Pancreatic involvement in von Hippel-Lindau disease

Background & Aims: Pancreatic involvement in von Hippel-Lindau (VHL) diseas e, agenetic disorder with a dominant mode of inheritance affecting various organs, has rarely been studied, We assessed the prevalence, type of lesion s, natural history, and impact of pancreatic involvement In patients with V HL, Methods: A total of 158 consecutive patients from 94 families with VHL disease were studied in a prospective French collaborative study, All patie nts underwent systematic screening for VHL lesions, including computerized tomography (CT) scanning of the pancreas reviewed by an experienced radiolo gist, Clinical data, investigations, and treatments performed were also rev iewed, Results: Pancreatic involvement was observed in 122 patients (77.2%) and included true cysts (91.1%),serous cystadenomas (12.3%), neuroendocrin e tumors (12.3%), or combined lesions (11.5%), The pancreas was the only or gan affected in 7.6% of patients, Patients with pancreatic lesions had fewe r pheochromocytomas than those without (14/122 vs, 16/36; P < 0.0001), and patients with neuroendocrine pancreatic tumors had venal involvement less o ften than those without (8/99 vs, 6/20; P = 0.013), None of the patients Wi th neuroendocrine tumors had symptoms of hormonal hypersecretion. Pancreati c lesions evolved in half of patients but required specific treatment in on ly 10 (8.2%) when they were symptomatic or for the resection of large neuro endocrine tumors, Conclusions: Pancreatic involvement is seen in most patie nts with VHL disease. Although symptoms are rare, specific treatment of pan creatic lesions is required in selected patients, mainly those with neuroen docrine tumors.