Von Hippel-Lindau Disease Presenting With Renal Cell Carcinoma and Multiple Organ Involvement: A Case Report Publisher



Hashemi P ; Aalinezhad M ; Shahsavan M ; Naderi Y
Source: SN Comprehensive Clinical Medicine Published:2024

Abstract

Von Hippel-Lindau (VHL) disease is a rare autosomal dominant hereditary syndrome characterized by the development of multiple neoplastic and cystic lesions across various organs, including the central nervous system (CNS), retina, kidneys, pancreas, and adrenal glands. Renal cell carcinoma (RCC) is a significant cause of morbidity and mortality in VHL patients. Adherence to surveillance protocols is crucial for early detection and management of associated complications. We report the case of a 37-year-old Iranian male with a 5-year history of VHL disease, initially diagnosed following the resection of a cerebellar hemangioblastoma at age 17. Two years prior to the current evaluation, at age 35, he experienced acute visual impairment, and MRI revealed a retinal capillary hemangioma. Given the combination of CNS and retinal lesions, along with a family history of VHL-associated tumors, genetic testing via targeted sequencing confirmed a heterozygous pathogenic variant c.223_232del (p.Leu75_Leu81del) in exon 1 of the VHL gene (VHL). Despite the diagnosis, the patient did not adhere to recommended surveillance protocols. Recently, he presented with abdominal discomfort and hematuria. Multidetector computed tomography identified multiple pancreatic cysts, renal cysts, and two enhancing lesions in the left kidney consistent with clear-cell RCC. Additionally, a retroperitoneal solid-cystic mass suggested an extra-adrenal paraganglioma. Biopsy confirmed RCC. The patient is currently under active surveillance, with plans for potential surgical intervention if disease progression occurs. Over 9 months of follow-up, he remains stable with preserved renal function and no new lesions. This case highlights the critical importance of adherence to surveillance guidelines in VHL disease. Early and regular monitoring can facilitate timely detection and management of associated malignancies, potentially preventing complications. The case underscores the need for comprehensive, multidisciplinary care and patient education to improve outcomes in VHL disease. © The Author(s), under exclusive licence to Springer Nature Switzerland AG 2025.