Localized gastrointestinal tract amyloidosis is uncommon and little is known regarding this entity. There is no current standard of care for the management of localized amyloidosis. The objective of this study was to evaluate the characteristics, available treatments, outcomes and surveillance of these patients.

We conducted a systematic review of cases reported in the literature from 1962 to 2021. Patients with gastrointestinal amyloidosis reported in English literature were included in the analysis. We described and summarized the patient's characteristics, treatments, clinical presentations, outcomes and surveillance.

The systematic review of reported clinical cases included 62 patients. In these patients, the most common site of amyloid deposition was the stomach (42%). The median age of diagnosis is 64.4 years old; there is a 2:1 prevalence among males (63%) to females (37%); abdominal pain is the most common type of presentation (41%), although patients could also be asymptomatic. There is a high curative rate (100%) with resection alone. Among patients treated with a type of systemic therapy, 80% achieved a complete response. The minority of cases reported a type of surveillance post treatment, and among those 62% pursued serial clinical evaluations alone.

To our knowledge, this is the first and largest systematic review of the literature in gastrointestinal tract amyloidosis. This is more common among males and seems to have an excellent curative rate (100%) with surgery alone. Systemic therapy is an option for those with non-resectable amyloidomas. Serial clinical evaluations should be part of the standard surveillance care in these patients.

Amyloidosis is a general term that refers to the extracellular deposition of amyloid. The amyloid can also be deposited in a single organ. However, cases of localized gastric amyloidosis have rarely been reported. Here, we report a case of localized gastric amyloidosis that was successfully treated with endoscopic submucosal dissection.

A 60-years-old man underwent esophagogastroduodenoscopy as part of a regular check-up without any comorbidities or symptoms.

A 12 mm-sized, round, elevated lesion with a central depression, which was covered with normal mucosa, and located on the greater curvature of the lower body of the stomach was discovered during endoscopy. Subsequently, endoscopic ultrasonography was performed, which revealed a 11.7 mm-sized, hypoechoic, heterogeneous lesion located in the muscularis mucosa and submucosa. A biopsy was performed, and amyloid deposition was confirmed. Although other investigations for checking systemic amyloidosis were performed, there were no specific findings. Therefore, the final diagnosis was localized gastric amyloidosis.

Endoscopic submucosal dissection was performed according to the patient's request and the lesion was completely removed.

The patient was followed-up for 3 years without any recurrence.

Endoscopic submucosal dissection can be good diagnostic and treatment option for localized gastric amyloidosis.

Localized gastric amyloidosis (LGA) is a rare disease characterized by abnormal extracellular deposition of amyloid protein restricted to the stomach and it is confirmed by positive results of Congo red staining. Over decades, only a few cases have been reported and studies or research focusing on it are few. Although LGA has a low incidence, patients may suffer a lot from it and require proper diagnosis and management. However, the pathology of LGA remains unknown and no overall review of LGA from its presentations to its prognosis has been published. Patients with LGA are often asymptomatic or manifest atypical symptoms, making it difficult to differentiate from other gastrointestinal diseases. Here, we report the case of a 70-year-old woman with LGA and provide an overview of case reports of LGA available to us. Based on that, we conclude current concepts of clinical manifestations, diagnosis, treatment, and prognosis of LGA, aiming at providing a detailed diagnostic procedure for clinicians and promoting the guidelines of LGA. In addition, a few advanced technologies applied in amyloidosis are also discussed in this review, aiming at providing clinicians with a reference of diagnostic process. With this review, we hope to raise awareness of LGA among the public and clinicians.

Localized primary gastric amyloidosis is a rare disorder characterized by the extracellular deposition of insoluble fibrillary protein in the stomach and can mimic various diseases on endoscopic examination, including gastrointestinal stromal tumors, gastric cancer and ulcers.

Here, we report a series of three cases of localized gastric amyloidosis mimicking gastric mucosa-associated lymphoid tissue (MALT) lymphoma on endoscopic examination that were evaluated over the past ten years in our hospital. The different detection times of this rare disease resulted in three completely different outcomes, indicating the strong importance of early detection, diagnosis and treatment. The difficulties encountered in making an accurate diagnosis and differential diagnosis are highlighted, and this report provides clinical experience for the diagnosis of localized primary gastric amyloidosis.

Localized gastric amyloidosis is a rare metabolic disease that resembles MALT lymphoma. Early detection, diagnosis and treatment of localized gastric amyloidosis result in an excellent prognosis.

Amyloidomas are tumor-like deposits of amyloid. Amyloidoma of the gastrointestinal tract is rare. To the best of our knowledge, this is the first instance of diagnosis of an amyloidoma in the gastrointestinal tract by fine needle aspiration (FNA).

We report a case of a 64-year-old male with a history of ulcerative colitis and primary sclerosing cholangitis who was incidentally found to have a mass in the stomach wall.

Initially thought to be gastrointestinal stromal tumor, FNA demonstrated the lesion to be amyloidoma with a prominent giant cell reaction. This was further confirmed by mass spectrometry. This is the only case report of diagnosis of a gastric amyloidoma by FNA.

The presence of a florid giant cell reaction in the absence of ulceration or an inflammatory or neoplastic lesion should alert the pathologist to the possibility of an amyloidoma. This is the only case report of diagnosis of a gastric amyloidoma by FNA.

AMYLOIDOSIS IS A GROUP OF DIVERSE DISORDERS THAT FALL INTO SEVERAL MAJOR CATEGORIES: primary, secondary, dialysis-associated, and hereditary forms. Clinically, amyloidosis may be categorized as localized or systemic. The gastrointestinal tract is among the most common places for deposition of amyloid, but large, localized amyloid deposits are an uncommon occurrence and rarely cause extraluminal bowel compression resulting in obstruction as was seen in the case presented in this clinical scenario.

We report a patient with localized, primary gastric amyloidosis, who presented with recurrent hematemesis, a rare presentation for an unusual disease. The patient was initially thought to have stomach cancer because of the X-ray and gastroscopic appearance of the gastric mucosa, but was eventually found to have primary amyloidosis confined to the stomach and regional lymph nodes. The amyloid was found to be of immunoglobulin origin, AL amyloid. Other reports of localized gastric amyloidosis are reviewed and compared with the present case. Most of the patients were clinically suspected of gastric carcinoma, and only one had hematemesis. We propose that amyloidosis should be considered in the differential diagnosis of hematemesis and gastric tumors.

Amyloidosis is characterized by extracellular deposition of abnormal protein. There are six types: primary, secondary, hemodialysis-related, hereditary, senile, and localized. Primary (AL) amyloidosis is associated with monoclonal light chains in serum and/or urine with 15% of patients having multiple myeloma. Secondary (AA) amyloidosis is associated with inflammatory, infectious, and neoplastic diseases. The presentation is protean, including macroglossia, a dilated and atonic esophagus, gastric polyps or enlarged folds, and luminal narrowing or ulceration of the colon. Amyloid deposition in the gastrointestinal (GI) tract is greatest in the small intestine. The symptoms include diarrhea, steatorrhea, or constipation. Pseudo-obstruction carries a particularly grave prognosis, often not responding to pro-motility agents. Hepatic involvement is common, but the clinical manifestations are usually mild with hepatomegaly and an elevated alkaline phosphatase level. Biopsies to diagnose amyloidosis can be taken from the fat, kidney, intestine, or bone marrow. The safety of liver biopsies is controversial. With Congo Red stain, amyloid appears red in normal light and apple-green in polarized light. Treatment for AL amyloidosis is chemotherapy and stem cell transplantation; treatment for AA amyloidosis is control of the underlying disease. Amyloidosis should be considered in patients with proteinuria, cardiomyopathy, hepatomegaly (with mildly abnormal liver tests), peripheral and autonomic neuropathy, weight loss, and GI symptoms.

Amyloidosis is characterized by the pathologic deposition of specific proteins throughout the body. Gastrointestinal involvement with amyloid associated with plasma cell dyscrasias (AL type amyloidosis) is common, but systematic description of the condition is lacking. The aim of this investigation was to characterize the clinical presentation, endoscopic findings, and histopathologic correlates in a series of patients with systemic AL amyloidosis of the luminal gastrointestinal tract.

Eligible patients were identified by interrogating the histopathology database of our institution during a 14-year time period. Medical record, histopathologic, and laboratory data were collected, analyzed, and correlated with endoscopic findings.

Nineteen patients with systemic AL amyloidosis of the luminal gastrointestinal tract were identified. Gastrointestinal symptoms or signs related to amyloid involvement were noted in 95% of patients; abdominal pain, change in bowel habits, overt gastrointestinal bleeding, and complaints related to altered motility were the predominant presentations. Endoscopic abnormalities were found in nearly three fourths of patients, including ulcerations and submucosal hematomas. When gastrointestinal bleeding was the presenting symptom, submucosal hematomas were a common finding during endoscopic evaluation.

AL type amyloidosis of the luminal gastrointestinal tract is a rare disease that presents with common, nonspecific complaints. The endoscopic detection of a submucosal hematoma in the setting of gastrointestinal bleeding in patients with plasma cell dyscrasias should raise suspicion for the disease.

We describe a 55-year-old man with isolated duodenal and jejunal amyloidosis producing rare endoscopic and histologic findings. The patient had no specific gastrointestinal complaints but underwent esophagogastroduodenoscopy and colonoscopy because of progressive microcytic anemia. Endoscopy revealed multiple polyps, some filiform and measuring up to 3 cm in length, in the duodenum and proximal jejunum. Microscopically, the polyps resulted from amyloid deposition, predominantly within the submucosa, but also focally involving muscularis mucosae and lamina propria. The amyloid formed multiple globular submucosal deposits with a lamellated appearance reminiscent of corpora amylacea; linear amyloid deposition was also present in a perivascular distribution and within the overlying mucosa. Immunophenotyping confirmed AL amyloidosis with lambda immunoglobulin light chain restriction. There was no clinical evidence of visceral amyloidosis. The source of lambda light chain production was unclear as bone marrow biopsy and multiple gastrointestinal biopsies revealed normal numbers of polyclonal plasma cells. Further, immunoglobulin-free light chain assay was normal, as were serum and urine protein electrophoreses with immunofixation. This endoscopic presentation of isolated small bowel polyposis is an uncommon association with AL amyloidosis and to our knowledge this represents the first case of globular gastrointestinal amyloidosis resulting from AL amyloid.

We report a case of localized jejunal amyloidosis occurring in a 74-year-old man who experienced an episode of digestive bleeding while he was receiving oral anticoagulation. It illustrates a rare entity, characterized by an endoscopic aspect of polypoid, pseudotumoral formations. Histologically, submucosal connective tissues, muscularis mucosae, and blood vessel walls are massively infiltrated by amyloid, giving a typical red/green birefringence under polarized light.

Five cases of primary gastrointestinal (GI) lymphoma (three in the stomach, one in the ileum (IPSID) and one in the colon) associated with localized AL amyloidosis were studied to identify morphological or immunohistochemical features which could explain the amyloid deposition.

All the cases were low-grade marginal zone B-cell lymphomas; one case of gastric lymphoma and the IPSID also had a high-grade component. The lymphomas had a monoclonal plasma cell population, with different light and heavy-chain type expression in the five cases. Plasma cell differentiation was closely associated with the amyloid deposits. The latter were an incidental microscopic finding in one case, but produced tumoral masses in the other.

The presence of amyloid in primary GI lymphoma is rare, but can have diagnostic value. In the present study, neither particular features of the lymphomatous proliferation nor specific agents are identified. Therefore, the factors predisposing to amyloid deposition require elucidation.

The 47-year-old man reported here showed large encapsulated masses in the left cerebellopontine angle and 6 years later in the enlarged left jugular foramen. Histologically, the tumors demonstrated a large deposit of amyloid composed of immunoglobulin light chain-derived proteins (AL). There was no evidence of chronic inflammatory or infectious processes or immunoglobulin abnormalities.