Orphanet: AApoAI amyloidosis
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AApoAI amyloidosis

Disease definition

A rare, hereditary amyloidosis with primary renal involvement characterized by renal interstitial and medullary deposition of amyloid, low plasma levels of ApoA-1 and slow disease progression. Main clinical signs and symptoms are hypertension, proteinuria, hematuria and edema due to chronic renal insufficiency leading to end stage renal disease. Hepatosplenomegaly, progressive cardiomyopathy and involvement of skin, testes and adrenals (hypergonadotropic hypogonadism) have also been reported.

ORPHA:93560

Classification level: Subtype of disorder
  • Synonym(s):
    • Apolipoprotein A-I amyloidosis
    • Familial amyloid nephropathy due to apolipoprotein A-I variant
    • Familial renal amyloidosis due to apolipoprotein A-I variant
    • Hereditary amyloid nephropathy due to apolipoprotein A-I variant
    • Hereditary renal amyloidosis due to apolipoprotein A-I variant
  • Prevalence: -
  • Inheritance: Autosomal dominant 
  • Age of onset: -
  • ICD-10: E85.0
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Español (2018) Italiano (2018) Nederlands (2018)

Detailed information

General public

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

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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