Differences between sporadic and multiple endocrine neoplasia type 2A phaeochromocytoma.

Abstract

Phaeochromocytoma may be either sporadic or part of a familial cancer syndrome. We have investigated whether there are differences between sporadic and MEN 2A phaeochromocytomas. A retrospective study. We analysed age at presentation, sex, mode of presentation, clinical data, laboratory and imaging techniques, treatment, pathology and follow-up. Forty-six patients diagnosed with phaeochromocytoma between 1979 and 1995 (23 sporadic and 23 familial) at the Hospital Universitario Virgen de la Arrixaca (Murcia, Spain), a tertiary referral centre. Mean age at presentation was 47 +/- 16 years for sporadic and 38 +/- 11 years for familial phaeochromocytoma (P < 0.05). The most common clinical feature and the presenting feature in cases of isolated phaeochromocytoma was hypertension. Of the MEN 2A patients, 52% were asymptomatic at diagnosis and only 35% presented with hypertension. Levels of adrenaline, noradrenaline, dopamine and metanephrines in a 24-hour urine connection confirmed the diagnosis in 95% of the isolated and 91% of the familial phaeochromocytomas. Computed tomography located 100% of the sporadic and 76% of the familial phaeochromocytomas (P < 0.02). All the MEN 2A phaeochromocytomas were bilateral compared with none of the sporadic phaeochromocytomas (P < 0.001). All the patients with familial phaeochromocytoma underwent bilateral adrenalectomy. The patients with sporadic phaeochromocytoma had the affected gland or the tumour, if extraadrenal, removed. In comparing sporadic and MEN 2A phaeochromocytoma we found differences in age at presentation, mode of presentation, clinical data, duration of clinical features, imaging findings bilaterality and type of surgical treatment required.