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Updated: Jul 1, 2025

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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
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Gastroduodenal Involvement in AL Amyloidosis: Case Report and Literature Review
Rajarajeshwari Ramachandran1, Tyler Grantham2, Giovannie Isaac-Coss1
1Brooklyn Hospital Center, NY, USA.
Journal of Investigative Medicine High Impact Case Reports
|March 11, 2024
Summary
Gastrointestinal amyloidosis, a rare condition often linked to systemic AL amyloidosis, can cause diverse GI symptoms. Diagnosis involves biopsy, and management focuses on treating the underlying cause and symptoms.
Area of Science:
- Gastroenterology
- Hematology
- Pathology
Background:
- Gastrointestinal amyloidosis is a rare manifestation of systemic AL amyloidosis.
- Amyloid deposition in the GI tract leads to varied symptoms, including pain, weight loss, bleeding, malabsorption, dysmotility, and obstruction.
Approach:
- This case report details a patient with IgG lambda AL amyloidosis presenting with epigastric pain and weight loss.
- Gastroduodenal amyloidosis was diagnosed via endoscopic biopsy, Congo red staining, and polarized light microscopy.
Key Points:
- Definitive diagnosis of GI amyloidosis requires specific histopathological examination.
- Management strategies are not standardized but generally involve treating the underlying systemic cause and managing GI symptoms.
- The patient received cyclophosphamide, bortezomib, and dexamethasone (CyBorD) and initiated hemodialysis for renal disease progression.
Conclusions:
- Gastrointestinal amyloidosis presents a diagnostic and management challenge.
- Multidisciplinary care is essential for patients with systemic amyloidosis and GI involvement.
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