Pancreatic Cysts in a Patient with Von Hippel-Lindau Disease Causing Common Bile Duct Obstruction

Abstract

Von Hippel-Lindau Disease (VHL) is characterized by the formation of multiple vascular tumors (primarily in the CNS) in response to the uninhibited action of hypoxia inducible factor (HIF). Normally an adaptive response to ischemia, HIF is regulated by the VHL protein. In individuals with mutations in both genes coding for the VHL protein, there is unregulated action of HIF with subsequent angiogenesis and tumor formation. Among other complications of VHL are pancreatic tumors and cysts. Though pancreatic lesions reportedly occur in up to 77% of VHL patients, symptoms are rare. We present a patient with VHL who developed CBD compression and obstructive jaundice requiring ERCP and stent placement due to diffuse cystic involvement of the pancreas. Case: A 37 yo woman with no previous history presented to another facility with ataxia, dysphagia and headache. After a CT scan revealed two vascular cerebellar lesions, consistent with hemangioblastomas, the patient was transferred to our institution for arterial embolization. Her stay was prolonged by post surgical complications. While recovering, she developed abdominal pain and cholestatic jaundice. Abdominal ultrasonography showed intra- and extra-hepatic biliary ductal dilation, a CBD diameter of 13 mm and multiple cystic lesions in the pancreas. The patient developed fever and leukocytosis, and then underwent an ERCP. The cholangiogram revealed a distal CBD stricture, with obtuse angles suggestive of extrinsic bile duct compression. Brushings of the stricture for histology revealed degenerative bile duct cells and no evidence of malignancy. The stricture was managed with a graduated dilating catheter and a 10 fr stent was placed, which resulted in rapid endoscopically apparent drainage of the biliary tree. The patient's symptoms and liver tests improved and she was discharged to a rehab facility. Comment: Pancreatic lesions can be common in VHL (depending on the family and genetic mutation studied). The most common lesions found in VHL are simple cysts, serous cystadenomas, and neuroendocrine tumors, but adenocarcinoma, metastatic renal carcinoma, and hemangiomas have all been reported. While early satiety and pain from pancreatic cysts occur, CBD obstruction from external compression by a pancreatic cyst in VHL is extremely rare. In summary, this was an unusual case of VHL with pancreatic cystic lesions causing extrinsic biliary obstruction, which was able to be palliated with ERCP and stent placement.