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Differential diagnosis and investigation of malabsorption 

Differential diagnosis and investigation of malabsorption

Differential diagnosis and investigation of malabsorption

Julian R.F. Walters


November 30, 2011: This chapter has been re-evaluated and remains up-to-date. No changes have been necessary.

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date: 28 April 2017

Malabsorption by the gastrointestinal tract results in excess loss of dietary nutrients in the faeces and, if dietary intake does not increase to compensate, nutritional deficiency in the body. Digestion and absorption involve multiple processes in the entire gastrointestinal tract and hence a large number of different conditions can result in specific or generalized patterns of malabsorption.

The diagnosis of malabsorption is often missed until it is advanced. There may be nonspecific symptoms such as loss of weight, lassitude, and weakness; changes in the nature of the stool or frequency of bowel habit are not invariable. Examination may reveal poor general nutritional status and features of specific deficiencies, e.g. anaemia.

Commonly obtained haematological and biochemical investigations can show abnormalities—e.g. anaemia; low serum iron, transferrin saturation, vitamin B12, and folate—but deficiency can be due to malnutrition, maldigestion (usually from pancreatic insufficiency), or malabsorption.

Coeliac disease, one of the commonest causes of malabsorption, is now easily screened for by specific serology for tissue transglutaminase (tTG) antibodies. Endoscopy to obtain intestinal histology, imaging, and certain function tests (see Chapter 15.3.4) are necessary to make alternative diagnoses.

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