Visual impairment happens when the optic nerve is compressed or the extraocular muscles are surrounded. Mechanism
There are several known causes for cavernous hemangiomas, but some cases are still unknown. Radiation treatment used for other medical conditions has been suggested to cause cavernous malformation in some patients. Hemangioma tumors are a result of rapid proliferation of endothelial cells and pericytic hyperplasia, or the enlargement of tissue as a result of abnormal cell division pericytes. The pathogenesis of hemangioma is still not understood. It has been suggested that growth factors and hormonal influences contribute to the abnormal cell proliferation. Cavernous liver hemangiomas are more commonly diagnosed in women who have been pregnant. As a result of this, it is believed that estrogen levels may play a role in the incidence of liver cavernomas. Genetic studies show that specific gene mutations or deletions are causes for the disease. The genes identified for cerebral cavernous hemangiomas (or malformations), are CCM1 (also KRIT1), CCM2 (also MGC4607, malcavernin) and CCM3 (also PDCD10). The loss of function of these genes is believed to be responsible for cerebral cavernous malformations. Furthermore, it is also believed that a "second hit mutation" is necessary for the onset of the disease. This means that having a mutation in one of the two genes present on a chromosome is not enough to cause the cavernous malformation, but mutation of both alleles would cause the malformation. Additionally, research on hemangiomas in general has shown that loss of heterozygosity is common in tissue where hemangioma develops.
Research needs to be conducted on the efficacy of treatment with stereotactic radiation therapy, especially on the long-term. However, radiotherapy is still being studied as a form of treatment if neurosurgery is too dangerous due to the location of the cavernoma. Genetic researchers are still working on determining the cause of the illness and the mechanism behind blood vessel formation. Clinical trials are being conducted to better assess when it is appropriate to treat a patient with this malformation and with what treatment method. Additionally, long-term studies are being conducted because there is no information related to the long-term outlook of patients with cavernoma. An existing registry known as The International Cavernous Angioma Patient Registry collects information from patients diagnosed with cavernoma in order to facilitate discovery of non-invasive treatments. References
Further reading
External Links
Alliance to Cure Cavernous Malformation [1]"It is our mission to inform, support, and mobilize those affected by cavernous angioma and drive research for better treatments and a cure. We do this by developing and executing strategic, creative, high-return interventions as a model for rare diseases." Cavernoma Alliance UK, "Mission: To work to find a cure for cavernoma, improving treatment and supporting those affected by cavernoma along the way."