Case ReportsA family with gastrointestinal amyloidosis associated with variant lysozyme☆
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Case report
A 59-year-old woman, born in Italy (Piedmont), had a medical history of partial gastrectomy for a hemorrhagic “gastric peptic ulcer” in 1984. In 1998, gastrointestinal amyloidosis was diagnosed on biopsies performed on the hemorrhagic mucosa at the gastroduodenal anastomosis level. Histopathologic analysis revealed an important eosinophilic and amorphous deposit around the vessels located in the digestive mucosa, which was typical of amyloidosis, as confirmed by its pathognomonic green
Discussion
We report here a new family with hereditary lysozyme amyloidosis, mainly characterized by gastrointestinal involvement in our patient and her father. This family represents the fifth one with lysozyme amyloidosis and the second one with the mutation characterized by substitution of tryptophane for arginine at position 64 (W64R) of the lysozyme gene.2
Only 4 families with hereditary lysozyme amyloidosis have been reported in the literature until now.3, 4, 5, 6 Two of the families were English, 1
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