Haemangioblastomas are rare tumours that develop in the lining of blood vessels in the body. They most commonly develop in the central nervous system (CNS), which is composed of the brain and spinal cord, however they can also develop in other areas of the body, such as the kidneys, liver, and pancreas. While haemangioblastomas are generally benign (non-cancerous), in rare cases they may become malignant (cancerous).

The brain is a complex organ that is responsible for controlling all functions of the body. It has five main portions: the cerebrum, cerebellum, brainstem, pituitary gland, and hypothalamus. The cerebrum is the biggest part of the brain, and consists of the frontal, parietal, temporal, and occipital lobes. This part of the brain is responsible for voluntary movement, intelligence, and memory, and is often where glioblastomas develop. The cerebellum is a small part of the brain located at the back of the head, and regulates posture and balance. The brainstem is a small, stalk-like structure towards the bottom of the brain that connects the brain to the spinal cord.  It regulates many vital bodily processes, such as swallowing, breathing, and heart rate. The pituitary gland is a pea sized organ located behind the eyes, and is responsible for the production and secretion of hormones in the body. The hypothalamus is located deep within the brain, and has many important functions, such as producing and secreting different hormones, regulating temperature, and controlling appetite. 

The spinal cord is a long, thin, tubular structure that extends down from the brainstem to the lower back. It is made of nerve tissue, and is surrounded by the bones of the spine (vertebrae). The spinal cord is responsible for transmitting nerve signals from the brain to the body, and vice versa. It has motor functions (such as voluntary movement), sensory functions (such as pressure, touch, temperature, and pain), and autonomous functions (such as regulating digestion, heart rate, and blood pressure). 

Haemangioblastomas are often associated with Von Hippel-Lindau (VHL) syndrome, which is a rare genetic disorder that causes the development of multiple benign (non-cancerous) and malignant (cancerous) tumour throughout the body. For more information on VHL, please refer to the Rare Cancers Australia Von Hippel-Lindau page.

Haemangioblastomas are slightly more common in males, and tend to develop between the ages of 30-60. However, anyone can develop this disease.  

Treatment 

When cancers are detected, they are staged and graded based on size, metastasis (whether the cancer has spread to other parts of the body), and how the cancer cells look under the microscope. Staging and grading helps your doctors determine the best treatment for you. However, as the haemangioblastomas are considered benign, these tumours are generally considered low-grade and not staged. 

Once your tumour has been diagnosed, your doctor may recommend genetic testing, which analyses your tumour DNA and can help determine which treatment has the greatest chance of success. They will then discuss the most appropriate treatment option for you.

Treatment is dependent on several factors, including location, age, stage of disease and overall health.

Treatment options for haemangioblastomas may include:

• Watch and wait.
• Surgery to remove as much of the tumour as possible.
• Radiation therapy.
• Antiangiogenic therapy (medication that helps prevent tumours from developing their own blood vessels).
• Clinical trials.
• Palliative care.

For more information on the treatment options, please refer to the Rare Cancers Australia treatment options page. 

Risk factors 

Because of how rare haemangioblastomas are, there has been limited research done into the risk factors of this disease. However, there has been a definitive link between the development of haemangioblastomas and patients who have been diagnosed with VHL. 

Early symptoms 

Haemangioblastomas may appear asymptomatic during the early stages of disease. As the tumour progresses, some of the following symptoms may appear:

• Hydrocephalus (fluid-build up in the brain), which carries its own set of symptoms:
  • Headaches.
  • Nausea and/or vomiting.
  • Difficulties with eye movement.
  • Difficulties with balance.
  • Difficulties with walking.
• Polycythaemia/erythrocytosis (high red blood cell concentration in the blood), which carries its own set of symptoms:
  • Headaches.
  • Blurred vision.
  • Red skin (especially in the face, hands, and feet).
  • Fatigue.
  • High blood pressure.
  • Dizziness.
  • Abdominal discomfort and/or pain.
  • Confusion.
  • Bleeding problems, including nosebleeds and bruising.
  • Gout.
  • Itchy skin.
• Difficulties with movement.
• Back pain.
• Numbness and/or tingling in the extremities.
• Incontinence (loss of bladder control).

Patients with VHL may experience additional symptoms depending on the tumours present.

Not everyone with the symptoms above will have cancer, but see your general practitioner (GP) if you are concerned. 

Diagnosis/diagnosing 

If your doctor suspects you have haemangioblastoma, they may order the following tests to confirm the diagnosis and refer you to a specialist for treatment.

Physical examination

Your doctor will collect your overall medical history, as well as your current symptoms. Following this, they may examine your body to check for any abnormalities.

Genetic testing

In addition to guiding treatment, genetic testing can be used to help diagnose certain conditions. Haemangioblastoma has been linked to mutations in the VHL gene, which changes specific protein functions. These changes can lead to cell abnormalities and, in extreme cases, cancer. Your doctor may perform genetic testing to better understand your condition.

Neurological examination

A neurological examination assesses sensory and motor functions, and can generally be done in your GPs office. The doctor may check your vision, hearing, balance, coordination, strength, and reflexes, depending on the signs and symptoms you have described. Any problem that is detected in this exam can help determine which portion of the CNS needs further investigation.

Imaging & Blood tests

The doctor will take images of your body using magnetic resonance imaging (MRI), a computed tomography scan (CT scan), x-rays, bone scan and/or positron emission tomography (PET scan), depending on where it is suspected the cancer is. The doctor may also look at other parts of the body and look for signs of metastasis. Additionally, a blood test may be taken to assess your overall health and help guide treatment decisions.

Biopsy

Once the location of the cancer has been identified, the doctor will perform a biopsy to remove a section of tissue using a needle. This tissue will then be sent to the lab and analysed for cancer cells. 

Prognosis (Certain factors affect the prognosis and treatment options) 

While it is not possible to predict the exact course of the disease, your doctor may be able to give you a general idea based on the rate and depth of tumour growth, susceptibility to treatment, age, overall fitness, and medical history. Generally, haemangioblastomas have a good prognosis and survival rates. However, if the tumour has become malignant and/or has spread, the prognosis may not be as good, and there may be a higher risk of recurrence. It is very important to discuss your individual circumstances with your doctor to better understand your prognosis.

References 

• Cancer Research UK
• Pathology Outlines
• Radiopaedia
• UpToDate

^{Some references are to overseas websites. There may be references to drugs and clinical trials that are not available here in Australia.}