1Unit of Gastroenterology and Digestive Endoscopy, Sandro Pertini Hospital, Rome, Italy
2Unit of Radiology, Sandro Pertini Hospital, Rome, Italy
3Department of Gastroenterology and Hepatology, First Affiliated Hospital of Wenzhou Medical University, Wenzhou City, Zhejiang , The People’s Republic of China
4Unit of Internal Medicine, Sandro Pertini Hospital, Rome, Italy
Received Date: August 30th, 2017; Accepted Date: October 10th, 2017
Pancreatic Cyst; von Hippel-Lindau Disease
A 56-year-old woman presented recurrent episodes of epigastric pain lasted for three years. No pathological evidence came out through the gastroscopy. Given the persistence of pain, the patient underwent an ultrasound, which showed multiple pancreatic cysts. In order to get further informations, an abdominal magnetic resonance (MR) with cholangiography (MRCP) was performed. In particular, Axial T2-weighted MR image showed multiple simple cysts with size <1 cm (Figure1, white arrow), which replace almost the entire pancreas, as also highlighted by the three-dimensional coronal MRCP (Figure 2). The hepato-pancreatic function tests, as well as the CA-19-9, were all normal, while low level of fecal elastase-1 was detected (100-200 μg/g) (Schebo® Biotech Giessen, Germany) and for this reason replacement therapy was started (25.000 IU per meal and 10.000 IU per snack) (Creon®, Abbott, Italy), with an initial symptomatic improvement. A pancreatic von Hippel–Lindau (VHL) disease was confirmed by genetic analysis for mutations of the VHL gene. No extra-pancreatic manifestations related to the underlying disease were occurring. A clinical interview was conducted, from which it emerged that the patient lost her father when he was 70 years owing to a kidney cancer. A genetic counseling has been suggested. The woman was subsequently addressed to an hepatopancreatic center of reference for further investigations and for the definitive management.
VHL disease, a rare hereditary genetic disorder whose gene is mapped on chromosome 3, is characterized by the appearance of benign cysts and tumors in various organs tending to malignant transformation [1, 2]. Its incidence is approximately 1 in 36,000 live births . It is interesting to note that in most of patients a positive family history of the ill is registered, while up to 20% of them arise from de novo mutations . VHL disease shows a broad spectrum of associated conditions like hemangioblastomas of the brain, spinal cord and retina, endolymphatic sac tumors, pheochromocytoma and paraganglioma, renal cysts and renal cell carcinomas (RCCs), pancreatic cysts and neuroendocrine tumors, and endolymphatic sac tumors [2, 3]. Pancreatic manifestations alone may be present in about 7.6% of patients  and may include three types of lesions: simple cysts, serous microcystic adenomas (cystadenomas) and pancreatic neuroendocrine tumors (pNETs) .
All the Authors (MZ, PF, WH, MF, GO) have participated in the work: 1) substantial contributions to conception and design, acquisition of data, or analysis and interpretation of data; 2) drafting the article or revising it critically for important intellectual content; and 3) final approval of the version to be published.
The authors declare that there is no conflict of interests regarding the publication of this paper.