genetic testing was performed in 61 patients, revealing 43 sporadic and 20 familial cases. The age at diagnosis was significantly lower in familial cases (43.4 ± 12.7 years; p < 0.001). Metastatic disease occurred only in patients with familial pheochromocytomas and paragangliomas, four and six years after diagnosis, while recurrences were observed exclusively in sporadic cases, with a median of seven years after complete remission. These findings highlight the importance of genetic testing and long-term follow-up in patients with pheochromocytoma and paraganglioma, given the risk of metastasis and recurrence even several years after the initial diagnosis.