hippel

Hippel is a German surname. The most prominent association is with Eugen von Hippel, a German ophthalmologist who, together with Arvid Lindau, described a spectrum of vascular tumors in the retina and central nervous system that came to be known as von Hippel-Lindau disease. The disease is a hereditary cancer predisposition syndrome caused by germline mutations in the VHL gene on chromosome 3p25-26 and is typically inherited in an autosomal dominant pattern with variable expressivity.

Clinical features include CNS hemangioblastomas, retinal capillary hemangiomas, pheochromocytomas, renal cell carcinomas, pancreatic neuroendocrine tumors, and endolymphatic sac tumors. Penetrance increases with age; onset commonly occurs in adolescence or early adulthood, but ranges widely. Diagnosis is based on genetic testing for VHL mutations and clinical/imaging criteria, including MRI and ophthalmologic examinations.

Management centers on surveillance and treatment of tumors. Regular MRI scans of brain and spine, abdominal imaging, and biochemical screening for pheochromocytoma are recommended for at-risk individuals; treatment may involve surgical resection, laser therapy, radiation, or targeted therapies as appropriate. Genetic counseling is advised due to autosomal dominant inheritance. The term von Hippel-Lindau disease is widely used, though sometimes Hippel-Lindau syndrome is preferred, to honor both contributors.