ABeta amyloidosis, Dutch type

ABeta amyloidosis, Dutch type, also known as hereditary cerebral hemorrhage with amyloidosis–Dutch type (HCHWA-D), is a rare inherited form of cerebral amyloid angiopathy caused by a specific point mutation (E693Q) in the APP gene (amyloid precursor protein) on chromosome 21. This mutation leads to the abnormal accumulation of amyloid-beta protein in the walls of small and medium-sized blood vessels of the brain (cerebral amyloid angiopathy), making them fragile and prone to rupture. The hallmark clinical feature of this condition is recurrent hemorrhagic strokes (intracerebral hemorrhages), which typically begin in mid-adulthood, often between the ages of 40 and 65. These strokes can cause a range of neurological symptoms including sudden severe headache, focal neurological deficits such as weakness or speech difficulties, seizures, and progressive cognitive decline leading to dementia. The severity of each hemorrhagic episode varies, and recurrent strokes often lead to cumulative brain damage. Some patients may also develop leukoencephalopathy (white matter changes) visible on brain imaging. There is currently no cure or disease-modifying treatment for HCHWA-D. Management is primarily supportive and focuses on controlling blood pressure, avoiding anticoagulant and antiplatelet medications that could increase bleeding risk, and rehabilitative care following stroke events. Genetic counseling is recommended for affected families. The condition was first described in families from the coastal region of the Netherlands, which accounts for its name. Prognosis is variable, but recurrent hemorrhages often lead to significant disability and reduced life expectancy.

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