Amyloidosis hereditary E85.2

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

Amyloidosis hereditary; Familial amyloidoses; Familial amyloidosis; Familial systemic amyloidoses; Hereditary amyloidoses; Hereditary systemic amyloidoses; Systemic hereditary amyloidosis

Definition
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Group of autosomal-dominantly inherited, rare diseases with clinical and genetic heterogeneity, which leads to deposits of the "waste protein" amyloid in numerous organs The disease is counted among the systemic (primary) amyloidoses. They are summarized under the designation AH or AF.

Classification
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The classification is based on the amyloid-forming proteins involved:

  • transthyretin amyloidosis (TTR)
    • Familial amyloid polyneuropathy of the Portuguese type (FAP 1)
    • Familial cardiomyopathy (FAC)
  • Apolipoprotein A1 (nephro-, polyndeuro-, hepatopathy)
  • Gelsolin (corneal clouding, polyneuropathy)
  • Fibrinogen Aα (nephropathy, petechiae)
  • Lysozyme (nephropathy)
  • Amyloid-β-precursor protein (Hereditary cerebral haemorrhage with amyloidosis - Dutch type)
  • Cystatin C (Hereditary cerebral haemorrhage with amyloidosis - Icelandic type)
  • BRI precursor protein (British/Danish type hereditary dementia)

Occurrence/Epidemiology
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Rare group of diseases occurring all over the world. Commonly found in Portugal, Japan, Sweden, Spain, Finland and France. Hereditary systemic amyloidosis affects 5% of the total systemic amyloidosis population.

Etiopathogenesis
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Occurrence of the disease through mutations of genes coding for the following physiological proteins: most commonly for transthyretin (TTR), a thyroxine-binding prealbumin; more rarely for apolipoprotein A1, lysozyme, gelsolin, amyloid-β, cystatin C, BRI precursor protein and fibrinogen Aα.

Manifestation
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Significantly variable age of manifestation, depending on the mutation, usually between the ages of 30 and 70.

Localization
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Autonomic nervous system, heart, gastrointestinal tract, liver, kidney and vitreous body.

Clinical features
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  • In the case of the frequently occurring TTR amyloidosis: polyneuropathy, carpal tunnel syndrome, impotence, diarrhoea, constipation, cardiomyopathy and vitreous opacities.
  • Less frequently in the presence of other mutations: nephropathy, petechiae and renal insufficiency.

Histology
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Evidence of amyloid deposits of the infested internal organs.

Diagnosis
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Amyloid detection in the affected organs with histological (Congo red staining) and immunohistochemical identification.

Therapy
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  • Orthotopic liver transplant.
  • Experimental: Drug stabilisation of the TTR tetramer.

Literature
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  • Adams D et al (2000) The course and prognostic factors of familial amyloid polyneuropathy after liver transplantation. Brain 123: 1495-1504
  • Almeida MR et al (2000) Screening and biochemical characterization of transthyretin variants in the Portuguese population. Hum Mutate 9: 226-233
  • Buxbaum J (2006) The genetics of the amyloidoses: interactions with immunity and inflammation. Genes and Immunity 7: 439-449
  • Hund E et al (2001) Transthyretinassociated neuropathic amyloidosis. Neurology 56: 431-435

Incoming links (1)

Transthyretin;

Disclaimer

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

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Last updated on: 29.10.2020