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ABetaL34V amyloidosis

Disease definition

A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline. This subtype is due to a mutation in the APP gene (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.

ORPHA:324703

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*
  • ICD-11: 8B22.3
  • OMIM: 605714
  • UMLS: C5679882
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Deutsch (2013) Español (2013) Français (2013) Italiano (2013) Nederlands (2013) Polski (2013, pdf)

Detailed information

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Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

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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.