Gastrointestinal amyloidosis: Clinical manifestations, diagnosis, and management
- Michael Camilleri, MD
Michael Camilleri, MD
- Professor of Medicine, Pharmacology, and Physiology
- Mayo Clinic College of Medicine
Amyloidosis is a generic term that refers to the extracellular tissue deposition of fibrils composed of low molecular weight subunits (5 to 25 kD) of a variety of serum proteins, many of which circulate as constituents of plasma . The subunit proteins forming amyloid deposits are derived from soluble precursors which have undergone conformational changes that lead to the adoption of a predominantly antiparallel beta-pleated sheet configuration. These fibrils can be identified on biopsy specimens both by their characteristic appearance on electron microscopy and by their ability to bind Congo red (leading to green birefringence under polarized light) and thioflavine T (producing an intense yellow-green fluorescence). These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition.
This topic will review the clinical manifestations, diagnosis, and management of gastrointestinal amyloidosis. A general overview of the genetics, pathogenesis, clinical manifestations, diagnosis, and treatment of the different amyloid disorders is discussed in detail, separately. (See "Genetic factors in the amyloid diseases" and "Overview of amyloidosis" and "Renal amyloidosis" and "Clinical manifestations and diagnosis of amyloid cardiomyopathy" and "Treatment of amyloid cardiomyopathy" and "Clinical presentation, laboratory manifestations, and diagnosis of immunoglobulin light chain (AL) amyloidosis (primary amyloidosis)" and "Dialysis-related amyloidosis" and "Musculoskeletal manifestations of amyloidosis".)
TYPES OF AMYLOID
There are several major forms of amyloidosis. Nomenclature for amyloid subunit proteins includes the letter "A," followed by the abbreviation of the name of the precursor protein . (See "Overview of amyloidosis", section on 'Types of amyloidosis'.)
The most common causes of systemic amyloid deposition are as follows:
●AL amyloid, caused by a plasma cell dyscrasia, is due to deposition of protein derived from immunoglobulin light chain fragments.
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- TYPES OF AMYLOID
- CLINICAL MANIFESTATIONS
- Clinical presentation
- - Gastrointestinal tract amyloidosis
- - Hepatic amyloidosis
- Imaging findings
- DIFFERENTIAL DIAGNOSIS
- Symptomatic treatment
- Treatment of the underlying disorder
- SUMMARY AND RECOMMENDATIONS