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Lactose intolerance occurs when there is a deficiency of lactase in the brush border of the small intestine. When a person with lactase deficiency ingests lactose, the poorly digested lactose is fermented in the small and large intestines, resulting in abdominal bloating, discomfort, or diarrhea ( Fig. 63.1 ).
Lactose, a disaccharide sugar found in milk, is a structural combination of glucose and galactose. Holzel described defective lactose absorption, which resulted in infant disease in 1959. Later, the clinical picture was also noted in adults.
The incidence of lactose intolerance varies throughout the world. Rates are 85% to 100% in persons of African and Asian descent, 40% to 90% in those of Mediterranean descent, and 5% to 20% in persons of English and Nordic descent. Initially the great ethnic and racial differences were thought to occur because of adaptation, but now genetic differences are believed to be the probable cause.
When lactose is digested, it is normally hydrolyzed in the small intestine. The lactase level appears to fall below 3 U/g tissue for intestinal protein in symptomatic lactase-deficient patients. When the intestinal microflora ferment the lactose, they produce tannic acids, lactic acid, carbon dioxide, and hydrogen. In addition, lactose itself has an osmotic effect in the colon.
The clinical picture varies with the amount of lactose ingested and malabsorbed and the degree of the lactase deficiency. Some patients develop clinical symptoms when they consume very small amounts of lactose, whereas others are less sensitive. Relating this to actual intake of food, some subjects can tolerate a glass of milk, whereas others cannot. The basis for the lactose tolerance test is 50 g of lactose, which would be the equivalent of four glasses of milk. Relating this to symptoms, some subjects may never have diarrhea, whereas others will have a violent episode. Those without diarrhea may have mild discomfort, bloating, or cramps after ingesting lactose.
Many persons are lactose intolerant but are unaware of the degree of deficiency. In addition, many are thought to have irritable bowel syndrome (IBS; see Chapter 61 ). Any patient with postprandial symptoms should undergo lactose tolerance testing.
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