Overview of Hemangioblastoma

Hemangioblastomas are rare, non-cancerous (benign) tumors that develop in the brain and spinal cord, and consist of a collection of abnormal blood vessels. While they grow slow and are non-cancerous, the location in which they develop can sometimes cause significant neurological symptoms if they invade critical structures.

In the brain, hemangioblastomas are frequently found in the cerebellum, the part of the brain responsible for balance and coordination. In the spinal cord, they tend to occur more frequently in the cervical (neck) and thoracic (upper back) regions.

While less common, hemangioblastomas can develop in other areas, including the cerebral hemispheres or along the cranial nerves. Individuals with von Hippel-Lindau (VHL) disease are at a higher risk of developing hemangioblastomas, but most cases occur randomly (sporadically), without any known triggers.

This article will explore the causes, symptoms, and methods for diagnosing hemangioblastoma. We will touch on treatment for hemangioblastoma and what it is like to live with this highly variable condition. 

The exact cause of most hemangioblastomas remains unknown, but around 20-30% of cases are associated with a condition called von Hippel-Lindau (VHL) disease. VHL is a rare genetic disorder that increases the likelihood of tumor development by affecting the body’s ability to regulate cell growth.

People with VHL disease inherit mutations in the VHL gene which heightens their risk of developing various types of tumors, including hemangioblastomas.

For individuals living with VHL disease, routine screening is critical for early detection and intervention, as this can greatly improve outcomes and quality of life.

There are no environmental or lifestyle factors known to increase the risk of developing hemangioblastomas.

For all of individuals affected by hemangioblastomas, early intervention and proactive management can make a meaningful difference in improved quality of life.

Hemangioblastomas can cause symptoms that vary greatly between patients depending on where the tumor is located, how large it is, and how quickly it may be growing. Everyone’s experiences will be unique, so understanding these changes is an important part of identifying the treatment plan best suited to your needs.

• Headaches: A common symptom due to increased pressure in the skull. These can be localized or generalized and may worsen over time.
• Nausea and Vomiting: Increased brain pressure can cause nausea and vomiting.
• Visual Disturbances: Tumors near the optic pathways of the brain can lead to blurred vision, double vision, or partial/complete blindness in one or both eyes.
• Muscle Weakness: If motor pathways in the brain or spinal cord are affected, weakness or paralysis can develop, which may affect one side of the body (hemiparesis) or specific muscle groups.
• Sensory Deficits: Tumors involving sensory pathways may lead to numbness, tingling, or loss of sensation. These deficits can affect one or both sides of the body.
• Coordination Difficulties: Hemangioblastomas in the cerebellum can disrupt coordination and balance, resulting in clumsiness, unsteady gait (ataxia), and difficulty with fine motor tasks.
• Dizziness and Vertigo: Tumors affecting the vestibular system can cause dizziness, vertigo, or loss of balance, especially with head movements.
• Bowel or Bladder Dysfunction: In the spinal cord, tumors can compress nerves controlling bowel and bladder function, leading to urinary retention, incontinence, or constipation.
• Radicular Pain: Spinal hemangioblastomas may cause shooting pain, numbness, or tingling along the path of a specific nerve root.

It's important to remember symptoms can vary widely between individuals, and not everyone will experience the same symptoms or severity. When these tumors present in the cerebral  hemispheres (upper part of the brain), this can sometimes lead to cognitive changes, such as speech and mood disturbances.

For others, these tumors may not cause any symptoms and are discovered by chance during tests for other reasons. The earlier these tumors are recognized and diagnosed, the better doctors can provide timely care and effectively manage the associated symptoms.

Hemangioblastomas are diagnosed using a combination of clinical evaluation, neuroimaging, and histopathological (tissue biopsy) examination. This involves working closely with your healthcare team to better understand your symptoms and how best to care for you.

Diagnosis begins with a detailed medical history and physical exam. Your doctor will inquire about symptoms such as headaches, neurological deficits, or visual disturbances. A family history of VHL disease or other hereditary conditions will be considered.

Magnetic resonance imaging (MRI) is the preferred method for evaluating tumors of the brain and spinal cord.  MRIs provide detailed images allowing physicians to visualize the size and location of tumors. An MRI with contrast can highlight the tumor’s blood supply.

Surgeons may remove some or all of the tumor for viewing under a microscope for diagnostic confirmation.

If VHL disease is suspected, genetic testing may be recommended. Test results can identify potential mutations in the VHL gene, guiding treatment decisions and family counseling.

Diagnosing hemangioblastomas requires a comprehensive and thoughtful approach that includes detailed clinical evaluation, imaging tests, and sometimes a biopsy (tissue sampling) to better understand the tumor. For individuals who may have a genetic condition, like VHL disease, genetic tests can provide valuable insights.

Each step is carefully selected to ensure patients receive the most accurate diagnosis and compassionate care moving forward. By detecting these tumors earlier, doctors can offer targeted treatments which can make a meaningful difference in the quality of life in patients.

Treating hemangioblastomas involves working closely with your medical team to decide the best approach based on your unique situation. Some tumors can managed through observation if they are not causing severe symptoms or growing quickly.

Other patients will be recommended surgery to remove the tumor and improve their quality of life if their symptoms are interfering with their daily activities.

If your tumor is causing symptoms or negatively impacting your quality of life, your healthcare team might recommend surgery to remove it. Surgeons will resect the tumor tissue while aiming to preserve surrounding healthy tissue to avoid complications.

This is a non-invasive procedure that can be utilized particularly when tumors are present in difficult to reach areas. Doctors will use highly focused radiation to shrink or stop the tumor from growing any further.

This option is suitable for tumors that are not causing symptoms in patients or pressing on critical structures within the brain or spine. Patients will need to attend regularly scheduled check-ups to monitor and track any changes in the tumor over time.

Rehabilitation may be recommended after surgery to help individuals regain strength, coordination, and mobility if the tumor has affected one’s physicial abilities. Personalized plans help patients reduce symptoms and improve quality of life following treatment.

The outcomes for patients with hemangioblastomas are generally positive, especially when the tumor is found early and treated appropriately. These tumors are typically benign, meaning they do not spread to other parts of the body.

Individual life expectancies are typically unaffected and symptoms resolve after the tumor is successfully removed. Many cases allow for a full recovery and return to normal activities.

It is important to have open and honest conversations with your care team to know what to expect. Patients and their families must work together to identify how best to treat your condition.

In cases where the underlying cause of the tumor is due to VHL disease, treatment outcomes and life expectancy can vary depending on numerous factors. These can include the size and number of tumors, as well as other health conditions related to VHL disease.

Patients living with this disease benefit greatly from regular monitoring and proactive management of lesions. With the appropriate care, many individuals with VHL disease can live well into adulthood, with recent studies showing average life expectancies ranging from 60-67 years.

Ongoing research into the underlying mechanisms and of this disorder has greatly improved life expectancy in recent years, offering hope for longer and healthier lives in the future.

Living with hemangioblastomas can present unique challenges to those diagnosed and their caregivers. Many patients are fortunate to experience positive outcomes following treatment.

However, continuous monitoring is often necessary to ensure no new tumors develop or existing ones have not grown. This uncertainty can lead to feelings of anxiety or worry, making emotional support equally as necessary as physical care.

The responsibilities caregivers take on can be both rewarding and demanding. These individuals play a crucial role in helping patients manage their daily activities and appointment schedules.

Prioritizing one’s own self-care is essential to remaining healthy and able to continue providing compassionate support. This is especially true in instances where the patient’s symptoms are more debilitating and inhibit them from performing activities of daily living independently.

Available resources can be a key component of someone’s care plan, such as support groups, patient advocacy organizations, and educational materials provided by their care team. These can offer practical support while also recognizing the importance of connections with others facing similar health journeys.

Living with and managing hemangioblastomas is not something that needs to be faced alone. Building a network of medical, social, and emotional support can help individuals maintain their quality of life as they navigate these unfamiliar challenges together.

• Hemangioblastomas are noncancerous tumors that originate from blood vessels in the brain and spinal cord.
• While most hemangioblastomas arise randomly, 20 – 30% are associated with a genetic condition known as von Hippel-Lindau syndrome.
• Symptoms can range from headaches and dizziness to more severe symptoms, depending on the tumor's size and location. MRIs, biopsies, and genetic testing help the care team make accurate diagnoses.
• Early detection and treatment are essential for managing symptoms and preserving quality of life

• National Institutes of Health (NIH): Hemangioblastoma
• Cancer Research UK: Hemangioblastoma
• American Brain Tumor Association (ABTA): Hemangioma
• VHL Alliance