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Systemic amyloidosis and the gastrointestinal tract

Nature Reviews Gastroenterology & Hepatology volume 6, pages 608–617 (2009)Cite this article

Abstract

Systemic amyloidosis is characterized by the extracellular deposition of protein in an abnormal fibrillar form. Several different types of amyloidosis exist, each defined by the identity of their respective fibril precursor protein. Among patients with systemic amyloidosis, histological involvement of the gastrointestinal tract is very common but is often subclinical. Conversely, primary diseases of the gastrointestinal tract can cause systemic amyloidosis; for example, AA amyloidosis can occur secondary to IBD. The presence and pattern of gastrointestinal symptoms varies substantially, not only between the different types of amyloidosis but also within them. Typical clinical presentations, most of which are nonspecific, include macroglossia, hemorrhage, motility disorders, disturbance of bowel habit and malabsorption. Endoscopic and radiological features are also nonspecific, with the small intestine most commonly affected. Currently, the aim of therapy for amyloidosis is to slow amyloid formation by reducing the abundance of the fibril precursor protein. No specific treatments for the gastrointestinal symptoms of systemic amyloidosis are available; however, case reports and small published series encourage nutritional support for patients with motility disorders and pharmacological agents for treatment of diarrhea. Surgical procedures should be contemplated only in an emergency setting because of the risk of decompensation of organs affected by amyloid deposition.

Key Points

  • Amyloidosis is a multisystem disease caused by extracellular deposition of protein in an abnormal fibrillar form

  • Gastrointestinal manifestations and malnutrition are common and multifactorial in etiology and have a negative impact on quality of life and survival

  • Endoscopic and radiological features of gastrointestinal amyloid deposition are nonspecific

  • Treatment of amyloidosis aims to reduce the abundance of the respective precursor protein that forms amyloid fibrils (for example, administration of anti-inflammatory drugs, chemotherapy or liver transplantation)

  • Intensive nutritional support and nonspecific supportive measures are recommended for gastrointestinal complications

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Figure 1: Massive macroglossia in a patient with systemic AL amyloidosis.
Figure 2: Congo red staining of amyloid deposits in duodenal submucosal vessels a | viewed under brightfield microscopy and b | cross-polarized light, which reveals pathognomonic apple green birefringence.
Figure 3: Serum amyloid P component scintigraphy in patients with systemic amyloidosis.
Figure 4: Endoscopic appearance of gastric ulceration secondary to hereditary lysozyme amyloidosis.

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  1. Division of Medicine (Royal Free Campus), National Amyloidosis Centre, Centre for Amyloidosis and Acute Phase Proteins, University College London Medical School, London, UK

    Prayman T. Sattianayagam, Philip N. Hawkins & Julian D. Gillmore

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Correspondence to Julian D. Gillmore.

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Sattianayagam, P., Hawkins, P. & Gillmore, J. Systemic amyloidosis and the gastrointestinal tract. Nat Rev Gastroenterol Hepatol 6, 608–617 (2009). https://doi.org/10.1038/nrgastro.2009.147

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