When an individual is identified with VHL a geneticist should be consulted to coordinate the various tests needed to completely evaluate the proband and also detect asymptomatic carriers among other family members (17,18). The geneticist is the "conductor" of a medical "symphony" which will include many specialties. Without this coordinator, patient care becomes piecemeal and serious oversights can occur. A computerized data base that includes the data on each family member as well as reminders about testing dates and results is useful (17).
Patients should know that some forms of genetic testing are now available (See Appendix 1). Linkage studies, however, require that there are at least two affected family members for whom the commonly used DNA probes are "informative". If the genetic test is successful in excluding VHL (with 99% certainty) only occasional screening of such patients is needed. If a genetic test is not definitive the discovery of VHL may rest with imaging and ophthalmologic testing, which must be continued at least to age 60. Testing can be performed for specific genetic mutations but this process is not generally available.
For patients known to carry the VHL gene or for patients at risk for the disease a number of screening regimens employing clinical laboratory, imaging and ophthalmoscopic tests have been proposed (See Appendix 2). All screening protocols share in common the need for periodic testing throughout most, if not all, of the patient's life. Any new symptoms should be studied immediately without waiting for the next scheduled testing.
Two VHL patient support groups have been formed in the United States and are good sources of information for patients with VHL and health care professionals involved with the treatment of the disease (See Appendix 1) Affiliated chapters are forming in many other countries.
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