Cerebral Cavernous Hemangioma

Cavernous hemangioma, also called cavernous angioma, cavernoma, or cerebral cavernous malformation (CCM) (when referring to presence in the brain) is a type of blood vessel malformation or hemangioma, where a collection of dilated blood vessels form a lesion. Because of this malformation, blood flow through the cavities, or caverns, is slow. Additionally, the cells that form the vessels do not form the necessary junctions with surrounding cells. Also, the structural support from the smooth muscle is hindered, causing leakage into the surrounding tissue. It is the leakage of blood, known as a hemorrhage, from these vessels that causes a variety of symptoms known to be associated with this disease. Cavernous hemangioma, also called cavernous angioma, cavernoma, or cerebral cavernous malformation (CCM) (when referring to presence in the brain) is a type of blood vessel malformation or hemangioma, where a collection of dilated blood vessels form a lesion. Because of this malformation, blood flow through the cavities, or caverns, is slow. Additionally, the cells that form the vessels do not form the necessary junctions with surrounding cells. Also, the structural support from the smooth muscle is hindered, causing leakage into the surrounding tissue. It is the leakage of blood, known as a hemorrhage, from these vessels that causes a variety of symptoms known to be associated with this disease. Individuals with this condition may have symptoms such as seizures due to the compression of the brain tissue or hemorrhaging of angioma scarring surrounding tissue, an intraparenchymal hemorrhage, double vision or other vision problems, language difficulties, memory loss, and incidental hydrocephalus. Minor symptoms may include headaches, weakness or numbness in the arms or legs, and ataxia. When it occurs in the liver it is usually asymptomatic but may present as pain in the upper right abdomen, a feeling of fullness after eating only a small amount of food, lack of an appetite, nausea, and vomiting. In the eye, as the lesion changes in size it will involve the extraocular muscles and optic nerve, and patients report double vision , decreased vision, and progressive proptosis. Cavernous hemangiomas can arise nearly anywhere in the body where there are blood vessels. They are often described as raspberry-like structures because of the bubble-like caverns. Unlike the capillary hemangiomas, cavernous ones can be disfiguring and do not tend to regress. Most cases of cavernomas are thought to be congenital; however they can develop over the course of a lifetime. While there is no definitive cause, research shows that genetic mutations result in the onset. Congenital hemangiomas that appear on the skin are known as either vascular or red birthmarks. Familial cerebral cavernous malformations are known to occur. The mutations may be inherited in an autosomal dominant fashion or occur sporadically. Overall familial disease is responsible for one third to one half of cases. In the US approximately 50% of Hispanic patients with cerebral cavernous malformations have a familial form: in contrast in this occurs in only 10 to 20% of Caucasians. The reason for this difference is not presently known. Several genes – K-Rev interaction trapped 1 (ССМ1), Malcavernin (CCM2) and Programmed cell death protein 10 (ССМ3) – have been identified as having mutations thought to be related to these lesions. These genes are located at 7q21.2 (chromosome 7 long arm), 7p13 (chromosome 7 short arm) and 3q25.2-q27 (chromosome 3 long arm) respectively. These lesions are further discussed in the Online Mendelian Inheritance in Man site – the reference numbers are OMIM 116860, OMIM 603284 and OMIM 603285 respectively. Cavernous hemangiomas located on the brain are referred to as cerebral cavernomas or more usually as cerebral cavernous malformations (CCMs) and can be found in the white matter, but often abut the cerebral cortex. When they contact the cortex, they can represent a potential seizure focus for the patient. Unlike other cavernous hemangiomas, there is no tissue within the malformation and its borders are not encapsulated. Therefore, they can change in size and number over time. Cavernous hemangiomas are the most common benign tumors of the liver. Usually one tumor exists, but multiple lesions can occur in the left or right lobe of the liver in 40% of patients. Their sizes can range from a few millimeters to 20 centimetres. Those over 5 cm are often referred to as giant hemangiomas. In the eye, it is known as orbital cavernous hemangioma and is found in women more frequently than men, most commonly between the ages of 20–40. This neoplasm is usually located within the muscle cone, which is lateral to the optic nerve. It is not usually treated unless the patient is symptomatic. Visual impairment happens when the optic nerve is compressed or the extraocular muscles are surrounded.