39 years old female with exocrine pancreatic insufficiency

Case provided by Simone

History
39 years old female with recurrent diarrhea and decreased levels of pancreatic amylase and lipase indicating exocrine pancreatic insufficiency. At ultrasound, cystic pancreatic lesions were detected.

Imaging findings
MRI of the abdomen shows a polycystic pancreas without detectable pancreatic parenchyma or pancreatic duct (A and B, T2wi). No evidence of a solid pancreatic tumor. Marked compression of the inferior caval vein, in particular at the level of the renal veins (arrows in C, T1wi post contrast). Furthermore marked compression of the splenic vein with consecutive collateral veins from the spleen to the superior mesenteric vein (arrows in D, T1wi post contrast).

Diagnosis
Von Hippel-Lindau disease.

Discussion
Von Hippel-Lindau disease (VHL) is an autosomal dominantly inherited syndrome with inactivation of a tumor suppressor gene. Its prevalence is about one case per 31.000 – 53.000 individuals. 20% of the patients do not have a family history of VHL. Affected patients can develop a variety of benign and malignant tumors: retinal and central nervous system hemangioblastomas, endolymphatic sac tumors, renal cysts and renal cell carcinomas, pancreatic cysts and solid pancreatic tumors, pheochromocytomas and epididymal cystadenomas. The most typical site for central nervous system hemangioblastomas is the cerebellum (44-72%), other sites are the spinal cord and the medulla. The most common causes of death in VHL patients are renal cell carcinoma and neurologic complications from cerebellar hemangioblastomas. Median life expectancy is 49 years. Genetic testing is available, but due to a variable expression of the gene, there is a wide variety of clinical manifestations. Therefore, imaging plays a significant role in the diagnosis and management of VHL.

The prevalence of pancreatic involvement varies between affected families from 0% to 77%. Pancreatic involvement includes simple pancreatic cysts (50-91%), serous cystadenomas (12%), neuroendocrine tumors (5-17%), and very rarely adenocarcinomas. Pancreatic cystic lesions and neuroendocrine tumors rarely exist together in the same patient. Simple pancreatic cysts are rare in the general population. Therefore, pancreatic cysts in a patient with family history of VHL disease indicates the presence of VHL. In VHL, true pancreatic cysts are frequently multiple. In this patient the multitude of simple pancreatic cysts has resulted in exocrine and endocrine pancreatic insufficiency.

Teaching points

  • Think of Von Hippel-Lindau disease in a patient with a polycystic pancreas.
  • Affected patients develop a variety of benign and malignant tumors, most common causes of death are renal cell carcinoma and cerebellar hemangioblastomas.
  • Perform regular multidisciplinary screening to detect and treat complications as soon as possible and to enhance the patient’s overall survival and quality of life.

Recommended reading

Leung-RS at al.
Imaging Features of von Hippel-Lindau Disease.
RadioGraphics. 2008; 28:65-79

Charlesworth et al.
Pancreatic Lesions in von Hippel-Lindau Disease? A Systematic Review and Meta-synthesis of the Literature.
J Gastrointest Surf. 2012; 16:1422-1428

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