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Related Experiment Video

Updated: Feb 4, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

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[Lysozyme amyloidosis].

M Scafi1, S Valleix2, A Benyamine1

  • 1Service de médecine interne, hôpital Nord, Aix Marseille université, Assistance publique-Hôpitaux de Marseille (AP-HM), chemin des Bourrely, 13015 Marseille, France.

La Revue De Medecine Interne
|September 25, 2018
PubMed
Summary

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This summary is machine-generated.

Lysozyme amyloidosis is a rare hereditary disease causing organ damage, often presenting with Sicca syndrome and potentially leading to liver rupture or kidney failure. Early diagnosis and multidisciplinary care are crucial for managing this condition.

Area of Science:

  • Genetics and Molecular Biology
  • Nephrology
  • Hepatology
  • Rheumatology

Background:

  • Lysozyme amyloidosis is a rare, non-neuropathic hereditary amyloidosis identified in 1993.
  • It presents with diverse clinical manifestations, often including Sicca syndrome, digestive tract involvement, and potentially life-threatening hepatic rupture.
  • Renal, cardiac, and pulmonary involvement are also reported, complicating diagnosis and management.

Purpose of the Study:

  • To review the clinical spectrum, diagnosis, genetic basis, and management of lysozyme amyloidosis.
  • To highlight the diagnostic challenges posed by phenotypic heterogeneity and incomplete penetrance.
  • To emphasize the need for long-term multidisciplinary follow-up and explore therapeutic options.

Main Methods:

Keywords:
Amylose héréditaireGeneticsGénétiqueHereditary amyloidosisHistologieHistopathologicalLysozyme

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  • Review of reported cases and genetic studies of lysozyme amyloidosis.
  • Diagnostic methods include Congo red staining, birefringence, and immunohistochemistry for antilysozyme antibodies.
  • Genetic analysis focusing on mutations and polymorphisms in the lysozyme gene.

Main Results:

  • Fifty cases reported, indicating potential under-diagnosis.
  • Amyloid deposits identified via Congo red staining and immunohistochemistry.
  • Eight pathogenic mutations and one polymorphism identified in the lysozyme gene (exons 2, 3, 4).
  • Autosomal dominant transmission observed without genotype-phenotype correlation.

Conclusions:

  • Lysozyme amyloidosis is a complex hereditary disorder with significant organ involvement, particularly liver and kidney.
  • Diagnosis is challenging due to variable presentation; advanced staining and genetic analysis are key.
  • Limited therapeutic options exist, with transplantation offering benefits; long-term multidisciplinary care is essential.