Patient with primary systemic amyloidosis presenting with intractable diarrhoea

Abstract

Introduction: Primary systemic amyloidosis is the most common form of systemic amyloidosis. Clinical presentation commonly involves organs such as the kidney and heart. We report on a patient with systemic amyloidosis presenting as intractable diarrhoea. Numerous investigations had to be done before the diagnosis could be made highlighting the challenge in making a diagnosis due to the slow progression of the disease. This report is to increase awareness among physicians of this diagnosis and to emphasise the importance of identifying patients quickly. Case Presentation: A 63 year old male was admitted with a six months history of intractable, watery diarrhoea, anorexia and progressive renal failure. He had been investigated for proteinuria and deranged renal function prior to admission but no therapy was suggested and the diagnosis at that time was inconclusive. Extensive laboratory and radiological investigations were done. The diagnosis of systemic amyloidosis was made on serum free light chains which showed excess lambda chains and a terminal iliac and colonic biopsy which revealed eosinophilic thickening of the blood vessels with positive Congo red stain. Unfortunately the patient died prior to definitive management for the amyloidosis. Conclusion: This case emphasises the importance of early recognition of systemic amyloidosis so that management can be instituted.