Familial Cerebral Amyloid Angiopathy (FCAA), also known as hereditary cerebral hemorrhage with amyloidosis, is a rare genetic disorder characterized by the abnormal accumulation of amyloid protein in the walls of small blood vessels in the brain. This condition primarily affects the cerebral cortex and leptomeninges, which are the outer layers of the brain.
The underlying cause of FCAA is mutations in certain genes, including the APP, PSEN1, and PSEN2 genes, which are responsible for the production and processing of amyloid precursor protein. When these genes are mutated, abnormal fragments of amyloid protein are produced and deposited in the blood vessels of the brain. Over time, these amyloid deposits weaken and damage the blood vessels, making them more prone to rupture and resulting in hemorrhages in the brain.
FCAA typically presents with recurrent episodes of bleeding in the brain, including symptoms such as headaches, confusion, seizures, and neurological deficits. The age of onset may vary, but symptoms often begin in mid-adulthood. In some cases, cognitive decline and dementia can also occur as a result of the progressive damage to brain tissue.
Diagnosis of FCAA involves brain imaging techniques, such as magnetic resonance imaging (MRI), to detect the characteristic pattern of amyloid deposits in the blood vessels. Genetic testing can also be performed to identify specific mutations associated with the condition.
Currently, there is no cure for FCAA, and treatment mainly focuses on managing symptoms and preventing further bleeding episodes. This may involve medications to control hypertension and antiplatelet agents to minimize the risk of blood clots. In severe cases, surgical interventions such as clot evacuation or cerebral bypass surgery may be considered.
