The University of Kansas Medical Center has had a long-standing interest in von Hippel-Lindau disease. The clinical team includes geneticists, genetic counselors, radiologists, neurologists, ophthalmologists, nephrologists, and other medical specialists as needed.

R. Neil Schimke, M.D., an internist, is board certified in both genetics and endocrinology. Debra Collins, M.S., is a board certified genetic counselor. Together, they follow over 50 individuals from several families who have or are at risk for having the gene, and therefore the symptoms of von Hippel-Lindau disease.

Over the past fifteen years, the Medical Center team has developed pre-symptomatic testing protocols and participated in research projects to help identify the gene for von Hippel-Lindau.

In 1979, Errol Levine, M.D., a radiologist working closely with the geneticists, published the first studies to establish the value of abdominal computed tomography (CT) scans in identifying abdominal cysts for VHL in family members at risk for VHL who do not have any symptoms. As a result, Dr. Levine and the Medical Center team established that CT scans are a valuable diagnostic tool for early identification of abdominal cysts or tumors requiring surgical intervention.

The geneticists have traveled to families' homes to obtain blood samples for research, arranged the shipment of surgical tissue samples to researchers, reviewed radiology and surgical reports from other institutions, and waited with families during a loved one's surgery to review screening tests needed by family members.

Much of the Medical Center team's work involves encouragement and support for families, as well as the arrangement of diagnostic tests and follow-up. The geneticsts have formed close working relationships with many members of local families and have provided consultation and support for numerous families throughout the United States over the last fifteen years.¹

Dr. Schimke and Ms. Collins frequently contact other geneticists and researchers to exchange knowledge and new information on VHL to assure that all patients receive the best medical care available. Their patients have had the range of brain, eye, and spinal tumors. However, the most rewarding aspects of their work have been the patients who were identified early with renal cell carcinoma and pheochromo-cytoma, resulting in the successful surgical "cure" of these potentially lethal effects of the VHL gene.

1. In addition to the many who have been helped by K.U., Susan and Craig Warnick in Maryland and Joyce Graff and her son in Massachusetts are grateful for the expert and compassionate support they received from Dr. Schimke, Ms. Collins, Dr. Levine, and their team.

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.