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 benignnot cancerous, can grow but will not spread to other body parts, in rare cases they may become malignant.
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 and malignant 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, 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 testinga procedure that analyses DNA to identify changes in genes, chromosomes and proteins, which can be used to analyse tumour DNA to help determine which treatment has the greatest chance of success, 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 waitthe close monitoring of a cancer without giving treatment until symptoms appear or worsen.
- Surgery to remove as much of the tumour as possible.
- Radiation therapya treatment that uses controlled doses of radiation to damage or kill cancer cells.
- Antiangiogenic therapytreatment in the form of a medication that helps prevent tumours from developing their own blood vessels.
- Clinical trialsresearch studies performed to test new treatments, tests or procedures and evaluate their effectiveness on various diseases.
- Palliative carea variety of practices and exercises used to provide pain relief and improve quality of life without curing the disease.
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.
Symptoms
Haemangioblastomas may appear asymptomatic during the early stages of disease. As the tumour progresses, some of the following symptoms may appear:
- Hydrocephalusa build up of cerebrospinal fluid (CSF) in the brain, causing pressure and potentially damaging brain tissue, 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.
- Hypertensionhigh 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.
- Urinary incontinence.
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
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 examinationan examination of your current symptoms, affected area(s) and overall medical history.
- Neurological examinationan assessment of sensory and motor functions, such as vision, balance and coordination.
- Imaging tests, potentially including:
- MRI (magnetic resonance imaging)a type of medical imaging that uses radiowaves, a strong magnet and computer technology to create detailed images of the body.
- CT (computed tomography) scana type of medical imaging that uses x-rays and computer technology to create detailed images of the body.
- Blood teststesting done to measure the levels of certain substances in the blood.
- Biopsyremoval of a section of tissue to analyse for cancer cells.
