Changing the Course of an Orphan Disease

Abstract

Patients with von Hippel–Lindau (VHL) disease, a rare autosomal dominant inherited disease,¹ have a shorter life expectancy than the general population.^2,3 A prospective analysis involving 128 patients in Italy showed that mortality among persons in the VHL population who were between 25 and 64 years of age was significantly higher than that in the general population (P=0.0001).³ The development of clear-cell renal cell carcinoma is usually a late event in the course of VHL disease (at a mean of 34 to 61.8 years of age).^3,4 However, extrarenal manifestations of the disease typically occur earlier and are associated with substantial morbidity . . .