Case Report: Von Hippel-Lindau syndrome with diabetes and hypertension: a four-year clinical trajectory

This case report documents the 4-year longitudinal clinical course of a 45-year-old man with preexisting type 2 diabetes mellitus (T2DM) and hypertension, from his initial diagnosis of von Hippel–Lindau (VHL) syndrome until his death, covering 4 years of continuous treatment and follow-up. Driven by the neoplastic predisposition caused by VHL germline mutations, the patient developed progressive multisystem involvement, with lesions in the cerebellum, kidneys, adrenal glands, and pancreas identified radiologically but not pathologically confirmed. According to the Dutch and Danish criteria, a diagnosis of VHL disease can be established based on clinical and radiological findings combined with molecular genetic testing. Although the diagnosis was ultimately confirmed, it was established only after the patient had already developed symptomatic multisystem disease. Delayed recognition of the underlying condition may have limited opportunities for earlier intervention. The observed progression of the disease, however, cannot be attributed to delayed recognition alone; the multisystem nature and poor prognosis of VHL disease itself may also have contributed. Despite repeated multidisciplinary team consultations and multimodal treatment, the disease continued to progress and eventually led to the patient’s death. This report aims to heighten awareness of the pathophysiological interplay, diagnostic challenges, and therapeutic considerations in patients with VHL syndrome.