People with VHL should follow the cancer-preventive precautions and self-examinations recommended for everyone. Just because you have VHL does not exempt you from other conditions which occur in the general population. Follow the normal guidelines for breast and testicular self-examinations and take good care of your reproductive health.

There is one notable occurrence in men which is associated with VHL: epididymal cystadenomas, and women have been reported to have cystadenomas of the broad ligament, the embryologic counterpart to the epididymis.

Epididymal cystadenomas are found in 10-26% of men with VHL.1 What are they, and what do they do?

First, what is the epididymis? This little-known gland lies behind the testicle, in the scrotum, on the path to the vas deferens, the vessel which carries the sperm from the testicle to the prostate gland. "The epididymis is as long as the testicle, lying in a flattened C shape against one side of the testicle. It's a complex tubular system which gathers the sperm and stores them until they are needed," says Dr. Harry Wilcox, Professor Emeritus of Anatomy at the University of Tennessee Center for the Health Sciences. "It's a little like the coil on the back of an air conditioner, where the condensation takes place." After having been stored in the epididymis, sperm then move through the vas deferens to the prostate, where they are mixed with seminal fluid from the seminal vesicles and move on through the prostate into the urethra.

The epididymis was previously considered only a conduit through which sperm passes. It is now understood to be a highly specialized portion of the male reproductive system responsible for sperm maturation, mobility and storage.

Second, what is a cystadenoma? Let's divide it into its two basic parts: a cyst and an adenoma.

A cyst is a fluid-filled sac, an enclosed space within a tissue or organ filled with fluid. A small number of cysts are found in the epididymis of some 23% of men in the general population.1 By themselves, cysts are not an occasion for concern, and are not even particularly noteworthy.

An adenoma is a benign tumor. A cystadenoma is a benign tumor with one or more cysts inside it. In other words, it has more mass to it, more density than a cyst.

Papillary [nipple-shaped] cystadenomas of the epididymis are a rare occurrence in the general population. These cysts can occur on one or both sides. When they occur on both sides, they are almost a definitive diagnosis of VHL. They range in size from 1 to 5 centimeters (1/3 to 1 2/3 inches). The man may feel a "pebble" in the scrotum, but they usually are not painful and do not continue to progress.

They may occur during the teen-age years or later in life. One man reported finding them for the first time in his forties. They can be removed if they are annoying, but removing them is much the same operation as a vasectomy, and may result in the disabling of the delivery of sperm on the operated side.

Only one case has ever been reported which seemed to indicate that the cystadenoma had become cancerous. This is much more likely a coincidence, since people with VHL, like others in the general population, occasionally do get cancer in this area. It is important to monitor a cystadenoma, just as you would continue to check a wart on your skin, to make sure that it is in fact a cystadenoma and not another kind of more worrisome tumor. Monitoring is usually done by the urologist with a manual examination or with ultrasound.

In most cases the only "problem" associated with cystadenomas is the minor annoyance of knowing it is there. Occasionally, depending on their position, cystadenomas may block the delivery of sperm and cause infertility. However this is a very rare occurrence. If a cystadenoma is painful you should definitely check with a doctor, since on rare occasions they can become inflamed and rupture.

A corresponding tumor in women is a cystadenoma of the broad ligament.2 The broad ligament is a folded sheet of tissue that drapes over the uterus, uterine tubes and the ovaries. This tumor is felt to arise from the same embryonic tissue as epididymal cystadenomas. In the experience of the National Institutes of Health1 cystadenomas of the broad ligament are very rare. Much more common are the ovarian cysts or endometriomas which occur in the general population. However if an "unusual" tumor is seen in the area of the broad ligament, a cystadenoma associated with VHL should be considered. Please report confirmed cystadenomas of the broad ligament to the VHL Family Alliance research database to help increase our knowledge.

Choyke, Glenn, et al, "Von Hippel-Lindau Disease: Genetic, Clinical, and Imaging Features," Radiology, March 1995, p. 639.
Karsdorp et al, "von Hippel-Lindau disease: new strategies in early detection and treatment," Am J Med 1994, 97:158-168; Korn et al., "Papillary cystadenoma of the broad ligament in von Hippel-Lindau disease," Am J Obstet Gynecol 1990, 163:596-598.

References: See also E.B. Price, "Papillary cystadenoma of the epididymis," Arch Pathol 1971 91:456-470; J.S. Meyer et al., "Papillary cystadenomas of the epididymis and spermatic cord," Cancer 1964,16:1241-1247.

Our thanks to Dr. Gladys Glenn, National Cancer Institute, Bethesda, Maryland, and Dr. Harry H. Wilcox, Memphis, Tennessee, for their assistance in preparing this article.

As published in the VHL Family Forum, 3:3, September 1995. For permission to reprint, please contact the VHL Family Alliance, editor@vhl.org. Further information is available from the VHL Family Alliance, info@vhl.org.