How Is Hemangioblastoma Diagnosed

A diagnosis of a hemangioblastoma is usually made based on your symptoms, findings on magnetic resonance imaging (MRI) and computed tomography (CT) scans, and if necessary, genetic testing.

These noncancerous, slow-growing tumors are rare, and their symptoms mimic many other conditions, so they can be easily missed. Sometimes hemangioblastomas are detected incidentally, while getting imaging for other suspected conditions.

This article will discuss the diagnostic tests you may undergo if your doctor suspects a hemangioblastoma.

Self-Checks/At-Home Testing

Hemangioblastomas are rare and may present with little or no symptoms, so there are no self-checks that you can do at home to detect these benign (not harmful) tumors. Currently, there are no routine screening tests to help make an early diagnosis of the condition, either.

Patients with a family history of Von Hippel-Lindau (VHL) syndrome may undergo genetic testing and a screening CT to look for the presence of hemangioblastoma tumors. 

Physical Examination

If you are experiencing symptoms like new vision changes, balance issues, sensory loss, or headaches, it is likely that a condition is affecting your nervous system. In this case, you may want to see your primary care doctor, who may suggest that you see a neurologist, a doctor who specializes in conditions of the nervous system.

At your neurologist appointment, a healthcare provider, usually a nurse, will record your weight, vitals, and general medical history prior to recommending imaging and lab tests to help diagnose your condition. 

The neurologist will then perform a focused physical exam, called a neuro exam. There are many aspects of this exam, including an assessment of your mental status, motor and sensory skills, balance and coordination, reflexes, and functioning of the nerves. The extent of the exam depends on many factors, including the severity of your initial problem, your age, and your prior medical history. 

A complete neurological exam consists of:

• Mental status exam
• Assessment of motor function and balance
• Sensory exam
• Checking reflexes
• Evaluation of the 12 cranial nerves

Labs and Tests 

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

If your doctor highly suspects VHL, the doctor may suggest genetic testing to help uncover 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 the VHL syndrome.

Imaging

Because hemangioblastomas are rare and have some of the same features as other tumors, a diagnosis may be difficult. MRI and CT scanning are used to view swelling around the tumor. Ultrasound, which uses high-frequency sound waves, is also helpful in locating the tumor.

A spinal angiography may be used for large tumors when the diagnosis can’t be made by MRI alone. Angiography shows the definition of the tumor, including the blood vessels feeding and draining it. This information is particularly helpful during surgery to remove the tumor.

Tests can confirm whether you have a hemangioblastoma. Your doctor may recommend:

• CT scan: Hemangioblastomas have both solid and cystic components. Non-contrast CT scans can help identify fluid density surrounding the cyst. CT scans are also useful for showing cystic lesions scattered throughout the body, such as in the pancreas and kidneys, in screening for VHL-associated tumors.
• MRI: Using MRIs is the best way to visualize both solid and cystic components of hemangioblastoma tumors.
• Angiogram: This test, which uses X-ray contrast to view blood vessels, can help show the blood vessels that are connected to the tumor.
• Ultrasound: Ultrasounds are low-cost and often used first to help detect the presence of a hemangioblastoma in a hospital or outpatient clinic. 
  

Differential Diagnosis

Many conditions cause symptoms similar to hemangioblastomas. Moreover, hemangioblastomas are rare, which is why they can be easily missed. Having a doctor who has good reason to suspect the condition and knows what to look for on MRI and CT scan images is central to getting an accurate diagnosis. Some conditions mimic hemangioblastomas, such as:

• Brain cancer: Metastatic tumors in the brain may present with similar symptoms as a hemangioblastoma. Types of brain cancer that may be considered in a diagnosis may include astrocytoma, ependymoma, and medulloblastoma.
• Vascular lesions such as arteriovenous malformation (AVM): This is a condition in which arteries and veins are connected to each other in an abnormal way.
  

A Word From Verywell

Hemangioblastomas are usually slow growing and may not cause life-threatening symptoms, but this doesn't mean that you should ignore them. Getting an early diagnosis means you have more time to make a decision on how you want to proceed.

Seeing a doctor regularly is the best way to track your symptoms and the growth of hemangioblastoma tumors. If you experience a sudden change in your symptoms or new symptoms like changes in your vision, balance, and coordination, or headaches, seek immediate medical attention.