von Hippel-Lindau disease
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Pathology
- angiomatosis
- polycystic kidney disease
- associated neoplasms
- medulloblastoma
- pheochromocytoma
- hemangioblastoma (CNS)
- cysts &/or tumors (benign or malignant) may develop around the hemangioblastomas
- mean age earlier than renal cell carcinoma[5]
- hemangioma (spinal cord, adrenal, lung,liver)
- angioma (retina)
- mean age earlier than renal cell carcinoma[5]
- cyst (pancreas, kidney)
- pancreatic adenocarcinoma
- islet cell tumor - pancreatic neuroendocrine tumor
- renal cell carcinoma (mean age 44 years)[5]
- epididymal cystadenoma
| VHL type | molecular defect | clinical manifestation |
|---|---|---|
| type 1 | HIF1-alpha (u) | hemangioblastomas, decreased risk of Pheo, RCC |
| type 2A | HIF1-alpha (u) | hemangioblastomas. Pheo. low risk of RCC |
| type 2B | HIF1-alpha (u) | hemangioblastomas, Pheo, high risk of RCC |
| type 2C | IF1-alpha (d) | Pheo only |
HIF1-alpha (u): upregulation of HIF1-alpha
HIF1-alpha (d): retains ability for degrade HIF1-alpha
RCC: renal cell carcinoma
Pheo: pheochromcytoma
Genetics
- autosomal dominant
- mutation in the VHL gene (3p25-26)
Clinical manifestations
- nervous system
- headaches
- gait & balance impairment
- dizziness
- weakness of the limbs
- visual impairment
- hypertension
Complications
- blindness
- permanent brain damage
- death
Management
- varies according to the location & size of tumor(s) & associated cyst(s)
- surgery or radiation for CNS tumor(s) when symptomatic
- prognosis
- depends on the location & complications of tumor(s)
- prognosis is improved with early treatment
- death is usually caused by complications of brain tumors or renal cell carcinoma
- belzutifan (Welireg) FDA-approved to treat cancers associated with von Hippel-Lindau disease
More general terms
Additional terms
References
- ↑ Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 2399
- ↑ Kaelin WG. Molecular basis of the VHL hereditary cancer syndrome. Nature Reviews Cancer 2:673-82, 2002 PMID: https://www.ncbi.nlm.nih.gov/pubmed/12209156
- ↑ Medical Knowledge Self Assessment Program (MKSAP) 14, American College of Physicians, Philadelphia 2006
- ↑ Bankhead C FDA Approves First Drug for Von Hippel-Lindau-Associated Tumors. Objective response or stable disease in 100% of renal cell carcinomas. MedPage Today August 13, 2021 https://www.medpagetoday.com/hematologyoncology/renalcellcarcinoma/94034
- ↑ 5.0 5.1 5.2 5.3 NEJM Knowledge+
- ↑ NINDS Von Hippel-Lindau Disease (VHL) Information Page https://www.ninds.nih.gov/Disorders/All-Disorders/Von-Hippel-Lindau-Disease-VHL-Information-Page
Patient information
von Hippel-Lindau disease patient information