Dutch Type Hereditary Cerebral Amyloid Angiopathy (HCHWA-D), also known as hereditary cerebral hemorrhage with amyloidosis-Dutch type, is a rare, inherited neurological disorder characterized by the abnormal accumulation of amyloid protein in the walls of blood vessels in the brain. This condition specifically affects the small and medium-sized arteries and capillaries, resulting in the weakening and degeneration of these blood vessels.
The accumulation of amyloid protein causes the blood vessels to become fragile and prone to rupture, leading to recurrent cerebral hemorrhages in affected individuals. The most common symptom of Dutch Type HCHWA is recurrent strokes, often starting in mid-adulthood. Other symptoms may include progressive dementia, headaches, seizures, and neurological deficits.
The genetic cause of Dutch Type HCHWA is a mutation in the APP (amyloid precursor protein) gene located on chromosome 21. This mutation leads to the production of a specific form of amyloid protein called ABri, which is deposited in the walls of blood vessels.
Diagnosis of Dutch Type HCHWA involves a combination of clinical evaluation, medical history assessment, brain imaging techniques such as MRI (magnetic resonance imaging), genetic testing to identify the APP gene mutation, and sometimes a brain biopsy to confirm the presence of amyloid protein.
There is currently no cure for Dutch Type HCHWA. Management is aimed at symptom control and prevention of further cerebral hemorrhages, which may involve medication to manage blood pressure and other risk factors, regular monitoring of the brain for potential bleeding, and supportive care to address cognitive and functional impairments.
The prognosis for Dutch Type HCHWA is generally poor, with most affected individuals experiencing progressive neurological decline and reduced life expectancy.
