How Von Hippel-Lindau Disease Is Diagnosed

Von Hippel-Lindau (VHL) disease is a hereditary condition that causes tumors and cysts to grow in multiple areas of the body. This condition can be challenging to diagnose because the symptoms are often vague. The only way to know for sure that you have the disease is with genetic testing.

If you are suspected of having VHL disease, your healthcare team may order imaging scans and blood tests and do a physical examination to check for tumors. In this article, the tests used to diagnose VHL will be discussed.

Nurse taking blood from a patient in hospital

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Self-Checks/At-Home Testing

VHL-related tumors are rare and may present with few if any symptoms, so there are no self-checks that you can do at home to detect these tumors.

If you know you are a carrier of a faulty VHL gene, your healthcare provider should organize regular screening tests for tumors so they can be found early.

Labs and Tests

If your healthcare provider suspects you have VHL, they may suggest genetic testing to look for a potential mutation in the VHL gene. Everyone has a VHL gene that regulates cell growth and division. But when it is impaired, the cells mutate and divide uncontrollably, causing VHL disease.

A healthcare professional will also order several lab tests, such as a complete blood count (CBC) and liver function tests, to check your general health and detect any potential changes in your blood cell levels. A high red blood cell count, for example, may indicate polycythemia, a condition sometimes associated with VHL.

Recap

The only way to accurately diagnose VHL is with genetic testing. You may also have other blood tests to check your general health and blood cell counts.

Physical Examination

VHL disease can cause tumors or cysts to form in up to 10 parts of the body, including the brain, eyes, kidneys, pancreas, adrenal glands, and inner ear. The examination you receive from your healthcare provider will depend on the symptoms you are experiencing.

A benign (noncancerous) central nervous system tumor called a hemangioblastoma is the most common type of VHL tumor, affecting 60%–80% of patients. If you are experiencing symptoms of a tumor in your brain or spine, your healthcare provider may suggest that you see a neurologist (a doctor who specializes in brain and nerve conditions).

The doctor will perform a neurological exam. This will include an assessment of your mental status, motor and sensory skills, balance and coordination, reflexes, and functioning of the nerves.

Other examinations you may receive will depend on where in the body the suspected tumor is and may include:

  • For suspected kidney tumors: A physical exam with special attention given to checking for a mass in the abdomen, flank, or back, as well as checking blood pressure.
  • For suspected eye tumors: The doctor will examine the eye with a lighted instrument called an ophthalmoscope and a slit lamp, which is a microscope with a light attached to it.

Recap

The most common VHL tumors affect the central nervous system, consisting of the brain and spinal cord. Your doctor may send you to a specialist for a neurological exam to check your motor skills, balance, and reflexes. For suspected kidney tumors, your doctor may exam your abdomen or back for masses. For eye tumors, you will be given an eye examination.

Imaging

The imaging tests you have for VHL-related tumors may depend on where they are in the body. Because VHL tumors are rare and have some of the same features as other tumors, a diagnosis may be difficult.

Imaging studies used to diagnose VHL tumors or cysts include:

  • Abdominal ultrasound: An ultrasound is a painless test that uses high-frequency sound waves to look inside your body. It is helpful in locating the tumors in the kidneys and pancreas.
  • Computed tomography (CT) scan: A CT scan involves the use of multiple X-ray images that form three-dimensional images of the body. CT scans are useful for showing lesions scattered throughout the body, such as in the brain, pancreas, and kidneys.
  • Magnetic resonance imaging (MRI) scan: A pain-free, noninvasive medical test that produces images of the structures inside your body using a strong magnetic field and radio waves. Using MRIs is the best way to visualize both solid tumors and cysts, which may be present with VHL disease.
  • Angiogram: This test, which uses X-ray contrast to view blood vessels, can help show the blood vessels that are connected to the tumor. This information is particularly helpful during surgery to remove the tumor.

Recap

Ultrasound examinations, CT and MRI scans, and a special X-ray called an angiogram may be used to diagnose VHL-related tumors.

Differential Diagnosis

VHL is a complicated disease that can cause tumors to grow in up to 10 different parts of the body, including kidneys, adrenal glands, pancreas, brain, spine, retina (eye), inner ears, reproductive tract, liver, and lungs. Because of this, the symptoms of VHL-related tumors overlap with a wide range of diseases that must be ruled out when making a diagnosis.

These include:

Recap

VHL disease can cause tumors to grow in up to 10 areas of the body. This can lead to symtoms that are similar to a number of different diseases and conditions.

Summary

The only way to definitively diagnose VHL is with a blood test to check for an alteration in the VHL gene. VHL-related tumors can be diagnosed with a number of methods, including lab tests and imaging techniques such as CT, MRI, and ultrasound scans.

A Word From Verywell

If you are diagnosed with VHL, your healthcare provider should arrange regular screening tests to check for tumors. The checkups could include blood tests, yearly eye examinations, an ultrasound of your kidneys, and an MRI of your brain. This approach will help your healthcare team discover and treat tumors early.

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3 Sources
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