Cavernous malformations are better described as a collection of abnormal blood vessels. This can mean that they are abnormal in number or in structure. This condition can lead to an altered blood flow pattern. These abnormal blood vessels are not cancerous, but are a concern.
It was originally thought that these abnormal clusters of blood vessels were present at birth. However, it was later found that these clusters develop over a period of years. They are not congenital, or passed down through birth. They are a direct result of trauma, radiation exposure or direct damage to the spinal cord.
Doctors usually classify this disorder by the number, size, location, and type of change that is made by the abnormal blood vessels. The reason they are a concern is that blood flows through them extremely slowly, which allows it to clot. These vessels also tend to leak because they are attached through improper junctions.
People who have cavernous malformations that are considered cerebral, can develop a wide variety of symptoms.
The symptoms of this disorder may come and go over time. They may also come and go as the veins leak and seal themselves.
There are two ways of contracting cavernous malformations. One either has sporadic cavernous malformations, which means the individual has contracted the condition separate from any hereditary links, or the condition has been passed down through the genes. In that case, a genetic mutation has occurred in one of the CCM1, CCM2, or CCM3 genes. When one of these genes becomes affected, it causes blood vessels in the brain to become malformed and cause the onset of cavernous malformations.
Heredity accounts for 20% of cavernous malformations and individuals born with the defective CCM gene have a 50% chance of passing the illness to a child.
Researchers have found that individuals with sporadic cavernous malformations have also contracted the disease through genetic abnormalities, though there is no family history of the illness. In these cases, genetic mutations only occur within the blood vessels of the sporadic CCM lesion and are not passed on to children conceived by a parent who experienced this condition.
There is currently no treatment for cavernous malformations. Usually, patients are observed until they develop symptoms. The symptoms are then managed through medication and possible surgery. Surgery is usually minimally-invasive, but can lead to a more invasive surgery if the location of the malformations are in a location that is not easily reached. Your doctor will carefully weigh the risk of your current condition with the risk of surgery before proceeding.
People of all age groups can be at risk for developing this condition. After surgery, many patients recover quickly. However, those who suffered from a neurological deficit because of the pre-surgical condition may require a longer period of time in physical rehabilitation in order to completely regain the lost function.
Currently, prevention isn’t possible, but researchers are continuing to study the illness with the hope of developing prevention methods in the future. Discovering more details about how these genes mutate may help lead to treatments that could repair the genes, before cavernous malformations form.
In cases where an individual is the first in the family known to have developed multiple cavernous malformations, counselling and prenatal counselling is recommended to identify the risk of passing the illness on to a child. Similar recommendations exist for those who have identified the existence of familial cavernous malformations and wish to have children.
In cases where seizures, weakness in the limbs or problems with vision, balance, memory, or attention span occurs, the individual should see a doctor as soon as possible. These early warning signs may help treat a cavernous malformation, before it becomes a larger problem.