[Gastrointestinal amyloidosis - retrospective analysis based on data of a center in Budapest].

Introduction

In case of amyloidosis, an abnormal protein is formed which deposits and leads to dysfunction. Any organ can be affected. The most common digestive system symptoms are gastrointestinal dysmotility, dysphagia, satiety, gastroparesis, bleeding and constipation.

Objective

Review of amyloidosis patients with gastrointestinal involvement treated at Semmelweis University, taking symptoms, endoscopic and histological results into account. Method: 15 amyloidosis patients with gastrointestinal involvement treated between 2009 and 2024 were collected using the hospital’s computerized registry system.

Results

In 12 patients, amyloid light chain amyloidosis was confirmed, while transthyretin amyloidosis variant was described in 1 case, lysozyme amyloidosis in 1, and amyloid A amyloidosis in 1 patient. The median age at diagnosis and death was 65 years, reflecting the late-stage diagnosis, and the high Mayo-score (mean value: 2.67) predicted a poor prognosis for light chain amyloidosis. Other affected organs were heart (73.3%), kidneys (33.3%) and peripheral nerves (40%). The leading gastrointestinal symptoms were unintentional weight loss (20%), dysphagia (6.6%), hematochezia (6.6%), abdominal pain (6.6%), and diarrhea (6.6%). Common laboratory findings were anemia and chronic renal failure, while the most frequently described gastroscopic abnormalities were gastroduodenitis, gastroparesis, ulcers and polypoid formations. Discussion: A clear understanding of the mechanisms underlying gastrointestinal dysfunction is still lacking. Gastroparesis, diarrhea, polyneuropathy, and malabsorption can occur as a result of dysfunction resulting from amyloid deposition that damages blood vessels and nerves. Abnormalities seen during endoscopy may correspond to those seen in amyloidosis, and ulcers may be the source of hematochezia, occult bleeding, and anemia.

Conclusion

Systemic amyloidosis is a disease with a poor prognosis that can affect many organs. The symptoms, laboratory parameters and endoscopic findings are varied, but not specific, so close cooperation of the allied professions is essential for the fastest diagnosis. Orv Hetil. 2025; 166(9): 351–358.