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Related Experiment Video

Updated: Nov 7, 2025

Performing and Processing FNA of Anterior Fat Pad for Amyloid

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Secondary Amyloidosis Presenting as Ischemic Proctitis.

Saad Hashmi¹, Assad Munis², Ryan T Hoff²

¹Advocate Lutheran General Hospital, Department of Internal Medicine, Park Ridge, IL, USA.

Case Reports in Gastrointestinal Medicine

|April 30, 2021

Summary

This study details a rare case of AA amyloidosis presenting with gastrointestinal symptoms. Diagnosis required specialized staining of biopsies, highlighting the importance of considering amyloidosis in unexplained weight loss and bleeding.

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Area of Science:

Gastroenterology
Nephrology
Genetics

Background:

Gastrointestinal amyloidosis is an uncommon condition.
AA amyloidosis is associated with chronic inflammation.
Familial Mediterranean Fever (MEFV) gene variants can influence amyloidosis risk.

Observation:

A 49-year-old man with obesity and gout presented with abdominal pain, rectal bleeding, and significant weight loss.
Imaging revealed rectal wall thickening, and colonoscopy showed proctitis with ulcerations.
Renal insufficiency and low-voltage ECG complexes prompted consideration of amyloidosis.

Findings:

Rectal, renal, and gallbladder biopsies confirmed amyloid deposition, establishing a diagnosis of AA amyloidosis.
The patient had a heterozygous complex variant in the MEFV gene, potentially linked to gout and obesity, contributing to AA amyloidosis.
Amyloid deposition in the gallbladder and rectum is exceptionally rare.

Implications:

This case underscores the need for heightened awareness of atypical amyloidosis presentations.
Diagnostic protocols should include specific staining for amyloid in relevant biopsies.
Early diagnosis of gastrointestinal amyloidosis enables targeted therapeutic strategies.