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1.
Clin Case Rep ; 12(6): e8978, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38799515

ABSTRACT

This case highlights the importance of considering tuberculosis as an underlying cause of gastrointestinal amyloidosis, even in patients previously treated for the infection. Clinicians should maintain a high index of suspicion for atypical presentations of amyloidosis, especially in individuals with chronic inflammation, enabling early diagnosis and tailored management for improved patient outcomes. Abstract: Gastrointestinal amyloidosis is a rare condition often associated with chronic inflammation. We present a unique case of a 50-year-old female with a history of miliary tuberculosis who developed gastrointestinal amyloidosis. The patient exhibited chronic loose stools, weight loss, abdominal pain, and urinary incontinence symptoms. Diagnostic workup revealed characteristic findings of amyloidosis on biopsy. Despite treatment for tuberculosis, her symptoms persisted, highlighting the challenging nature of managing this condition. This case underscores the importance of considering tuberculosis as a potential cause of secondary amyloidosis in patients with ongoing symptoms of inflammation and infection. Early recognition and tailored management are crucial in optimizing patient outcomes.

2.
Ann Med Surg (Lond) ; 86(4): 2253-2255, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38576978

ABSTRACT

Introduction and importance: Amyloidosis is an infiltrative disease caused by the deposition of abnormal proteins. While cardiac amyloidosis is relatively common, gastrointestinal (GI) tract involvement is less frequent. In this case, the authors report a delayed diagnosis of systemic amyloidosis presenting mainly with digestive symptoms. Case presentation: An 81-year-old male presented with the complaint of persistent diarrhoea for over a year and the progressive development of edemas during the last 4 months. Echocardiogram findings revealed the presence of the characteristic sparkling sign. The diagnosis of amyloidosis was confirmed by histopathological biopsies taken from the duodenum. Serum electrophoresis findings strongly suggested the possibility of plasma cell dyscrasia. Clinical discussion: What distinguishes this case is that the suspicion of amyloidosis as the underlying cause of the diarrhoea did not arise until an incidental echocardiogram revealed cardiac hypertrophy and a sparkling appearance. Conclusion: This case reminds us to consider amyloidosis as a possible underlying cause for unexplained gastrointestinal symptoms such as diarrhoea, especially in bad economic situations where the diagnosis of rare diseases may be delayed.

3.
J Investig Med High Impact Case Rep ; 12: 23247096241237759, 2024.
Article in English | MEDLINE | ID: mdl-38462925

ABSTRACT

Gastrointestinal amyloidosis is a rare condition commonly found in the setting of systemic AL amyloidosis. Amyloid can deposit throughout the gastrointestinal tract and the resulting symptoms vary depending on the site of deposition. Gastrointestinal (GI) manifestations can range from weight loss or abdominal pain, to more serious complications like gastrointestinal bleeding, malabsorption, dysmotility, and obstruction. This case describes a patient with known history of IgG lambda AL amyloidosis, presenting with epigastric pain and unintentional weight loss found to have gastroduodenal amyloidosis. The definitive diagnosis of GI amyloidosis requires endoscopic biopsy with Congo red staining and visualization under polarized light microscopy. There are currently no specific guidelines for the management of GI amyloidosis. Generally, the goal is to treat the underlying cause of the amyloidosis along with symptom management. Our patient is being treated with cyclophosphamide, bortezomib, and dexamethasone (CyBorD) and started on hemodialysis due to progression of renal disease.


Subject(s)
Amyloidosis , Immunoglobulin Light-chain Amyloidosis , Humans , Abdominal Pain , Amyloidosis/complications , Amyloidosis/diagnosis , Amyloidosis/pathology , Biopsy , Gastrointestinal Hemorrhage/etiology , Immunoglobulin Light-chain Amyloidosis/complications , Immunoglobulin Light-chain Amyloidosis/diagnosis , Weight Loss
4.
Article in English | MEDLINE | ID: mdl-37877048

ABSTRACT

Systemic amyloidosis has been reported in the context of injection drug use, usually related to ongoing chronic inflammation and persistent cutaneous infections. The kidneys are almost always the first organs affected in that setting. Involvement of the gastrointestinal tract is less common and rarely the initial site of presentation. We present a case of systemic amyloidosis that primarily manifested in the gastrointestinal tract, occurring in the setting of chronic injection drug use. The patient's hemoglobin level dropped progressively over time due to ongoing, slow gastrointestinal bleeding, prompting an endoscopic examination that ultimately confirmed the presence of gastrointestinal amyloidosis. As the overall prognosis for gastrointestinal amyloidosis is poor, early diagnosis and treatment are essential to decelerate the progression of the disease.

5.
Yonsei Med J ; 64(8): 526-529, 2023 Aug.
Article in English | MEDLINE | ID: mdl-37488705

ABSTRACT

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection has been associated with the overproduction of serum amyloid A protein, resulting in systemic AA amyloidosis. In this report, we describe a case of gastrointestinal (GI) AA amyloidosis following SARS-CoV-2 infection. A 75-year-old male presented to the emergency department with upper abdominal pain 6 weeks post kidney transplantation. He had a history of SARS-CoV-2 infection 4 weeks prior. On day 7 of hospitalization, while receiving conservative management, the patient developed symptoms of cough and fever, leading to a diagnosis of SARS-CoV-2 reinfection. The patient's abdominal pain persisted, and hematochezia developed on day 30 of hospitalization. Esophagogastroduodenoscopy and colonoscopy revealed multiple ulcers in the stomach and colon, with histologic findings revealing the presence of amyloid A. The patient was managed conservatively and was also given remdesivir for the SARS-CoV-2 infection. His clinical symptoms subsequently improved, and endoscopic findings demonstrated improvement in multiple gastric ulcers. GI amyloidosis may be a subacute complication following SARS-CoV-2 infection in immunocompromised patients.


Subject(s)
Amyloidosis , COVID-19 , Male , Humans , Aged , SARS-CoV-2 , Abdominal Pain
6.
Rev. esp. enferm. dig ; 114(7): 425-427, julio 2022. ilus, tab
Article in English | IBECS | ID: ibc-205683

ABSTRACT

Gastrointestinal involvement occurs in approximately 4% of cases of systemic amyloidosis. The most common site of amyloid deposition is small bowel, followed by stomach, colorectum and esophagus. Although rare, gastrointestinal amyloidosis may be associated with severe complications including gastrointestinal bleeding or perforation and may be mistaken for malignancy. (AU)


Subject(s)
Humans , Amyloidosis/complications , Amyloidosis/diagnostic imaging , Gastrointestinal Diseases/complications , Gastrointestinal Diseases/diagnostic imaging , Stomach/pathology , Patients
7.
World J Clin Cases ; 10(7): 2307-2314, 2022 Mar 06.
Article in English | MEDLINE | ID: mdl-35321167

ABSTRACT

BACKGROUND: Smoldering multiple myeloma (SMM) is an asymptomatic plasma cell proliferative disorder that can progress to multiple myeloma (MM). Amyloidosis (light chain) (AL) is the most common form of systemic amyloidosis. There are few reports of SMM coexisting with AL involving the digestive tract. CASE SUMMARY: A 63-year-old woman presented with lower limb edema, abdominal distension, abdominal pain, and hematochezia. Gastroscopy showed gastric retention, gastric angler mucosal coarseness, hyperemia, and mild oozing of blood. Colonoscopy showed hyperemic and edematous mucosa of the distal ascending colon and sigmoid colon with the presence of multiple round and irregular ulcers, submucosal ecchymosis, and hematoma. Gastric and colonic tissue biopsy confirmed the diagnosis of AL by positive Congo red staining. MM was confirmed by bone marrow biopsy and immunohistochemistry. The patient had no hypercalcemia, renal dysfunction, anemia, bone lesions or biomarkers of malignancy defined as plasma cells > 60% in bone marrow. Additionally, no elevated serum free light chain ratio, or presence of bone marrow lesions by magnetic resonance imaging (SLiM criteria) were detected. The patient was finally diagnosed with SMM coexisting with AL. She received chemotherapy and was discharged when the symptoms were relieved. She is doing well at nearly five years of follow up. CONCLUSION: This case highlights that high index of suspicion is required to diagnose gastrointestinal AL. It should be suspected in elderly patients with endoscopic findings of granular-appearing mucosa, ecchymosis, and submucosal hematoma. Timely diagnosis and appropriate therapy can help to improve the prognosis of these patients.

8.
Clin J Gastroenterol ; 15(1): 140-145, 2022 Feb.
Article in English | MEDLINE | ID: mdl-34797488

ABSTRACT

Diagnosis of gastrointestinal (GI) amyloidosis is often very difficult because of its nonspecific symptoms. However, a few reports have indicated that serious symptoms such as fatal GI bleeding and obstruction or perforation sometimes lead to a diagnosis of GI amyloidosis. A 79-year-old man was transported to our emergency department with a 1-week history of worsening abdominal pain. Abdominal contrast-enhanced computed tomography showed extravasation from part of the transverse colon wall and moderate ascites. Because intra-abdominal bleeding was suspected, the patient urgently underwent partial resection of the transverse colon, which was the source of the bleeding. Postoperative pathological examination of the tissue specimens led to a diagnosis of amyloid transthyretin amyloidosis. This is the first reported case in which intra-abdominal bleeding led to a diagnosis of GI amyloidosis. We should consider the possibility of GI amyloidosis when intraperitoneal bleeding is observed in elderly patients.


Subject(s)
Amyloid Neuropathies, Familial , Gastrointestinal Diseases , Aged , Amyloid Neuropathies, Familial/complications , Amyloid Neuropathies, Familial/diagnosis , Gastrointestinal Diseases/diagnosis , Gastrointestinal Hemorrhage/etiology , Humans , Male
9.
Clin J Gastroenterol ; 14(6): 1642-1648, 2021 Dec.
Article in English | MEDLINE | ID: mdl-34468921

ABSTRACT

Secondary amyloidosis is a rare complication of chronic inflammatory diseases, such as collagen diseases, and is often difficult to treat. In addition, the gastrointestinal tract is frequently involved in amyloid deposition that often results in various disorders and symptoms. A 70-year-old woman was admitted to our hospital with refractory diarrhea and hypoalbuminemia. Abdominal computed tomography demonstrated extensive edematous wall thickening of the small intestine and colon. Video capsule endoscopy revealed multiple ulcerations with a white mossy appearance of the ileum. Double-balloon endoscopy showed severe circumferential ulcers in the entire ileum. Histological examination of ileum biopsy samples revealed severe amyloid deposition in the lamina propria and perivascular areas of the submucosa. The patient was diagnosed with gastrointestinal AA amyloidosis. The cause of AA amyloid deposition was presumed to be chronic pyelonephritis due to ureteral stones that had been left untreated for 35 years. After treatment with ureteral drainage and antibiotics, the patient's symptoms and serological abnormalities improved dramatically. Here, we describe a case of severe gastrointestinal AA amyloidosis secondary to chronic pyelonephritis. Clinicians should thoroughly investigate the entire gastrointestinal tract in patients with refractory diarrhea and severe hypoalbuminemia considering the possibility of gastrointestinal amyloidosis.


Subject(s)
Amyloidosis , Hypoalbuminemia , Pyelonephritis , Aged , Amyloidosis/complications , Diarrhea/etiology , Female , Gastrointestinal Tract , Humans , Hypoalbuminemia/etiology
10.
Int J Health Sci (Qassim) ; 15(4): 50-52, 2021.
Article in English | MEDLINE | ID: mdl-34285688

ABSTRACT

Gastrointestinal (GI) tract manifestations of amyloid deposition include diarrhea, GI hemorrhage, steatorrhea, or constipation. Here, we report an elderly female presenting with GI hemorrhage due to gastric ulceration and 4-6 polypoidal lesions with intermittent ooze in the duodenum as a first presentation of primary systemic amyloidosis. The bleed was managed with proton-pump inhibitors and hemospray application. She received chemotherapy for multiple myeloma after stabilization. A high index of suspicion is needed to diagnose amyloidosis causing GI hemorrhage.

12.
BMC Gastroenterol ; 20(1): 219, 2020 Jul 11.
Article in English | MEDLINE | ID: mdl-32652937

ABSTRACT

BACKGROUND: Gastrointestinal (GI) amyloidosis is a rare complication of multiple myeloma (MM). Due to its nonspecific clinical presentation and endoscopic appearance, an early and accurate diagnosis of GI amyloidosis is difficult. Here, we report a case of GI amyloidosis due to MM, which initially presented as GI manifestations mimicking gastric cancer. CASE PRESENTATION: A 68-year-old woman presented to the hospital with a 6-month history of anemia, coupled with a recent onset of poor appetite and vomiting for 10 days. Esophagogastroduodenoscopy revealed a gastric antrum mucosal bulge that appeared on visual inspection to be a tumor. As a result, gastric cancer was suspected. However, gastric antrum biopsies demonstrated mild chronic superficial gastritis and esophageal biopsies demonstrated moderate-to-severe atypical hyperplasia of the squamous epithelium. A second endoscopy revealed massive gastric retention and a gastric antrum mucosal bulge with surface erosion. Ultimately, an upper GI tract biopsy demonstrating positive Congo red staining and a bone marrow biopsy indicating plasmacytosis confirmed the diagnosis of gastric amyloidosis due to MM. CONCLUSION: This case demonstrates that MM should be considered in patients with nonspecific GI manifestations, and in such cases, a biopsy with Congo red staining should be considered to confirm GI amyloidosis. Early detection of GI amyloidosis will ultimately improve outcomes for these rare patients.


Subject(s)
Amyloidosis , Multiple Myeloma , Stomach Neoplasms , Aged , Amyloidosis/diagnosis , Biopsy , Female , Humans , Multiple Myeloma/complications , Multiple Myeloma/diagnosis , Stomach Neoplasms/diagnosis
13.
Cureus ; 12(4): e7547, 2020 Apr 05.
Article in English | MEDLINE | ID: mdl-32377495

ABSTRACT

Amyloidosis is characterized by extracellular deposition of the amyloid protein. It can affect multiple organ systems but it most commonly affects the heart, kidney and gastrointestinal (GI) tract. It can occur sporadically or in association with other conditions like multiple myeloma, chronic inflammatory diseases, infections etc. Its involvement of the gastrointestinal tract is rare and diffuse. It has variable manifestations in GI tract from involving the stomach to the large bowel including liver. We present a case of 55 year old Caucasian male with recent diagnosis of multiple myeloma who presented with recurrent episodes of small bowel obstruction which was later found to be caused by amyloid deposition.

15.
Case Rep Gastroenterol ; 13(3): 462-467, 2019.
Article in English | MEDLINE | ID: mdl-31762736

ABSTRACT

Amyloidosis of the gastrointestinal tract is an uncommon disorder characterized by the extracellular deposition of an abnormal fibrillar protein. It is rarely proven by biopsy. Amyloid deposition interferes with organ structure and its function. We report a case of a 64-year-old male who presented with severe colicky pain, unable to pass feces, and progressive abdominal distension for 2 days. Physical examination revealed marked abdominal distension, visible peristalsis, high-pitched hyperactive bowel sounds, and generalized tenderness. Plain abdominal radiograph showed markedly diffuse disproportional dilatation of the small bowel with different heights of air-fluid levels in the same loop. Abdominal computed tomography showed an evidence of small bowel obstruction, which revealed no gross mass or cause of obstruction, but long segment narrowing of the terminal ileum was seen. Ileocolonoscopy showed diffuse edematous mucosa of the ileum without mechanical obstruction but loss of normal bowel peristalsis. A random biopsy of the ileum was performed for pathological diagnosis, which reported extensive deposits of amorphous material within the muscle layers and in the submucosal vessels that stained strongly with Congo red and displayed the typical apple-green birefringence of amyloid protein when viewed under plane polarized light. Serum electrophoretic tests disclosed a monoclonal band of IgG-kappa monoclonal protein. His clinical symptoms improved after receiving chemotherapy with melphalan and prednisolone. Our case illustrated the rare cause of acute intestinal obstruction which mimicked a surgical condition. Primary intestinal amyloidosis should be in a differential diagnosis in patients without a demonstrated cause of obstruction.

16.
Clin J Gastroenterol ; 12(3): 258-262, 2019 Jun.
Article in English | MEDLINE | ID: mdl-30574660

ABSTRACT

Amyloidosis is a syndrome involving amyloid protein deposition in various organs, resulting in organ dysfunction. Symptoms of gastrointestinal amyloidosis are usually nonspecific, such as diarrhea and body weight loss. We, here, report a patient who presented to the hospital with simultaneous hematemesis, melena, and intestinal pseudo-obstruction, leading to a diagnosis of primary gastrointestinal amyloidosis based on computed tomography (CT) and endoscopic findings. CT showed diffuse wall thickening from the duodenum to the jejunum, jejunal dilation, and fluid accumulation throughout the gastrointestinal tract. Upper gastrointestinal endoscopy revealed duodenal mucosal edema, jejunal dilation, and small hemorrhages from jejunal mucosal erosion. The definite diagnosis was done based on biopsy results. This report describes the early diagnosis of gastrointestinal amyloidosis based on CT and endoscopy findings.


Subject(s)
Amyloidosis/complications , Amyloidosis/diagnostic imaging , Duodenal Diseases/complications , Hematemesis/etiology , Intestinal Pseudo-Obstruction/etiology , Jejunal Diseases/complications , Melena/etiology , Aged, 80 and over , Endoscopy, Gastrointestinal , Female , Humans , Tomography, X-Ray Computed
17.
World J Clin Cases ; 6(9): 284-290, 2018 Sep 06.
Article in English | MEDLINE | ID: mdl-30211209

ABSTRACT

Here, we report a rare case of primary gastrointestinal amyloidosis in a stable condition after being followed up for three years. The patient was admitted to the hospital in 2014. Tests showed decreased levels of hemoglobin and ferritin. Transoral and transanal enteroscopy showed multiple nodular protuberances in the esophagus, ileum, colon and rectum. Endoscopic ultrasonography indicated the nodular protuberances stemmed from the submucosa and partially invaded the intrinsic myometrium. Pathological examinations found multiple small nodules in the submucosa and dyed structures, which were positive for special Congo red dyeing. After treatment with oral iron supplements, the levels of hemoglobin and ferritin became normal. It is concluded that the patient represents a case of primary gastrointestinal amyloidosis with multiple nodular protuberances in the digestive tract with controllable moderate abdominal discomfort and anemia and a benign course. Enteroscopy and endoscopic ultrasonography play an important role in the diagnosis of primary gastrointestinal amyloidosis.

18.
Case Rep Gastroenterol ; 12(2): 317-321, 2018.
Article in English | MEDLINE | ID: mdl-30022922

ABSTRACT

Systemic amyloidosis is a group of complex disorders characterized by the extracellular deposition of nonbranching fibrils in various tissues, ultimately leading to a variety of clinical presentations including isolated or multiorgan dysfunction. Amyloid involvement of the gastrointestinal tract is common depending on the subtype of this disease; light chain primary amyloidosis (AL) and secondary amyloidosis (AA) affect the gastrointestinal tract in unique ways due to differing pathophysiology. A case is reported of gastroparesis associated with AL amyloidosis diagnosed by esophagogastroduodenoscopy and study of gastric emptying, then subsequently confirmed by Congo red staining performed on endoscopic biopsies.

19.
Case Rep Gastroenterol ; 12(3): 737-746, 2018.
Article in English | MEDLINE | ID: mdl-30631261

ABSTRACT

Amyloid light-chain (AL) amyloidosis is associated with plasma cell disorder and monoclonal light chains. This type of amyloidosis is the prominent type involving the gastrointestinal tract. Monoclonal gammopathy of undetermined significance (MGUS) is the most common plasma cell disorder and a known precursor of more serious diseases. A 72-year-old male was treated for high blood pressure, diabetes, and gout at the clinic of a private physician. Due to a positive fecal occult blood test discovered during colon cancer screening, he underwent colonoscopy and was diagnosed with adenomatous polyps by biopsies. Two months later, he was referred to our hospital for endoscopic resection of the polyps. Although the polyps were successfully removed, a colonoscopy revealed two types of ulcerative lesions. Immunohistopathological evaluations obtained from these lesions and polyps confirmed amyloid deposition. Although esophagogastroduodenoscopy results were normal, a biopsy specimen from the patient's stomach showed the same type of amyloid deposition. Immunoelectrophoresis showed M-proteins for anti-IgG-λ in the serum and λ type Bence-Jones protein in the urine. His blood, bone marrow, and urine test results led to a diagnosis of MGUS. A coronary angiography revealed multivessel stenosis, and the patient's cardiac function improved after coronary artery stenting. Hereafter, a combination therapy with bortezomib, lenalidomide, and dexamethasone is planned. This is a case report of systemic AL amyloidosis caused by MGUS, which was incidentally detected by colonoscopy.

20.
Cureus ; 9(5): e1228, 2017 May 08.
Article in English | MEDLINE | ID: mdl-28611935

ABSTRACT

Gastrointestinal amyloidosis (GIA), a protein deposition disorder, represents a complex common pathway that encompasses multiple etiologies and presentations. It represents a significant diagnostic and treatment challenge. The disease results from the deposition of insoluble extracellular protein fragments that have been rendered resistant to digestion. GIA can be acquired or genetic, and most commonly results from chronic inflammatory disorders (AA amyloidosis), hematologic malignancy (AL amyloidosis), and end-stage renal disease (Beta-2 amyloidosis). The deposition of these abnormal proteins interferes with gastrointestinal tract (GI) organ structure and function, most notably in the liver and small bowel. Presentation from GI involvement includes cirrhotic sequelae, abdominal pain, malabsorption, and GI bleeding. Diagnosis hinges on pathologic examination of affected tissue, with classic green birefringence under polarized light. Abdominal fat pad and rectal mucosal biopsy have been described as sites of higher sensitivity for diagnosis. Serum amyloid P scintigraphy is near 90% sensitive for diagnosis of AA amyloidosis. Patients should be considered for further evaluation to rule out additional organ involvement, notably cardiac and renal. Treatment hinges on an adequate suppression of the predisposing inflammatory disorder, or malignancy, followed by supportive therapy. Prognosis varies depending on the etiology of the disease, with the AL subtype showing worse outcomes, as well as those with hepatic involvement.

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