Comprehensive Guide to Cavernous Hemangioma : Causes, Diagnosis, and Treatment Strategies

A collection of malformed blood vessels results in formation of a mass, which is known as cavernous hemangioma. This is a congenital condition and it is also referred to as cavernous malformation; cavernous angioma and cavernoma.

Vascular malformations are masses that develop as a result of clusters of abnormal blood vessels. These are thought to develop in around 1% of individuals from birth.⁽¹⁾ These vascular malformations can be classified further according to their specific characteristics.

Cavernous malformations are a specific form of vascular malformations which are formed of broad blood vessels which form caverns via which the flow of the blood is very slow. They look like a raspberry and are non-malignant with no apparent potential towards becoming malignant.⁽²⁾

Common Location of Cavernous Hemangioma: Cavernous malformations commonly develop in the brain; however, can also develop in other regions such as: skin, spinal cord, retina, adrenal glands, liver and gastrointestinal tract.

Size and Number of Cavernous Hemangioma: Cavernous malformations can alter in quantity and size with time and can vary from several millimeters to several centimeters in size.

Other than vascular malformations being present from birth, they also can develop during the life. The two types of cavernous malformations are sporadic and familial. Familial malformations develop after an abnormal gene gets inherited from either of the parents. Sporadic malformations occur without having an inherited gene. Around 80% of people develop the sporadic form of this disease.⁽³⁾

Familial Cavernous Malformation: Patients having a family history or having multiple malformations are hereditary in nature and occur because of mutations in any of the following genes: CCM1 (KRIT1), CCM2 and CCM3 (PDCD10). These are dominant genes, so there is about 50% chance of getting one of these genes if either of the parents has it.

New Mexico boasts of an exceptionally high number of people having cavernous malformations. This reason behind this is the original Spanish settlers in this part of the world have passed the CCM1 gene for a minimum of 14 generations.

Sporadic Cavernous Malformation: People having only single malformation tend to have the sporadic type of this condition. This is thought to occur as a result of acquired genetic changes particularly in the cells of the affected blood vessels and is not thought to be hereditary. Cavernous malformations have also been associated with brain radiation therapy in children.

About 40% of individuals, which is less than half, having cavernous malformations in their brains do not get diagnosed or have any kind of symptoms. The individuals in this group have: no family history; only a single malformation and are without any inherited mutation.

Individuals having family history are likely to develop many malformations and tend to experience symptoms also.

The symptoms of Cavernous Hemangioma differ depending on the site of the malformation, which are described in detail below:

Cavernous Hemangioma in Brain:  One of the most common symptoms of cavernous malformations in the brain are seizures with other symptoms, such as: bleeding, headaches, hemorrhagic stroke, double vision, slurred speech, tremor, balance problems, memory problems, difficulty in concentration and limb numbness/weakness.

Cavernous Hemangioma in Eye: The symptoms of this malformation that forms in the eye are: double vision; drooping eyelids; pain in the eye and problems with vision due to optic nerve compression. These symptoms are often reversible after the hemangioma is removed surgically.

Cavernous Hemangioma in Spinal Cord:  The symptoms of cavernous malformation or cavernous hemangioma in the spinal cord can result in the limb: weakness, numbness, paralysis, tingling and itching. There can also be loss of bowel or bladder control.

Majority of the patients do not experience any complications; but if the vascular malformation in the brain starts to bleed, then it can produce neurological symptoms. The complications depend on the part of the brain which is affected. Cortex, which is the outer layer of the brain, is a common place for development of cavernous malformations. They can also develop in regions that are responsible for subconscious functions, such as the brainstem or cerebellum. Bleeding in them can cause hemorrhagic stroke which can be fatal.

Cavernous malformations developed along the spine causes neurological symptoms due to spinal compression. Vision loss occurs as a result of their formation in the eye. The development of cavernous malformations in the eye is lesser than 1% of people having brain cavernous hemangioma.⁽⁴⁾

The diagnosis of cavernous malformation can be made via imaging or by doing an autopsy. Magnetic resonance imaging (MRI) is the common tool for diagnosing this condition. Unless there has been bleeding from the malformation, it cannot be detected by angiography or computed tomography (CT) scan.

People having a family history of this condition are recommended to get genetic testing done. Children comprise of around 25% of patients who have been diagnosed with cavernous malformations.

Treatment of Cavernous Hemangioma can be done with medications for specific symptoms, such as headaches or seizures. Surgery is done in case of bleeding. Surgery is also done to remove the cavernous malformation in the brain where a traditional craniotomy is done to remove a part of the skull to access the brain. Radio-surgery also can be an option for people having only one malformation, which cannot be treated with traditional surgery; however, this is a controversial choice, as it consists of extremely focused radiation beams.

According to a study from 2020,⁽⁵⁾ the researchers found that about 50% of a group having 12 children with multiple malformations and bleeding in their brains needed additional surgery within two and a half years. 2.5 years. Only nine participants in this study who did not have either of these risk factors did not need any additional surgery.

Surgery is also recommended to remove a cavernous malformation from other areas like spinal cord or eye, if problems are occurring.

Majority of the patients having cavernous malformations in their brains do not experience any symptoms and the prognosis is generally favorable.⁽⁶⁾ Symptoms tend to develop in patients having bigger or multiple malformations.

The prognosis in patients having malformations in other areas also is mostly good. Surgically re-secting or removing the malformation from spinal cord is also a good outcome; however, in some patients, complete recovery cannot be achieved.⁽⁷⁾

The symptoms occurring in patients having eye cavernous malformation are mostly reversible after surgery.⁽⁸⁾

It is not clear on how and if cavernous malformations can be prevented, as they are thought to develop due to inherited genes from the parents or due to the genetic changes occurring throughout the life. The cause of these changes is still not clear and studies are going on to understand it better.

Most of them are not life threatening; only a few of these cavernous malformations can be life threatening. Stroke can occur as a result of bleeding in the brain, which in turn can result in permanent disability or death.

The term “cavernoma” or “cavernous hemangioma” is no longer used by The ISSVA as these malformations are not tumors and the suffix “-oma” means “tumor.”⁽⁹⁾

Cavernous malformations developing in the eye or retina don’t cause symptoms usually. However, loss of vision can occur if there are macular malformations, as macula is the part of the retina that is responsible for the central vision.

A cavernous malformation or cavernous hemangioma is a mass resembling raspberry and is made of abnormal blood vessels and commonly develops in the brain. Many of the patients having this tend not to develop any symptoms. Symptoms which can occur like headaches and seizures can be treated or managed with medications. Surgery is also recommended to remove the malformation if it is causing profound symptoms.

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