Incomplete ileus and hemafecia as the presenting features of multi-organ involved primary systemic AL amyloidosis: a rare case report

Abstract

BackgroundAL Amyloidosis is known to be a systemic disease affecting multiple organs and tissue while it’s rare that patients present with gastrointestinal symptoms at first and later develop multiple-organ dysfuction. Clinical signs are not specific and the diagnosis is rarely given before performing immunofixation and endoscopy with multiple biopsies. We would like to emphasize the value of precise diagnostic process of AL amyloidosis.Case presentationIn this case report, we describe a 56-year-old man who presented with recurrent periumbilical pain for 4 months and gradually worsened over a month. After a series of tests, he was finally diagnosed with primary systemic AL amyloidosis. He was treated with a chemotherapy regimen (Melphalan, dexamethasone and thalidomide) achieving a good clinical response.ConclusionOn account of the high misdiagnosis rate, establishing the most precise diagnosis in first time with typing amyloidogenic protein becomes increasingly vital. Although the presenting feature is usually nonspecific, AL amyloidosis ought to be considered when multiple organs are involved in a short period.

Primary gastrointestinal amyloidosis with gastrointestinal hemorrhage and intestinal pseudo-obstruction: a report of a rare case

“…In the database search, five cases of patients presenting with the primary complaint of hematemesis were found in the database of the Japan Medical Abstracts Society, and 22 cases were found on PubMed. With respect to intestinal pseudo-obstruction, nine cases were found in the database of the Japan Medical Abstracts Society, and 36 cases were found on PubMed [ 5 , 6 ]. There are just three cases similar to the case presented here, reporting both, gastrointestinal hemorrhage and intestinal pseudo-obstruction [ 7 – 9 ] (Table 2 ).…”

A Rare Case of Intestinal Obstruction Secondary to Amyloidosis

“… 1 In patients presenting with multisystemic abnormalities, especially those involving the kidneys and heart, the organs most often affected, GI amyloidosis should be considered. 2 Given the rarity of GI amyloidosis, there is no definitive guideline for treatment. In general, NG tube decompression of the GI tract is indicated for those with symptoms of obstruction.…”

Genetic pathogenesis of immunoglobulin light chain amyloidosis: basic characteristics and clinical applications

“…The clinical presentations of AL are various and not specific, making the disease diagnosis difficult and delay most of the time. Theoretically, any organ can be involved, except the brain, with the heart being the most commonly involved organ, followed by the kidney, liver, gastrointestinal tract, soft tissue, and peripheral and autonomic neural systems [1,[5][6][7] (see Fig. 1).…”

“…Detailed information about each involved organ is summarized in the figure. The representative biopsy samples of the stomach ( a ), kidney ( b ), fat tissue ( c ) and skin ( d ) stained with Congo red show amyloid deposition in these tissues, indicated with arrows ( a was derived from Li Tian et al [ 7 ], and b – d were from Ting Li et al with permission [ 6 ]) …”