DefinitionThis section has been translated automatically.
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.
ClassificationThis section has been translated automatically.
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)
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Occurrence/EpidemiologyThis section has been translated automatically.
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.
EtiopathogenesisThis section has been translated automatically.
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.
ManifestationThis section has been translated automatically.
LocalizationThis section has been translated automatically.
Clinical featuresThis section has been translated automatically.
- 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.
HistologyThis section has been translated automatically.
DiagnosisThis section has been translated automatically.
TherapyThis section has been translated automatically.
- Orthotopic liver transplant.
- Experimental: Drug stabilisation of the TTR tetramer.
LiteratureThis section has been translated automatically.
- 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
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