Amyloidosis in our region – Apropos of a rare intestinal manifestation case

Introduction: Amyloidosis is a disease caused by the extracellular deposition of autologous proteins with irregular structure. Classification is based on the precursor and produced amyloid proteins, whereas clinically systemic and local forms of the disease are known. Within the systemic form, the gastrointestinal system is affected in 60% of the secondary reactive AA cases and 1–8% of the primary AL cases.

No reliable epidemiological data are available on the disease; its prevalence is estimated to be 5–12 patients per 1 million inhabitants per year in the western population with a characteristic dominance of male patients (60–65%).

Patients and results: We have diagnosed amyloidosis in 12 patients of our hospital in the last 7 years, our prevalence is less than 5 patients per 1 million inhabitants per year. the diagnosis was mainly made post mortem. 9 systemic (3 primary AL and 6 secondary AA) and 3 localized cases (amyloid goiter, cardiac amyloidosis and one in the skin) of amyloid deposition could be verified.

Our most recently diagnosed case was a 38-year old male patient with medical history of autoimmune chronic destructive arthritis and sustained steroid treatment. The patient was admitted to our hospital with signs of acute abdomen. The performed surgery revealed small intestinal perforation and diffuse peritonitis. In the postoperative period the patient required transfusions for hematochesia, therefore a colonoscopy was performed which revealed ischemic colitis. Histological examination of the biopsies taken during the surgery and the endoscopy found extensive AA-type amyloid deposition in the wall of submucous vessels causing significant stenosis and obstruction with subsequent ischemic lesions and perforation. Due to worsening abdominal condition a relaparotomy and repeated intestinal resection was performed. After that the patient died of sepsis and multiorgan failure.

Conclusion: Our case report aimed to draw attention to a considerable possibility of gastrointestinal amyloidosis of patients in their thirties which is a great diagnostic challenge to recognize.