Malabsorption syndromes are common in family medicine but may be overlooked because of a wide variation in presentation. Classic symptoms include diarrhea, steatorrhea, weight loss, flatulence, and postprandial abdominal pain. Nongastrointestinal manifestations can include elevated levels of liver function markers, anemia, skin conditions, infertility, and bone disease. Associated conditions include lactose intolerance, celiac disease, and exocrine pancreatic insufficiency. Testing should include screening for anemia. A standard test for lactose intolerance is the hydrogen breath test; however, formal testing typically is not required for diagnosis. The diagnosis of celiac disease depends on serologic testing, histologic findings on duodenal biopsy, or both. Patients should not restrict their diets before testing for malabsorption syndromes. If the initial evaluation is negative for celiac disease, other conditions should be considered, including nonceliac gluten sensitivity, irritable bowel syndrome, and fermentable oligosaccharides, disaccharides, monosaccharides, and polyols (FODMAPs) intolerance. Therapies for patients with malabsorption syndromes involve dietary modification. A lactose-restricted diet and use of dairy substitutes are recommended for lactose intolerance. A gluten-free diet is the primary intervention for celiac disease. Pancreatic enzyme replacement therapy and replacement of fat-soluble vitamins are the primary therapies for management of exocrine pancreatic insufficiency.
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