What are Cavernous Malformations?
A cavernous malformation is a rare type of vascular condition characterised by clusters of tiny blood vessels or capillaries in the brain that is irregular and enlarged in structure. These capillaries can vary in size from 2 millimetres to 10 centimetres in diameter and have abnormally thin walls that lack other supportive tissues, like elastic fibres, which typically makes them stretchy. As a result, the capillaries are susceptible to leakage, which can trigger serious health issues related to this condition.
The number and location of the cavernous malformations will determine the severity of this condition, and these malformations can change in number and size over time. The condition can occur anywhere in the body but is only life-threatening when it occurs in the brain and the spinal cord. Cavernous malformations are also known by several other names such as cerebral cavernous malformations, cavernomas, cavernous angiomas, and cavernous hemangiomas. Most cases of cavernous malformations are congenital in origin (present at birth).
Signs and Symptoms of Cavernous Malformations
Around twenty-five per cent of people with cavernous malformations does not experience any related health issues. Other individuals with this disorder may experience significant signs and symptoms such as:
- Cerebral haemorrhage
- Vision or hearing problems
- Balance problems
- Attention and memory issues
- Weakness in the arms or legs
Causes of Cavernous Malformations
It is unknown what exactly causes cavernous malformations. However, there are 2 forms of cavernous malformations: sporadic and familial. Mutations in at least 3 genes, CCM1, CCM2, and CCM3, are believed to cause familial cavernous malformations and account for 85 to 95 per cent of all cases of the familial form. The familial form is passed from a parent to the child and the affected patients have multiple cavernous malformations. Sporadic form occurs in people with no familial history of the condition and the affected patients usually have only one malformation with few or no symptoms.
Diagnosis of Cavernous Malformations
In order to correctly locate and diagnose cavernous malformations, imaging studies such as magnetic resonance imaging (MRI) and computed tomography (CT) may be utilised to obtain two- or three-dimensional pictures of the brain. In most cases, these tests alone are good enough to spot the presence of cavernomas and any bleeding that may have occurred in the brain. Other potential diagnostic and imaging tests that your physician might recommend include:
- Genetic testing
- Blood tests
Treatment of Cavernous Malformations
The mode of treatment employed for cavernous malformation depends upon the severity of the condition and may involve the following:
- Observation: If you have been diagnosed with cavernous malformations, but not experiencing any symptoms, your physician may recommend monitoring the malformations over a period of time with regular imaging scans such as an MRI or CT scans.
- Medications: If the cavernous malformations are causing symptoms such as seizure, your physician may prescribe anti-epileptic medications to control your seizures or other related symptoms.
- Surgery: Surgical intervention is recommended for removal of the cavernous malformation if:
- The seizures are not responding to medications
- The malformations are causing other neurological symptoms
- The symptom causing malformation is located in a surgically accessible part of the brain
- The malformation is growing and exhibits a high risk for bleeding in the brain
Prevention of Cavernous Malformations
Cavernous malformations cannot be prevented and approximately 1 in 4 cases of malformations are inherited. Hence, prenatal genetic counselling and testing are good options for a first person in a family diagnosed with multiple cavernous malformations or for relatives of those with established familial cavernous malformations.