Abstract
According to a survey about “The study for diagnosis and treatment of VHL disease” made by grants for research project to overcome intractable diseases from Ministry of Health, Labor and Welfare in 2009, VHL disease patients live all over Japan. Due to multiple operations, decrease of QOL is seen in them. Therefore, it is considered that treatments that save their functions are necessary. The patients’ association of VHL disease is doing activities, but VHL disease is not designated as an intractable disease and that is making patients’ financial burden heavy. Patients are having difficulties in finding jobs or taking out life insurance policies and so forth because of discriminations against their genetic information. Also, they are having deep worries about marriages and inheritance to children. To reduce their stresses, many genetic counselors who are not M.D. physicians are needed. As a study project to overcome intractable diseases, a team of doctors, including neurological surgeons, ophthalmologists, gastroenterology physicians and urologists, are taking counsel together in making a guideline to diagnose, treat and follow up. It is desired to establish a system for VHL disease as early as possible by making hub hospitals all over the nation where all diagnoses （including genetic testing） and treatments can be done.
