Unusual case of amyloidosis presenting as a jejunal mass

Abstract

Amyloidosis constitutes a heterogeneous group of disorders of protein misfolding that can involve different organ systems. The disease can occur either in a systemic or localised manner that is well known to involve the gastrointestinal (GI) tract. GI amyloidosis can present with a wide range of symptoms including diarrhoea, bleeding and obstruction. This case illustrates a patient with localised jejunal amyloid light chain disease that was diagnosed serendipitously during a workup for haematuria. Our patient was otherwise asymptomatic, but this case underscores the importance of considering amyloidosis as a possible cause of isolated masses of the small intestine.

A Rare Case of Gastrointestinal Amyloidosis Due to Monoclonal Gammopathy of Undetermined Significance

“…Case reports concerning GI amyloidosis have been reported on multiple myeloma, MGUS, but have not been associated with plasma cell dyscrasia [10][11][12][13]. Two other case reports described findings consistent with MGUS [14,15].…”

“…These patients presented at different stages of their disease, ranging from having an incidental finding [11,15] to presenting with severe complications such as hematemesis, anemia, and weight loss [10,[12][13][14]. Furthermore, four of these six patients improved with treatment [10,11,14,15] while another two succumbed to the disease [12,13]. Future studies should focus on recognizing early signs and symptoms of AL amyloidosis and its many manifestations to avoid this outcome in future patients.…”

“…Two other case reports described findings consistent with MGUS [ 14 , 15 ]. These patients presented at different stages of their disease, ranging from having an incidental finding [ 11 , 15 ] to presenting with severe complications such as hematemesis, anemia, and weight loss [ 10 , 12 - 14 ]. Furthermore, four of these six patients improved with treatment [ 10 , 11 , 14 , 15 ] while another two succumbed to the disease [ 12 , 13 ].…”

Modern concepts of primary systemic AL-amyloidosis: the viewpoint of a gastroenterologist

“…В ряде случаев массивное кровотечение сочетается с клиникой псевдообструкции кишечника за счет наличия амилоидных полипов, дивертикулов [21]. Амилоидные депо в кишечнике иногда настолько визуально похожи на злокачественные новообразования [29,30], что часто принимается решение о выполнении лапароскопической биопсии или проведении открытого оперативного вмешательства. Описана манифестация AL-амилоидоза выраженной постпрандиальной эпигастральной болью [31,32], образованием гематомы в гепатодуоденальной связке [32].…”

“…Отложение амилоида в различных слоях пищеварительного тракта сопровождается вторичным нарушением моторной функции, начиная с минимально выраженной тошноты, рвоты, дисфагии, вздутия живота, снижения аппетита, и вплоть до развития гастропареза, запора, формирования признаков хронической кишечной псевдообструкции [15,16,29,30].…”