Dr. Karina Villar, a young doctor in Spain who has relatives with VHL, is heading up an effort to develop a VHLFA affiliate in Spain. Karina moderates the online discussion group in Spanish, and has prepared an overview of VHL for physicians in Spanish which was recently published in a medical magazine sponsored by the Official College of Physicians of Toledo (Spain). She has teamed up with Dr. Mercedes Robledo (a more established research clinician) to develop a Spanish VHL Family Association.

They are in touch with about 25 VHL families in Spain. Along with Karina, Dr. Robledo has put together a committee of clinicians that is working to prepare a set of guidelines for VHL management nationwide. It adopts guidelines established by the VHLFA, but takes into consideration specific aspects of the Spanish culture and health care system.

Dr. Robledo is working at the recently inaugurated Spanish National Cancer Center and has started to create a VHL database. They are gathering several types of information from individuals with VHL: 1) DNA, 2) an extensive survey of lifestyle, habits, etc, and 3) (whenever possible) tissue samples. They are not only seeking to match specific VHL mutations with particular phenotypes, but they are also investigating the influence of other genes and environmental factors on the development of VHL -- age of onset, severity of disease, number and location of tumors, etc.

Such a complex study can only be carried out successfully if the number of subjects is large enough. Therefore, they are networking with other physicians who treat persons with VHL to create a large repository of DNA samples and patient information. They hope to get in touch with many doctors that treat people with VHL all over the world. Physicians and patients willing to participate in their efforts should contact kvillar@telefonica.net.

South America

The Chilean Medical Association just approved a booklet in Spanish about VHL, to be distributed to 40,000 South American doctors. This booklet was prepared by member Pierre Jacomet, based on the VHL Handbook but modified to align with the South American health care system and culture. The booklet was reviewed by Dr. Myriam Gorospe, Research Chairman of the VHL Family Alliance, and funded by Recalcine Pharmaceuticals. Special thanks to Alejandro Weinstein, Sr., CEO, and Dr. Pablo Rodriguez, Medical Director, of Recalcine, and the Colegio Médico de Chile.

Dr. José Claudio Rocha from Saõ Paulo, Brazil, reported to the VHL Symposium in Minnesota that in the three years since the beginning of his study on VHL, he has identified 16 distinct families with VHL in Brazil, and is projecting a very similar penetration of VHL in the population there (approximately one in 34,000). Dr. Rocha, who is also doing DNA testing for VHL in Brazil, has a website in Portuguese and Spanish at http://www.hcancer.org.br/

As printed in the VHL Family Forum 8:4, December 2000. For permission to reprint, please contact VHL Family Alliance, editor@vhl.org. Further information is available from the VHL Family Alliance, info@vhl.org.