Von Hippel-Lindau(VHL) disease is diagnosed through a physical exam, laboratory testing, and imaging.
seksan Mongkhonkhamsao / Getty Images
Self-Checks/At-Home Testing
There arent 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.
seksan Mongkhonkhamsao / Getty Images
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.
VHL most often causes benign tumors calledhemangioblastomas.
Although they arent cancerous, they may cause other problems or side effects.
This is not done to screen the general population but is used when a diagnosis of VHL is suspected.
Molecular genetic testing is used to look for the presence of a mutation in theVHLgene.
These are done through blood testing.
Results may take a few weeks to return.
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.
This testing may be prompted by the finding of suspicious tumors or cysts on imaging studies.
The imaging studies are done toevaluate the symptoms these tumorsmay cause.
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.
National Organization of Rare Disorders.Von Hippel-Lindau disease.
Children’s Hospital of Philadelphia.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.
University of Washington, Seattle; 1993.
MedlinePlus.Neurofibromatosis key in 1.
