Search for a rare disease
Other search option(s)
Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA (see this term) characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients.
ORPHA:324718Classification level: Subtype of disorder
- ABeta amyloidosis, Flemish type
- ABetaA21G-related amyloidosis
- HCHWA, Flemish type
- Hereditary cerebral hemorrhage with amyloidosis, Flemish type
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant
- Age of onset: Adult
- ICD-10: E85.4+ I68.0*
- OMIM: 605714
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
It has been described in one Dutch and one British family.
HCHWA, Flemish type is due to a mutation in the APP gene on chromosome 21q21.2, encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels.
Transmission is autosomal dominant.
Article for general public