title: A new family with hereditary lysozyme amyloidosis with gastritis and inflammatory bowel disease as prevailing symptoms.
abstract: BACKGROUND
  Systemic amyloidoses is a heterogeneous group of diseases either acquired or hereditary. Amyloidoses can involve the gastrointestinal tract and the nature of the precursor protein that forms the fibrils deposits should be identified to adjust the treatment and evaluate the prognosis. Lysozyme amyloidosis (ALys) is a rare, systemic non neuropathic hereditary amyloidosis with a heterogenous phenotype including gastrointestinal, renal and hepatic symptoms.
  
  
  METHODS
  We report and describe symptoms and gastrointestinal tract involvement in a new family with hereditary lysozyme amyloidosis. Clinical manifestations and organ involvement of nine affected members of a new family with the p.Trp82Arg ALys variant were recorded. All affected individuals suffered with prevailing gastrointestinal symptoms leading to the diagnosis of ALys. 8/9 had non specific upper gastrointestinal symptoms and 3/9 had rectocolic inflammation evoking inflammatory bowel disease. No other organ involvement by amyloidosis was found. Histological examination revealed amyloid deposits in all cases and all carried the p.Trp82Arg ALys variant at a heterozygous state.
  
  
  CONCLUSIONS
  Hereditary amyloidosis associated with the p.Trp82Arg lysozyme variant in this new family is predominantly associated with mild upper gastrointestinal tract involvement and in some cases with inflammatory bowel disease. Amyloidosis should be considered in atypical or treatment resistant, upper or lower chronic gastrointestinal symptoms. When associated with a familial history a lysozyme gene mutation must be searched.
authors.forename: Estelle
authors.initials: E
authors.lastname: Jean
authors.forename: Mikael
authors.initials: M
authors.lastname: Ebbo
authors.forename: Sophie
authors.initials: S
authors.lastname: Valleix
authors.forename: Lucas
authors.initials: L
authors.lastname: Benarous
authors.forename: Laurent
authors.initials: L
authors.lastname: Heyries
authors.forename: Aurélie
authors.initials: A
authors.lastname: Grados
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Bernit
authors.forename: Gilles
authors.initials: G
authors.lastname: Grateau
authors.forename: Thomas
authors.initials: T
authors.lastname: Papo
authors.forename: Brigitte
authors.initials: B
authors.lastname: Granel
authors.forename: Laurent
authors.initials: L
authors.lastname: Daniel
authors.forename: Jean-Robert
authors.initials: JR
authors.lastname: Harlé
authors.affiliation: Departement of Internal Medicine, APHM, Aix-Marseille Université, Marseille, France. nicolas.schleinitz@ap-hm.fr.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Schleinitz
mesh_terms: D000328:Adult; D000368:Aged; D028226:Amyloidosis, Familial / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D005260:Female; D005756:Gastritis / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D009113:Muramidase / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D055815:Young Adult
chemical_list: D009113:Muramidase