Hereditary Cerebral Amyloid Angiopathy (CAA) is a rare genetic disorder characterized by the accumulation of a protein called amyloid in the blood vessels of the brain. It is considered a subtype of cerebral amyloid angiopathy, which can also occur sporadically without a known genetic cause.
In CAA, amyloid proteins, specifically the beta-amyloid protein, build up in the walls of blood vessels, leading to their weakening and disruption. This can result in the leakage of blood into the brain tissue (cerebral hemorrhage), causing various neurological symptoms.
The hereditary form of CAA is caused by mutations in specific genes, such as the APP (amyloid precursor protein) and ITM2B (integral membrane protein 2B) genes. These mutations affect the production and processing of amyloid proteins, leading to their abnormal accumulation in blood vessels.
Symptoms of hereditary CAA can include recurrent cerebral hemorrhages, cognitive impairment, headaches, seizures, and neurological deficits. The onset and severity of symptoms can vary, but they often appear earlier in life compared to the sporadic form of CAA.
Diagnosis of hereditary CAA typically involves a combination of clinical evaluation, neuroimaging techniques (such as magnetic resonance imaging or MRI), and genetic testing to identify specific mutations. Treatment options are limited and mainly focus on managing symptoms and preventing complications like further brain bleeding.
Overall, hereditary CAA is a rare genetic condition characterized by the accumulation of amyloid proteins in brain blood vessels, leading to cerebral hemorrhages and neurological symptoms. Further research is needed to better understand the underlying mechanisms and develop effective treatments for this disorder.
