A new family with hereditary lysozyme amyloidosis with gastritis and inflammatory bowel disease as prevailing symptoms

Abstract

BackgroundSystemic 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.Case presentationWe 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.ConclusionHereditary 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.

Effect of the fluorescent probes ThT and ANS on the mature amyloid fibrils

“…Aggregates of these proteins are widely used model objects for amyloids study. In addition, their accumulation in the body of patients leads to the development of a hereditary systemic lysozyme amyloidosis and insulin-derived amyloidosis [7,42,43]. In vitro proteins fibrillogenesis was induced by their incubation in a buffer containing denaturation agent (3 M guanidine hydrochloride) at a temperature of 57°C [44].…”

First Report of Hereditary Lysozyme Amyloidosis in a South Asian Family

“…Lysozyme amyloidosis has been reported in a handful of families belonging to the European ancestry [4, 9, 11, 12]. There are no reports of ALys in the South Asian ancestry.…”

Mining the potential therapeutic targets for coronary artery disease by bioinformatics analysis

“…Missense mutations in the LYZ gene have been identified in heritable renal amyloidosis. miRNAs serve as stimulating factors at various stages of atherosclerosis to regulate a number of genes, thereby regulating endothelial cells, vascular smooth muscle cells, and the function of macrophages, which control the occurrence of atherosclerosis ( 51 ).…”