In 1977 a 47-year-old man was successfully treated for Renal Cell Carcinoma in both kidneys in our general hospital in Ilava, Slovakia. Later, when he had symptoms of pressure in the brain, it was thought that the cancer in the kidney had spread to his brain. It was only after his death that the pathologist determined that it was not cancer, but a VHL brain tumor and cyst.

After studying the medical literature on VHL, I screened the rest of the family using the diagnostic methods available in our country. Signs of VHL disease — mainly in the central nervous system and the kidneys — were found in another four members of this family.

In 1985 I used ultrasound to diagnose VHL in the kidneys of a woman from another family. In screening the rest of her family I found another two affected people who did not yet have symptoms. At present, out of 60 living members of these two families there are five who are affected with VHL. Six members of these two families died of VHL before the disease was identified.

A third VHL family in Slovakia is being followed by Dr. Streicher in Bojnice. There are 28 living members in this family, eight of whom have VHL. I don’t know any other VHL families who are being regularly followed. I have been following the two families under my care for 15 and 8 years respectively.

Our hospital is small. Nonetheless, within a distance of 80 kilometers (about 35 miles), we have the facilities — ultrasound, CT, ophthalmoscope with fluoresceine angiography — necessary to diagnose and monitor VHL.

In 1991 I made contact with Dr. Hiltrud Brauch of the Molecular Pathology Laboratory of Technical University in Munich, Germany. She did a complete DNA analysis of the members of the first family, and about half the members of the second family. At present we are gathering blood samples from the rest of the second family, and from the family under Dr. Streicher’s care.

All the investigations and therapy are free of charge in Slovakia. The cost is paid by the National Health Insurance Company.

The two families under my care have no pheochromocytomas [adrenal tumors]. During the past fifteen years there has been kidney involvement, but no metastasis. Therefore we use renal sparing techniques and do not like to remove kidneys. Three people had hemangiomas of the brain removed. All of them are in good health.

According to Dr. Neumann, the incidence of VHL in Germany is 1 in 39,000; Dr. Maher calculates one in 35,000 in the U.K. In Slovakia there are about 5 million people, so we would expect about 120 people affected with VHL. In the three families we monitor there are 80 living members, or about 40 potential carriers of the VHL gene. That means that there are at least another 80 people we have not yet found.

We have therefore decided, with Dr. Neumann’s help, to do more publicity among physicians in Slovakia and the Czech Republic, to increase awareness of VHL.

As published in the VHL Family Forum 2:1, March 1994. For permission to reprint, please contact the VHL Family Alliance at editor@vhl.org. Further information is available from the VHL Family Alliance, info@vhl.org.