Table of ContentsView AllTable of ContentsSelf-ChecksPhysical ExaminationLabs and TestsImagingDifferential DiagnosesNext in Von Hippel-Lindau GuideHow Von Hippel-Lindau Is Treated
Table of ContentsView All
View All
Table of Contents
Self-Checks
Physical Examination
Labs and Tests
Imaging
Differential Diagnoses
Next in Von Hippel-Lindau Guide
Von Hippel-Lindau(VHL) disease is diagnosed through a physical exam, laboratory testing, and imaging.
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Self-Checks/At-Home Testing
There aren’t currently any at-home testing kits to diagnose VHL. It is most often diagnosed after someone is discovered to have the tumors likely associated with VHL.
An evaluation that can be completed at home is a thorough and accuratefamily history. Although about 20% of VHL happens spontaneously, 80% of VHL is passed down in a family. A child born to a parent with VHL has a 50% chance of inheriting theVHLmutation.A healthcare provider should be notified if there is a family history of VHL.
VHL is ultimately diagnosed through genetic testing. This is not done to screen the general population, but is used when a diagnosis of VHL is suspected. The following are some findings that may suggest the presence of VHL:
This genetic testing may also be done when someone has a family history of VHL,and may be done as early as infancy for a child born to a parent with VHL.
Molecular genetic testing is used to look for the presence of a mutation in theVHLgene. Single gene tests may be used, or a larger molecular panel may be ordered, which also looks for mutations in other genes. These are done through blood testing. Results may take a few weeks to return.
Although the diagnosis of VHL is made through genetic testing, there are findings on imaging tests that may cause healthcare providers to be suspicious of a diagnosis of VHL. Imaging may include either computerized tomography (CT) or magnetic resonance imaging (MRI) of multiple areas to look for the following:
People who have a single hemangioblastoma, renal cell carcinoma, or pheochromocytoma may not necessarily have VHL. These are conditions that can occur without a mutation in theVHLgene.
There are other genetic conditions that can cause multiple tumors to form. You may be evaluated for these if VHL is suspected. These other genetic conditions include:
Summary
A Word From Verywell
Knowing your family history can be important for many reasons, but especially important if you have a family history of VHL.
If you have VHL, keeping up with your appointments with healthcare providers for imaging and screenings is important. These can find any tumors or cysts early and keep you as healthy as possible. Talk to your healthcare team about any new symptoms that develop or any questions that you have about VHL.
7 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.National Organization of Rare Disorders.Von Hippel-Lindau disease.American Society of Clinical Oncology.Von Hippel-Lindau syndrome.van Leeuwaarde RS, Ahmad S, Links TP, Giles RH.Von Hippel-Lindau syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews. University of Washington, Seattle; 1993.MedlinePlus.Multiple endocrine neoplasia.MedlinePlus.Hereditary paraganglioma-pheochromocytoma.MedlinePlus.Neurofibromatosis type 1.MedlinePlus.Meniere’s disease.
7 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.National Organization of Rare Disorders.Von Hippel-Lindau disease.American Society of Clinical Oncology.Von Hippel-Lindau syndrome.van Leeuwaarde RS, Ahmad S, Links TP, Giles RH.Von Hippel-Lindau syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews. University of Washington, Seattle; 1993.MedlinePlus.Multiple endocrine neoplasia.MedlinePlus.Hereditary paraganglioma-pheochromocytoma.MedlinePlus.Neurofibromatosis type 1.MedlinePlus.Meniere’s disease.
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
National Organization of Rare Disorders.Von Hippel-Lindau disease.American Society of Clinical Oncology.Von Hippel-Lindau syndrome.van Leeuwaarde RS, Ahmad S, Links TP, Giles RH.Von Hippel-Lindau syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews. University of Washington, Seattle; 1993.MedlinePlus.Multiple endocrine neoplasia.MedlinePlus.Hereditary paraganglioma-pheochromocytoma.MedlinePlus.Neurofibromatosis type 1.MedlinePlus.Meniere’s disease.
National Organization of Rare Disorders.Von Hippel-Lindau disease.
American Society of Clinical Oncology.Von Hippel-Lindau syndrome.
van Leeuwaarde RS, Ahmad S, Links TP, Giles RH.Von Hippel-Lindau syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews. University of Washington, Seattle; 1993.
MedlinePlus.Multiple endocrine neoplasia.
MedlinePlus.Hereditary paraganglioma-pheochromocytoma.
MedlinePlus.Neurofibromatosis type 1.
MedlinePlus.Meniere’s disease.
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