Review article: gastrointestinal amyloidosis – clinical features, diagnosis and therapy

Abstract

Summary 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.

Localized Tongue Amyloidosis in a Patient with Neurofibromatosis Type II

“…Disease severity ranges from asymptomatic to severe, lifethreatening [4,7,25]. Beyond the initial symptoms like fatigue and weight loss, organs such as heart [26], kidney [27], gastrointestinal, liver, spleen [28] and nervous system (central and peripheral) [29] may involved with severe consequences.…”

Guidelines on the management of AL amyloidosis

“…Gastrointestinal dysmotility usually presents with delayed transit and a mixture of loss of appetite, gastro-oesophageal reflux, dysphagia, nausea, vomiting due to gastroparesis, constipation or even chronic intestinal pseudo-obstruction (Petre et al, 2008). Diarrhoea can be due to bacterial overgrowth and a lactose breath test or empirical antibiotics should be considered.…”

Mechanical Bowel Obstruction Due to Localized Extensive Amyloidotic Involvement in the Left Colon

“…Imaging reveals a normal bowel in most cases, but nonspecific changes such as bowel wall thickening or dilatation, or both may be seen [4]. Endoscopically, the findings of the gastrointestinal tract are nonspecific and include erythema, erosions/ulcerations, granular or plaque-like mucosa of the stomach or small Fig.…”

“…Affected patients may present with nausea, vomiting, gastrointestinal bleeding, malabsorption, or rarely obstruction. In patients older than 30 years with unexplained diarrhea, weight loss, autonomic dysfunction, malabsorption, or proteinuria, amyloidosis has to be considered [4].…”