Von Hippel-Lindau syndrome
Pronunciation: von HIP-ul LIN-dow
Hereditary cancer syndrome characterized by development of multiple tumors including renal cell carcinomas and other vascular lesions.
Full Definition
Von Hippel-Lindau (VHL) syndrome is a rare autosomal dominant hereditary cancer syndrome caused by mutations in the VHL tumor suppressor gene located on chromosome 3p25. Patients with VHL syndrome are predisposed to developing multiple tumor types including clear cell renal cell carcinoma, hemangioblastomas of the central nervous system and retina, pheochromocytomas, and pancreatic neuroendocrine tumors. Renal manifestations typically include bilateral, multifocal clear cell renal carcinomas that develop at a younger age than sporadic cases. Management requires lifelong surveillance with regular imaging and genetic counseling for family members. The syndrome affects approximately 1 in 36,000 individuals and requires specialized multidisciplinary care.
Usage
Usage note: Capitalize proper names; hyphenate Hippel-Lindau but not Von Hippel.
In Context
- "Genetic testing confirmed Von Hippel-Lindau syndrome in this young patient with bilateral renal masses." — Genetic counseling report
- "The family history was significant for Von Hippel-Lindau syndrome with multiple affected relatives." — Clinical assessment