Endocrine Abstracts

Objective: Pheochromocytoma is a rare disease with an incidence of 2–6 per million, and a prevalence of 0.1–0.6% in patients with hypertension. Pheochromocytoma may occur sporadically or as part of hereditary syndrome. According to the latest studies, among patients with non-syndromic pheochromocytoma, up to 24% of tumors may be inherited. However, genetic testing was not generally performed until recently. There is still a debate which pheochromocytoma patient should be tested for hereditary syndrome. We started an initiative to create a database of sufficient epidemiological strength to investigate pheochromocytoma in more detail.

Methods: The preliminary registry has at present 3 participating centres in 3 locations and uses an electronic database to assure comparison of different centres. Since 07/2006 retrospective data was included in the database from patients with pheochromocytoma between 1973 and 2007.

Results: Evaluation of the retrospective data entry shows the following results: Of the 166 patients (49.3±14.4 years, range 12–81 years, 49.4% males), 115 pheochromocytomas were unilateral (64 right, 53 left), 19 bilateral, and 4 extraadrenal (no information in 28 patients). The mean size of unilateral pheochromocytoma was 64±25 mm. Fourteen pheochromocytoma were diagnosed as malignant, with only 10 patients showing evidence of metastasis. Genetic testing was performed in only 31 patients revealing a hereditary syndrome in 13 patients (8 RET, 3 VHL, 2 NF1). In addition, a hereditary syndrome was diagnosed clinically in 21 patients (14 MEN, 4 VHL, 3 NF1).

Conclusion: In general, documentation and follow-up of patients with pheochromocytoma was insufficient over the recent years. This emphasizes the need for a clinical national registry including follow-up information of the patients. In our cohort 34 patients (20.5%) had a hereditary form of pheocromocytoma, which is in accordance to previous studies.