Living with Von Hippel-Lindau syndrome
An inherited condition that causes tumors and fluid-filled sacs (cysts) in many parts of the body, including the brain, eyes, and kidneys.
Understanding Von Hippel-Lindau syndrome
Tumors may be noncancerous or cancerous. They most often appear in young adulthood, but signs can occur at any age. Hemangioblastomas (growths of new blood vessels) can form in the brain, spinal cord, and retina. Cysts are common in the kidneys, pancreas, and genital tract. Pheochromocytomas, usually noncancerous tumors, most often occur in the adrenal glands.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Growths in the brain (cerebellar hemangioblastoma)
- Growths in the retina that can reduce vision
- Headaches and vomiting
- Loss of muscle coordination (ataxia)
- High blood pressure
- Kidney cancer (renal cell carcinoma)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, cancer specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in VHL are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Alliance to Cure Cavernous Malformation and VHL Alliance may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Cancer specialists (oncologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Alliance to Cure Cavernous Malformation, VHL Alliance
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Alliance to Cure Cavernous Malformation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Von Hippel-Lindau syndrome is caused by changes in the VHL gene. A child can get it from one parent with the changed gene (autosomal dominant).
Also known as: cerebroretinal angiomatosis; familial cerebello-retinal angiomatosis; familial cerebelloretinal angiomatosis; hippel lindau syndrome; lindau disease; lindau' disease
Patient organizations
- Alliance to Cure Cavernous MalformationVon Hippel-Lindau syndrome · United States
- VHL AllianceVon Hippel-Lindau syndrome · United States
- Action to Cure Kidney CancerVon Hippel-Lindau syndrome · United States
- American Cancer SocietyVon Hippel-Lindau syndrome · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Von Hippel-Lindau syndrome.
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