What is cavernoma?

A cavernoma is made up of abnormal blood vessels and can be found in the brain and/or spinal cord and looks like a raspberry. Cavernomas are also known as cavernous angioma, cavernous haemangioma or cerebral cavernous malformation (CCM). They can measure from a few millimetres to several centimetres. A cavernoma can get bigger, but this engorgement is not cancerous, and does not spread to other parts of the body.

For more information on spinal cord cavernoma, click here.

Sometimes the cells lining the blood vessels ooze small amounts of blood (inwards) within the cavernoma, or (outwards) into surrounding tissue. The risk of re-bleeding varies widely and is difficult to predict accurately.

Cavernomas are said to resemble raspberries (Pictured)

Cavernomas are said to resemble raspberries

 Frequency

1 person in 600, in the UK, has a brain cavernoma without symptoms (asymptomatic). This equates to roughly 90,000 people – enough to fill Wembley Stadium. A spinal cavernoma is rarer than a brain cavernoma.

People who experience symptoms are considered to have a rare condition. An ongoing study based on the entire population of Scotland, found that each year, 1 person out of 400,000 is diagnosed with a symptomatic brain cavernoma.

A minority of cavernoma (less than 50%) are thought to be a genetic form and genetic testing can be used to determine whether the cavernoma has a genetic cause or is likely to be random.

Symptoms and diagnosis

Cavernoma are often diagnosed after a person has experienced symptoms which can include:-

  • haemorrhages
  • seizures
  • headaches
  • neurological deficits such as dizziness, slurred speech, double vision and tremors
  • weakness, numbness, tiredness, memory and concentration difficulties.
MRI scan showing a cavernoma located in the brainstem

MRI scan showing a cavernoma located in the brainstem

The type, severity, combination and duration of symptoms vary, depending on the location of the cavernoma. Single or multiple cavernomas near the surface of the ‘hemispheres’ or ‘lobes’ in the brain can cause epileptic seizures. Symptoms may occur after a ‘bleed’ but this is not true in every case. MRI scans are the most reliable diagnostic tool available to determine the presence of cavernoma.  It is important, however, that specific scan sequences are used: “T2-weighted” and “gradient echo” (also known as T2-star).

Other diagnostic tools include CT scans and angiography but they cannot be relied upon to show a cavernoma.

Some cavernoma are diagnosed after investigation into other symptoms not definitively linked to cavernoma. These are known as ‘incidental’ cavernoma.

Treatment and management of cavernoma

While people with cavernoma have things in common, each person remains unique. This should be taken into account for each individual who may require both lifelong support and medical attention. Because cavernoma symptoms can vary widely from person to person, depending on location, number/ size, effective treatment options can vary also. Specific medical advice can only be given by a neurologist or a neurosurgeon.

There is no standardised treatment protocol for cavernoma as historically relatively little has been known about the condition. CAUK administered a Priority Settings Partnership project in collaboration with the James Lind Alliance. This research project consulted medical professionals and people affected by cavernoma in order to establish the treatment uncertainties. The information gathered will help inform future research into the treatment and management of cavernoma.

Certain medications can be prescribed to help control symptoms such as epilepsy and pain. In some case, neurosurgeons might recommend surgery to remove the cavernoma. Some locations and positioning of cavernomas might make removal unfeasible however. Treatment options also include ‘stereotactic radiosurgery’ which is a single concentrated dose of radiation therapy. Gamma Knife and CyberKnife are a non-invasive type of stereotactic radiosurgery. It is unknown how well either single or multiple cavernomas respond to this form of treatment. A ‘wait-and-watch’ approach may be recommended and this can include periodic MRI scans to monitor the cavernoma(s). Genetic counselling may be available for some individuals and their families to determine if there is a genetic cause.

If you have an appointment to see a neurologist about your cavernoma it can sometimes be difficult to remember the questions you wanted to ask or know what questions to ask! Some people find it useful to download this list of questions to take along with them to the appointment.

Information booklets

CAUK has produced a Public Information Leaflet and three information booklets you can download below to help people learn about, understand and cope with the condition. Written by a leading neurologist, the symptomatic and incidental booklets describe cavernoma, their frequency, symptoms, how the condition is investigated, as well as surgical and non-surgical interventions. In addition to this material, the genetics booklet also discusses the genetic implications for those who may inherit the condition. Click on the images below for a PDF.

We also have information for children and families of children affected by cavernoma here.

Further information

We have a video library (you must be a member to access this [membership is free, you can signup here]) of medical experts and members speaking about various aspects of cavernoma. We also have a list of useful links to other organisations people affected by cavernoma might find useful.

Preimplantation Genetic Diagnosis (PGD), Prenatal Testing and cavernoma

The following information article on Cavernoma and Prenatal Testing and cavernoma are about genetic diagnostic tests of reproduction that are available to women and couples when there is a serious risk that their child will inherit genes associated with cavernoma.

Information on Preimplantation Genetic Diagnosis (PGD) and Cavernoma: this leaflet is being updated. If you would like information about PGD and cavernoma at this time, please contact CAUK member Pat Spallone by email on pmspallone@gmal.com. For general information about PGD go to http://www.hfea.gov.uk/preimplantation-genetic-diagnosis.html

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