Efforts to overcome von Hippel-Lindau disease in Japan

Abstract

　von Hippel-Lindau disease (VHL) is an autosomal dominant tumor syndrome, associated with central nervous system hemangioblastoma, retinal hemangioma, renal cell carcinoma, pheochromocytoma / paraganglioma, pancreatic neuroendocrine tumor, and endolymphatic sac tumor. In Japan, the patient alliance group was formed in early 2000s, followed by the launch of the VHL research group. Though collaboration between these two groups, epidemiology, clinical features and real-world clinical practice have been clarified. Clinical guidelines for VHL were published based on that achievement. On the other hand, public support for VHL patients is still insufficient. Further development of a system that ensures appropriate and continuous treatment and enhanced healthcare subsidies for VHL patients are needed.