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Gastrointestinal Bleeding Caused by Large Intestine Amyloidosis

Federal Practitioner. 2023 August;40(8)a:262-264 | doi:10.12788/fp.0389
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Background: Amyloidosis is a rare disorder caused by abnormal folding of proteins, leading to the dysfunction of normal tissues. Amyloid deposition can affect several organs, but deposition in the large intestine is rare.

Case Presentation: A 79-year-old man presented with gastrointestinal bleeding and nonspecific symptoms of weight loss, dry heaves, dysphagia, and weakness. The patient underwent esophagogastroduodenoscopy and colonoscopy and a biopsy confirmed the diagnosis of intestinal amyloidosis.

Conclusions: This case report highlights the importance of a strong differential when working up gastrointestinal bleeding that includes amyloidosis. Early identification and multidisciplinary involvement are crucial for management and tailored care to each patient’s needs.

Discussion

Amyloidosis is a rare disorder of abnormal protein folding, leading to the deposition of insoluble fibrils that disrupt normal tissues and cause disease.3 There are several variations of amyloid, but the most common type is AL amyloidosis, which affects several organs, including the heart, kidney, liver, nervous system, and GI tract. When AL amyloidosis involves the liver, the median survival time is about 8.5 months.6 There are different ways to diagnose the disease, but a tissue biopsy and Congo Red staining can confirm specific organ involvement as seen in our case.

This case adds another layer to our constantly expanding differential as health care practitioners and proves that atypical patient presentations may not be atypical after all. GI amyloidosis tends to present similarly to our patient with bleeding, malabsorption, dysmotility, and protein-losing gastroenteropathy as ascites, edema, pericardial effusions, and laboratory evidence of hypoalbuminemia.7 Because amyloidosis is a systemic illness, early recognition is important as intestinal complications tend to present as symptoms, but mortality is more often caused by renal failure, cardiomyopathy, or ischemic heart disease, making early multispecialty involvement very important.8

Conclusions

Health care practitioners in all specialties should be aware of and include intestinal amyloidosis in their differential diagnosis when working up GI bleeds with the hope of identifying the disease early. With early recognition, rapid biopsy identification, and early specialist involvement, patients will get the opportunity for expedited multidisciplinary treatment and potentially delay rapid decompensation as shown by the evidence in this case.