Total pancreatectomy for the management of multifocal IPMN in Von Hippel Lindau disease

Background : Von Hippel Lindau (VHL) disease is a rare hereditary cancer syndrome caused by mutations in the VHL gene, leading to the formation of multiple tumors and cysts in various organs, including the pancreas. Intraductal papillary mucinous neoplasms (IPMN) are a less common but significant manifestation of VHL due to their potential progression to pancreatic adenocarcinoma.

Methods : We present the case of a 24-year-old female diagnosed with VHL, with a family history of multiple neoplasms and a personal history of hemangioblastoma and clear cell carcinoma, having undergone a right nephrectomy. The patient presented with abdominal pain, and imaging revealed multiple cystic lesions in the pancreas, suggestive of multifocal IPMN. Given the high risk of malignant transformation, a total pancreatectomy with Roux-en-Y reconstruction was performed.

Results : The surgery was completed without major intraoperative complications. Postoperatively, the patient experienced bleeding, managed with transfusions, and significant glycemic dysregulation, controlled with adjusted insulin therapy. After 39 days of hospitalization, the patient was discharged in good general condition. Pathological analysis of the pancreatic lesions revealed the presence of a neuroendocrine tumor and a cystadenoma, in addition to the multifocal IPMN lesions.

Conclusion : This case highlights the importance of close monitoring and aggressive management of pancreatic manifestations in patients with VHL. The presence of multifocal IPMN in the context of VHL represents a significant clinical challenge due to the risk of malignancy. Total pancreatectomy may be necessary to prevent malignant progression in cases of multifocal lesions, despite the risks and complications associated with major surgery. The additional finding of a neuroendocrine tumor and a cystadenoma underscores the heterogeneity of pancreatic manifestations in VHL and the need for a comprehensive diagnostic and therapeutic approach.

This report emphasizes the significance of total pancreatectomy as a crucial intervention in patients with VHL and multifocal IPMN to prevent progression to pancreatic adenocarcinoma. Close monitoring and multidisciplinary management are essential to address postoperative complications and ensure positive long-term outcomes. This case provides valuable insights into the surgical approach to a complex pathology and highlights the importance of early detection and treatment in improving patient prognosis.