Hereditary Cerebral Hemorrhage With Amyloidosis

Hereditary cerebral hemorrhage with amyloidosis (HCHWA) is a neurological condition in which an abnormal protein (amyloid) builds up in the walls of the arteries of the brain (and less frequently, veins). This process is known as amyloid deposition, which can lead to strokes, seizures, neurological deficits, cognitive decline, and dementia. Symptoms usually present before the 5th decade of life. There are many different ways of classifying the types of HCHWA based on the underlying genetic changes, proteins involved, signs and symptoms, and the regions in which they were first described. Based on the region in which they were first described, the subtypes include:

• The Dutch, Arctic, Piedmont, Iowa, Flemish, Italian types are caused by mutations in the APP gene
• The British and Danish types are caused by mutations in the ITM2B gene
• The Icelandic type is caused by mutations in the CST3 gene 

All types of HCHWA currently described are inherited in an autosomal dominant manner. There is no cure for HCHWA, however, antihypertensive therapy is typically recommended.