During June, Cavernoma Awareness Month has been shining a spotlight on a rare brain condition. Here’s why more research and investment is vital for better care.
During June, Cavernoma Awareness Month has been shining a spotlight on a brain condition that is rare. However, it’s estimated that one in every 600 people in the UK has a cavernoma that doesn’t cause symptoms, and every year about 160 people are diagnosed with symptomatic cavernoma.
Many people have never heard of the condition until they, or someone close to them, is diagnosed with it. This can make the shock of a serious health condition even more difficult and distressing to deal with. In fact, awareness of the condition in the medical community was limited until the development of Magnetic Resonance Imaging (MRI) in the 1980s.
This means that the causes, symptoms and treatment pathways for cavernoma are only just beginning to be widely understood. Over the past four decades, patient groups and healthcare organisations have worked together to create a global knowledge sharing community, and advance research and care of this rare condition.
Cavernoma, also known as cerebral cavernous malformation (CCM), involves clusters of abnormal blood vessels in the brain or spinal cord. It’s not a tumour and is not cancerous, although it can grow bigger over time. One of the major risks of growing cavernomas is blood leakage (haemorrhage) from the weak malformed vessels.
Other serious symptoms of a cavernoma include seizures and neurological defects such as vision disturbances, dizziness, memory and concentration difficulties, and limb weakness. Patients may also experience frequent headaches. The type and severity of the symptoms depend on where the cavernoma is located, and if it is pressing on other parts of the brain.
The causes of cavernoma are not fully understood, but in about 20 per cent of cases it is a hereditary condition that can be caused by a genetic mutation. This most often results in multiple cavernomas forming. Non-hereditary cavernomas are more likely to occur singly, and appear to form by chance.
Being diagnosed with a cavernoma can sometimes be a long and frustrating journey. Lack of awareness of the condition both among the public and clinicians and symptoms that mimic other conditions can mean that it’s often misdiagnosed. Even after a correct diagnosis, patients can feel isolated, and the treatment pathway can seem complex and daunting.
Coping with life-disrupting symptoms such as seizures, limb weakness and memory loss can be stressful, and patients may not know how to access support and advice. Because it’s a rare condition, GPs and even some neurological specialists may not have much experience of managing them.
In common with many brain conditions, cavernoma has historically been under-researched and underfunded. There have only been a limited number of large-scale clinical studies and not a great deal of pharmaceutical investment. This means that the treatment options are currently limited and there are disparities in patient access to the best treatment.
Greater visibility of the condition through initiatives such as Cavernoma Awareness Month brings the potential for increased research funding, faster diagnosis times, more effective treatments, and stronger patient support networks.
Not all cavernomas require direct treatment, but are actively monitored for signs of change with regular MRI scans. If the patient is experiencing seizures, these may be treated with epilepsy medication. Headaches can be managed with painkillers.
However, if the cavernoma is causing bleeds or pressing on an important area of the brain, then surgical removal may be necessary. Traditionally, open surgery has been used to remove cavernomas that are in an accessible area of the brain. However, this carries significant risks and can lead to further complications.
Stereotactic radiosurgery (SRS) involves directing multiple beams of radiation at the cavernoma from different angles to destroy the damaged blood vessels. One of the most accurate and effective forms of SRS is Gamma Knife surgery. This may be considered as a treatment option when open surgery is deemed too risky.
One of the advantages of Gamma Knife treatment is that it can usually be delivered in a single session, and the patient can go home on the same day. It does not involve making any incisions, and no anaesthetic is required, so recovery times are minimal.
Currently, there is still a lot of uncertainty around how best to treat cavernomas, or what the long-term outlook is for people who opt not to treat them. More research is needed into how cavernomas are formed and more clinical trials are needed to investigate the best treatments. That’s why the June awareness raising campaign is so important.
If you or a loved one has been diagnosed with cavernoma, learn more about how Gamma Knife surgery at Amethyst can help.
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