Endocrine Abstracts

Introduction: Pheochromocytomas (Pheo) may appear sporadically (SPheo) or as an autosomal dominant inherited disease, named as familial PHEOs (FPheo). The latter are present in younger patients, and usually with multiple tumors, but may occur in patients with apparently simple sporadic tumors with no other syndromic features.

Material and methods: Clinical data of all consecutive patients underwent surgery for Pheo over 35 years in two tertiary referral centers were collected. We compared clinical features, diagnosis, methods, type of surgery, complications and tumor behaviour between SPheo and FPheo patients.

Results: We reviewed 76 patients who underwent surgical resection of Pheo. Fourteen patients (18.4%; 7F) had FPheo and 62 patients (81.6%; 37F) had SPheo. The distribution of FPheo patients was as follows: MEN2A (n=6), NF-1 (n=5), VHL (n=2), and MEN2B (n=1). Age at diagnosis was significantly lower in FPheo than in SPheo patients (42.1±17.2 vs 53.6±14.5 yr; P=0.014). Persistent hypertension was more prevalent in SPheo than in FPheo patients (21.4% vs 51.6%; P=0.041). No differences were found in relation of the presence of Pheo classic triad (headaches, palpitations, and sweating) between both groups. Multiple Pheo were significantly more common in FPheo than in SPheo patients (35.7% vs 3.2%; P=0.001). We did not found significant differences in the percentage of patients with elevation of plasma and/or urinary catecholamine levels (81.8% in FPheo vs 72.5% in SPheo; NS). All SPheo were adrenal tumors whereas one FPheo was adrenal and abdominal (P=0.034). The tumor size was significantly lower in FPheo than in SPheo (4.0±2.0 cm vs 5.5±2.4 cm; P=0.047). There were no complications in FPheo patients compared to 16 (27.1%) SPheo patients (P=0.040). 7 SPheo patients suffered tachycardia, five hypertensive crisis, one stroke, one acute pulmonary edema, one laceration, one died due to renal arterial injury and another one due to hypotension. Tumor recurrence rate was similar in both groups of patients (15.4% in FPheo and 11.3% in SPheo; NS)

Conclusion: FPheo usually appears in young patients with hypertension and family history of Pheo. In our series, FPheo was more frequently associated with MEN2A, with a multiple tumor presentation and smaller size compared to SPheo. Perioperative complications and recurrence rate seem to be similar in both groups. Genetic testing should be considered in all patients, especially in patients with a Pheo family history, young age, multifocal, bilateral and/or extra-adrenal tumors.