VHL in the Pancreas

Pancreatic lesions are generally considered to be the least symptomatic among the lesions of von Hippel-Lindau disease. Families report a number of subtle symptoms, though, which may caused by pancreatic cysts.

There are three types of cysts and lesions which may be found commonly in the pancreas: cysts, serous microcystic adenomas, and islet cell tumors.

Pancreatic cysts are found in large numbers of people with VHL, with wide variation in families. The frequency of pancreatic cysts ranges from 0% in two large families to 93% in others.³ The earliest they have been reported is at 15 years, found with ultrasound or CT.

Cysts may be found throughout the pancreas. Cysts are composed of epithelium-lined collections of serous fluid that vary in size from several millimeters to over 10 cm. (over three inches). The serous cystadenoma (or microsyctic adenoma) is a grapelike cluster of multiple microscopic and macroscopic (2mm to 2 cm in diameter) cysts separated by thickened walls of stroma. These tumors are benign and usually do not cause symptoms. Occasionally (rarely) they can cause bile duct obstruction. The mucinous cystadenoma of the pancreas, a premalignant lesion, is not associated with VHL disease. Since cysts and cystadenomas of the pancreas are benign in patients with VHL disease, they generally need not be removed unless they are causing obstructions.

People with pancreatic lesions report a wide variety of symptoms, mostly relatively subtle. Fran experienced discomfort and bloating of the abdomen, and loss of appetite. In her case this was caused by a large number of cysts, which cause compression of her stomach, causing her to feel full. Fran says, "My greatest complaints are difficulty in digesting fats (they simply hurt for a while), and problems caused by the size of the enlarged pancreas, especially pressure discomfort when sitting or bending. It feels just like being nine months pregnant, only my stomach doesn't look it." She and Terry have found that walking helps to speed digestion and relieve the bloated feeling.

One member was told he was "full of pancreatic cysts and there was nothing they could do about them anyways." He was left with the mistaken impression that they were cancer that had spread. We were able to give him questions to ask his doctor and get the reassurance he needed -- they were in fact only cysts, and did not present a danger to him. "It is possible to have innumerable cysts without ever having a problem," Fran says. "Only three of mine have been troublesome, and that's because of their large size and particular location. I wouldn't even know the others were there if it wasn't for the CT and ultrasound pictures." One of Fran's larger cysts was treated by a procedure called percutaneous drainage and hypertonic saline sclerosis, in which the cyst was drained, filled with hypertonic saline solution, and drained again to cause it to deflate and keep it from refilling.

In some infrequent cases the pancreas may become so replaced with multiple small cysts that it becomes nonfunctional, which may result in fatty stools and diarrhea. Symptoms may be relieved with pancreatic enzyme replacement. On rare occasions insulin-dependent diabetes may result. If lesions are placed so as to obstruct the bile ducts, there may be pain or inflammation or infection. Pain is your body's signal to you that there is something wrong which requires attention -- seek medical help immediately, as pancreatitis (inflammation of the pancreas) is a serious condition requiring medical attention.

In the medical literature there are a few rare mentions of adenocarcinomas of the pancreas. Based on his research, Dr. Neumann feels that the rare reports of adenocarcinomas "usually lack histopathologic documentation" and may have been mischaracterized.¹

The most worrisome pancreatic issue is tumors, not cysts, in the islet cell portion of the pancreas. These seem to be more frequent in people with pheochromocytomas. Most islet cell tumors are slow growing and do not cause symptoms. However, they can grow rapidly, cause bile duct obstructions, and can even metastasize to the liver or bone. Islet cell tumors should be watched carefully for signs of aggressive growth.

Many thanks to Fran M., Michigan; Jay S., Florida; Tammy N., Mississippi; and Terry B., Wisconsin, for their assistance in the preparation of this article.

References:
1. Neumann, Hartmut P.H. et al., "Pancreatic Lesions in the von Hippel-Lindau Syndrome," Gastroenterology (1991) 101:465-471.
2. David M. Hough et al., "Pancreatic Lesions in von Hippel-Lindau Disease: Prevalence, Clinical Significance, and CT Findings," AJR (1994) 162:1091-1094.
3. Choyke, Glenn, et al., "Von Hippel-Lindau Disease: Genetic, Clinical, and Imaging Features," Radiology (1995), 194: 629-642.