What Is Von Hippel-Lindau Disease

  • Alexa McGuinnessBachelor of Medicine, Bachelor of Surgery, Bachelor of the Art of Obstetrics, Royal College of Surgeons in Ireland
  • Sophie OlahMaster of Science - MS, Science Communication, Imperial College London
  • Yuna ChowBSc (Hons), Medicine, University of St Andrews

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Introduction

Von Hippel-Lindau (VHL) disease, also referred to as Von Hippel-Lindau syndrome, is a rare inherited condition causing both cancerous and non-cancerous tumours. It predominantly affects the central nervous system, kidneys, adrenal glands, pancreas, and the reproductive system. The onset of VHL usually presents in young adults. 

The most common tumour that occurs in VHL disease is hemangioblastoma, a non-cancerous tumour composed of newly formed blood vessels typically in the nervous system and or eye. The next most common are renal cell carcinomas, cancerous tumours of the kidneys, and pancreatic neuroendocrine tumours, which can be malignant or benign.

Confirmation of the condition can be made with genetic testing. Signs and symptoms of VHL disease vary depending on the specific tumour a patient has, and, as a result, treatment of the condition also varies from patient to patient.1,2,3

Causes of Von Hippel-Lindau disease

VHL disease is a hereditary condition, following an autosomal dominant pattern.1 Autosomal dominance means that someone with VHL will have a parent with the disease as the VHL gene dominates. Since one gene comes from the mother and one from the father, there is a 50% chance of a VHL affected parent passing the gene onto their offspring. This means that conditions with an autosomal dominant with an autosomal dominant inheritance pattern tend to impact every generation of a family.4

Due to VHL disease being an inherited condition, it commonly occurs in families. However, up to 20% of patients can have a spontaneous gene mutation resulting in VHL.1

Signs and symptoms of Von Hippel-Lindau disease

Signs and symptoms of VHL disease vary depending on the type of tumour, location, and size. Below are the signs and symptoms of the common tumours occurring in VHL disease.3

Hemangioblastoma

Hemangioblastomas primarily affect the central nervous system and eyes. The signs and symptoms of hemangioblastomas are related to damage in these areas and vary from patient to patient.5,6

Retinal hemangioblastomas, found in the eye, are responsible for most cases of VHL disease being detected. This is often presented as eye discomfort and pain coupled with vision impairment.5,7

Hemangioblastomas of the central nervous system can cause a range of signs and symptoms that vary depending on which part of the central nervous system is affected.6

  • Headaches
  • Balance and coordination problems
  • Nausea and vomiting
  • Changes in bowel movements and urination
  • Difficulty eating

Renal cell carcinomas

Renal cell carcinomas within the kidneys can cause various non-specific clinical signs which can be mistaken for common illnesses and kidney issues. Often, signs and symptoms of renal cell carcinomas occur when the disease is more advanced and has spread beyond the kidney:8

  • Blood in urine
  • Abdominal pain

Pancreatic neuroendocrine tumours

Pancreatic neuroendocrine tumours cause complex clinical signs which often are mistaken for other conditions. The pancreas releases different hormones; when these are released in an unregulated way, it can cause a multitude of presentations. Signs and symptoms of pancreatic neuroendocrine tumours usually become more specific as they develop.9,10

  • Abdominal pain
  • Abnormal changes in blood sugar and diabetes mellitus
  • Diarrhoea
  • Dehydration

Diagnosis of Von Hippel-Lindau disease

After visiting a doctor and a thorough medical history is taken, combined with clinical signs and symptoms, your doctor may suggest additional testing. 

Genetic testing

VHL disease is a genetic condition that can be identified with genetic testing. Genetic testing typically involves the collection of blood or saliva which is then sent to the laboratory and analysed. The laboratory analysis determines whether you have the gene mutation which causes VHL.12

Imaging techniques

Advanced imaging techniques can be used to detect and visualise tumours in the body. Imaging techniques used can vary depending on the specific tumour that is suspected but can include X-rays, ultrasounds, magnetic resonance imaging (MRI scans), computed tomography (CT scan) and positron emission tomography (PET scans).1,2,3,13

Management and treatment of Von Hippel-Lindau disease

Management and treatment of VHL disease depends on the specific tumour type, size, and location. Surgery serves as a key management and treatment option for tumours.3,14

Consulting with a surgeon can help you establish what management and treatment options are available to you.3,14

FAQs

Is Von Hippel-Lindau disease hereditary?

VHL disease is a hereditary condition. It follows an autosomal dominant inheritance pattern, meaning there is a 50% chance that someone with the condition will pass it on to their offspring. A small number of patients with VHL disease have it due to a spontaneous mutation.1,4

What is the life expectancy for Von Hippel-Lindau disease?

Those with VHL disease typically experience a reduced life expectancy of around 40 to 50 years of age.2

Can Von Hippel-Lindau disease be prevented?

VHL disease is caused by a genetic mutation that cannot be prevented.4

Is genetic testing for Von Hippel-Lindau disease available?

Genetic testing for VHL disease is available and can determine whether you have the gene that causes VHL disease.12

How common is Von Hippel-Lindau disease?

VHL disease is rare and impacts about one in 36,000 people. Those assigned female at birth and those assigned male at birth are affected equally.1,2

Can Von Hippel-Lindau disease cause cancer?

VHL disease predisposes patients to tumorous growth, both cancerous and non-cancerous ones. Several types of cancer can result from VHL disease, with these commonly including hemangioblastomas, renal cell carcinomas, and pancreatic neuroendocrine tumours.1,2

Can Von Hippel-Lindau disease be cured?

Surgery can be used to remove tumours caused by VHL disease and thus cure them. Unfortunately, as VHL disease is genetic, surgery cannot prevent further tumours from occurring.15

Is there a specific age of onset for Von Hippel-Lindau disease?

The onset of VHL disease most commonly occurs during young adulthood. However, any age can be affected, from infants to elders.3

Summary

Von Hippel-Lindau (VHL) disease is a rare disease, impacting about one in 36,000 people, that results from an inherited mutation. VHL disease causes tumours, both non-cancer and cancerous types. It typically presents in young adults and impacts those assigned female or male at birth equally.

Genetic testing is the primary technique used for diagnosing the condition. As VHL disease can cause a range of tumours, signs and symptoms of the condition can vary. As a result, different patients require different management and treatment, though surgery is the mainstay technique. Unfortunately, those with VHL disease likely face a reduced life expectancy, that being around 40 to 50 years of age.

References

  1. Gläsker S, Vergauwen E, Koch CA, Kutikov A, Vortmeyer AO. Von Hippel-Lindau disease: current challenges and future prospects. OncoTargets and Therapy. 2020; 13: 5669-5690. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7305855/ 
  2. Varshney N, et al. A review of Von Hippel-Lindau syndrome. Journal of Kidney Cancer and VHL. 2017; 4(3): 20-29. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5541202/ 
  3. Mikhail MI, Singh AK. Von Hippel-Lindau syndrome. StatPearls [Internet]. 2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK459242/ 
  4. Lewis RG, Simpson B. Genetics, autosomal dominant. StatPearls [Internet]. 2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK557512/ 
  5. Ruppert MD, Gavin M, Mitchell KT, Peiris A. Ocular manifestation of Von Hippel-Lindau disease. Cureus. 2019; 11(8): e5319. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6776162/ 
  6. Klinger J, et al. Hemangioblastoma and Von Hippel-Lindau disease: genetic background, spectrum of disease, and neurosurgical treatment. Child’s Nervous System. 2020; 36(10): 2537-2552. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7575510/ 
  7. Kumari N, Das S, Bhaduri A, Gandhi A. Retinal hemangioblastoma with extraocular extension: report of three cases. Ocular Oncology and Pathology. 2021; 7(3): 177-181. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8280437/ 
  8. Cairns P. Renal cell carcinoma. Cancer Biomarkers. 2011; 9(1-6): 461-473. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3308682/ 
  9. Ro C, Chai W, Yu WE, Yu R. Pancreatic neuroendocrine tumors: biology, diagnosis, and treatment. Chinese Journal of Cancer. 2013; 32(6): 312-324. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3845620/ 
  10. Sun J. Pancreatic neuroendocrine tumors. Intractable and Rare Diseases Research. 2017; 6(1): 21-28. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5359348/ 
  11. Flugelman MY. History-taking revisited: simple techniques to foster patient collaboration, improve data attainment, and establish trust with the patient. GMS Journal for Medical Education. 2021; 38(6): 109. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8493840/ 
  12. Eisenhofer G, et al. Genetic screening for Von Hippel-Lindau gene mutation in non-syndromic pheochromocytoma: low prevalence and false-positives or misdiagnosis indicate a need for caution. Hormone and Metabolic Research. 2012; 44(5): 343-348. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3501345/ 
  13. Frangioni JV. New technologies for human cancer imaging. Journal of Clinical Oncology. 2008; 26(24): 4012-4021. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2654310/ 
  14. Chittiboina P, Lonser RL. Von Hippel-Lindau disease. Handbook of Clinical Neurology. 2015; 132: 139-156. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121930/ 
  15. Findeis-Hosey JJ, McMahon KQ, Findeis SK. Von Hippel-Lindau disease. Journal of Pediatric Genetics. 2016; 5(2): 116-123. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4918695/ 

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This content is purely informational and isn’t medical guidance. It shouldn’t replace professional medical counsel. Always consult your physician regarding treatment risks and benefits. See our editorial standards for more details.

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Alexa McGuinness

Bachelor of Medicine, Bachelor of Surgery, Bachelor of the Art of Obstetrics, Royal College of Surgeons in Ireland


Alexa is a medical student at the Royal College of Surgeons in Ireland, passionate about healthcare and the role medical research and medical writing plays in optimizing this. She has experience aiding research on public health policy. She also is engaged in medical research, as well as medical writing, including here, at Klarity.

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