Amyloidosis hereditary E85.2

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 16.08.2023

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

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Group of autosomal-dominantly inherited, rare diseases with clinical and genetic heterogeneity characterized by deposits of insoluble protein and peptide aggregates that form aligned, amyloid fibrils 10 to 12 nm in diameter in a β-sheet structure. The nondegradable amyloids deposit in numerous organs and, with increasing mass, interfere with organ function. In systemic amyloidoses, the deposition occurs extracellularly. In terms of fine tissue, amyloid is characterized by:

  • Blue staining after contact with and dilute sulfuric acid.
  • Eosinophilia in conventional HE staining
  • Green-yellowish to red staining and birefringence in polarized light after staining with Congo red
  • Electron microscopy by a meshwork of unbranched fibrils and by a non-fibrillar component (serum amyloid P component) common to all types of systemic and localized amyloid
  • Beta-fold sheet structure, detectable by X-ray diffraction
  • Differently associated protein types (detectable by laser microdissection of amyloid deposits followed by mass spectrometry)

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The classification is based on the mutated "amyloid" proteins and the clinical symptoms:

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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.

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The classification of all systemic and thus also hereditary aymloidoses is based on the biochemical structure of the amyloid fibrils. These are formed by polymerization of specific precursor proteins. So far, > 30 different such precursor proteins have been identified. Typical protein representatives are variants of:

  • Transthyretin
  • Apolipoprotein AI (ApoAI)
  • apolipoprotein AII
  • the Aα-chain of fibrinogen
  • Gelsolin
  • Lysozyme
  • Cystatin C.

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

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

Clinical features
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The clinical presentation of hereditary amyloidoses (as with acquired systemic amyloidoses) is variable and depends on the particular precursor protein, its mutations, and the localization of the amyloid deposits. Depending on histoanatomic distribution and amount, amyloid can cause progressive and life-threatening organ dysfunction, affecting different organs depending on the amyloid variant.

For example, in the most common hereditary amyloidosis, TTR amyloidosis, the following symptoms are prominent: polyneuropathy, carpal tunnel syndrome, impotence, diarrhea, constipation, cardiomyopathy, and vitreous opacities. In other mutatiton types are found: nephropathies (Afib), cardiomyopathies (FAC), petechiae, polyneuropathies (AGel), corneal opacities (AGel) and cerebral hemorrhages (Acys, Abeta).

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Evidence of amyloid deposits of the infested internal organs.

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

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Orthotopic liver transplantation.

Experimental: drug stabilization of the TTR tetramer.

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


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


Last updated on: 16.08.2023