Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Hereditary cerebral hemorrhage with amyloidosis, Flemish type

ORPHA324718
Synonym(s) HCHWA, Flemish type
Prevalence -
Inheritance -
Age of onset -
ICD-10
  • E85.4+
  • I68.0*
OMIM
UMLS -
MeSH -
MedDRA -

Summary

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.

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.

Expert reviewer(s)

  • Dr Joost HAAN
  • Dr G.M. [Gisela] TERWINDT

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image

Detailed information

Summary information
Review article
  • EN (2011)Patient Inform
Get Acrobat Reader
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.