Gastrointestinal amyloidosis - clinical features, diagnosis and therapy

Background Amyloidosis is one of the unusual diseases about which a physician may not think when it is affecting the patient. During the last three decades, there has been an enormous progress in the understanding of the chemical nature, classification, pathogenesis, clinical features, diagnostic measures and therapy of this disorder. Aim To provide an updated review of amyloidosis affecting the gastrointestinal tract. Methods Review of current medical literature. Results Amyloid proteins (irrespective of the type) can deposit in various parts of the gastrointestinal tract and liver resulting in symptoms of abdominal pain, dysmotility, diarrhoea, gastrointestinal bleeding, hepatomegaly and even portal hypertension with its associated complications. Definitive diagnosis can only be made by histological examination of the affected organ. Disease modifying treatment with high-dose chemotherapy followed by autologous stem-cell transplantation has shown promise. Liver transplantation is an option for a select group of patients. Conclusions Suspicion of gastrointestinal amyloidosis in patients without known history of amyloidosis is difficult, but should be considered in those older than 30 years with unexplained diarrhoea, weight loss, autonomic dysfunction, malabsorption or proteinuria. While most gastrointestinal complications are managed symptomatically, causal therapy is reserved for a select few from various subtypes of this disorder.