Von Hippel-Lindau disease Disease
About Gene:
Von Hippel-Lindau disease (VHL) is a rare, genetic multi-system disorder in which non-cancerous tumors grow in certain parts of the body. Slow-growing hemgioblastomas—benign tumors with many blood vessels—may develop in the: Brain. Spinal cord. Retinas of the eyes.
Number of Patients: 1
Sign and Symptoms:
- Kidney: sporadic kidney cancer, Birt-Hogg-Dubé (BHD) syndrome, hereditary leiomyomatosis and renal cell carcinoma (HLRCC), tuberous sclerosis complex, succinate dehydrogenase subunit (SDH) Adrenal or pheochromocytoma: succinate dehydrogenase subunit (SDH), multiple endocrine neoplasia 2 syndrome, types A and B (MEN2A and MEN2B) Inner ear: Meniere’s disease Pancreas: pancreatic cancer Retina: retinal hemangioblastomas are unique to VHL. The presences of a retina hemangioblastoma leads to a clinical diagnosis of VHL. Brain or spine: hemangioblastomas in the brain or spine are different than other forms of brain or spine tumors and as such, their diagnosis is considered criteria for a VHL DNA test. Note that research on other types of brain tumors is not relevant to VHL hemangioblastomas
Diagnosis:
(1) Medical history collection (2) USG (3) Biochemical test (4) Antibody test (5) Gastrointestinal tract endoscopy (6) CT scan (7) MRI (8) Retinal examination
Preventions:
Treatment: