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ACys amyloidosis

Synonym(s) CST3-related amyloidosis
Cystatin amyloidosis
HCHWA, Icelandic type
Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
Hereditary cystatin C amyloid angiopathy
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Adolescent
  • E85.4+
  • I68.0*
MeSH -
MedDRA -


Disease definition

Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA (see this term) characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages.


It has been described in 9 sub-families in Icelandic families to date.

Clinical description

Disease onset occurs between the ages of 20-30. Unlike other forms of HCHWA, major systemic amyliodosis and recurrent lobar hemorrhages do occur.


Unlike other forms of HCHWA, it is due to a mutation in the CST3 gene on chromosome 20p11.2, encoding the precursor protein cystatin C.

Genetic counseling

Transmission is autosomal dominant.

Expert reviewer(s)

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

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