Gastrointestinal amyloidosis: A focused review

Area of Science:

• Biochemistry
• Pathology
• Gastroenterology

Background:

• Amyloidosis is a rare disease characterized by extracellular deposition of misfolded proteins in tissues.
• Over 60 amyloidogenic proteins are known, with 27 linked to human diseases, causing tissue distortion.
• Gastrointestinal (GI) tract and liver involvement are common in both systemic and localized amyloidosis.

Purpose of the Study:

• To review the epidemiology, pathogenesis, clinical features, diagnosis, and treatment of GI amyloidosis.
• To provide a comprehensive overview of amyloidosis subtypes with a focus on GI manifestations.
• To highlight diagnostic challenges and therapeutic strategies for GI amyloidosis.

Main Methods:

• Literature review of amyloidosis subtypes, focusing on GI involvement.
• Analysis of epidemiological data, pathogenesis mechanisms, and clinical presentations.
• Evaluation of diagnostic methods, including biopsy and Congo Red staining, and treatment strategies.

Main Results:

• Amyloidosis presents heterogeneously with varied etiologies and manifestations.
• Diagnosis relies on tissue biopsy and Congo Red staining, though not always definitive.
• Treatment includes observation, surgical excision for localized disease, and addressing systemic causes.

Conclusions:

• GI amyloidosis requires a thorough diagnostic approach, potentially involving gastroenterology referral.
• Treatment strategies are tailored to disease localization and underlying systemic pathology.
• Further research is needed to understand the exact incidence and prevalence of amyloidosis.