Localized intestinal amyloidosis – rare presentation of a rare disease

We report the case of a 70-year-old male with a history of arterial hypertension and asthma, who presented to the Gastroenterology outpatient clinic with chronic diarrhea and weight loss. Upper gastrointestinal endoscopy was significant for duodenal erythema and mucosal irregularity, and biopsies were positive for amyloidosis. Subsequent investigation was completely negative: no monoclonal spikes on electrophoresis, normal light chains and immunoglobulins, no albuminuria, no complement consumption, negative viral serologies, and no evidence of systemic inflammation. Transthoracic echocardiogram and toracoabdominal CT were also unremarkable. Transthyretin genetic testing was negative. Finally, abdominal fat biopsy did not reveal amyloid deposition. Thus, the diagnosis of localized intestinal amyloidosis was made.

Amyloidosis results from extracellular deposition of abnormal proteins in several tissues, causing organ dysfunction. There 6 main types of amyloidosis: primary/light chain, secondary/amyloid A, hemodialysis-associated, hereditary, senile and localized. In systemic amyloidoses, the gastrointestinal tract can be affected in 4% of cases and seems to be associated with a worse prognosis. Localized amyloidosis is a rare variant of the disease, with nonspecific clinical manifestations. Prognosis is generally better when compared to the systemic forms, and there are no known cases of progression to these variants. Follow-up consists of symptomatic control [1] [2] [3].

Publication History

Article published online:
27 March 2025

• References

• 1 Nienhuis H.L.A., Bijzet J., Hazenberg B.P.C.. ‘The Prevalence and Management of Systemic Amyloidosis in Western Countries’. Kidney Dis (Basel) 2 (no. 1) pp 10-19 2016;
• 2 Dahiya D.S., Kichloo A., Singh J., Albosta M., Wani F.. ‘Gastrointestinal amyloidosis: A focused review’. WJGE 13 (no. 1) pp 1-12 2021;
• 3 Almushait Y.B., Syed F., Abbasi S.U., Alhussaini H.F., Alsohaibani F.I.. ‘Gastroduodenal amyloidosis: a case report and review of literature’. Journal of Surgical Case Reports 2021 (no. 4) p rjab093 2021;