Orphanet: ABetaL34V amyloidosis

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ABetaL34V amyloidosis

Disease definition

Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline.


Classification level: Subtype of disorder
  • Synonym(s):
    • ABeta amyloidosis, Piedmont type
    • ABetaL34V-related amyloidosis
    • HCHWA, Piedmont type
    • Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult, Elderly
  • ICD-10: E85.4+  I68.0*
  • OMIM: 605714
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Article for general public


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