Von Hippel-Lindau (VHL) syndrome is caused by germline mutations in the VHL gene and is accompanied by the development of both benign and malignant tumors. Clarithromycin (CAM) is a widely used anti-inflammatory drug that has also been proven effective for treating some cancers. In this study, we present a novel case of a 38-year-old female patient with VHL syndrome confirmed by computed tomography, with no relevant family history. The patient was only offered close follow-up observation after diagnosis, but was orally administered CAM twice daily when her disease progressed. After treatment for 3 months, her inner ear tumors had stopped growing and her kidney cysts had shrunk. Her pancreatic tumors treated with CAM showed no significant increase in size, and the lymph node swelling disappeared. CAM treatment was interrupted for 2 years and then stopped for 5 years when improvements were noted; the patient's condition thereafter gradually improved and finally stabilized with no obvious side effects. We discuss this case in the context of the published literature and consider the possible mechanisms of CAM action in the treatment of VHL syndrome. To our knowledge, this is the first case report of a patient with VHL syndrome treated with CAM.
Keywords: Clarithromycin; central nervous system hemangioblastoma; genetic disease; pancreatic tumor; renal cell carcinoma; von Hippel-Lindau syndrome.