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For further information, see CMDT Part 15-27: Malabsorption

Key Features

Essentials of Diagnosis

  • Typical symptoms

    • Weight loss

    • Chronic diarrhea

    • Abdominal distention

    • Growth retardation

  • Atypical symptoms

    • Dermatitis herpetiformis

    • Iron deficiency anemia

    • Osteoporosis

  • Abnormal serologic test results

  • Abnormal small bowel biopsy

  • Clinical improvement on gluten-free diet

General Considerations

  • Caused by an immunologic response to gluten that results in diffuse damage to the proximal small intestinal mucosa with malabsorption of nutrients

  • Gluten is a storage protein found in certain grains that is partially digested in the intestinal lumen into glutamine-rich peptides

  • Most cases present in childhood or adulthood, although symptoms may manifest between 6 and 24 months of age

Demographics

  • Global prevalence is 1.4%

  • In North America, the prevalence of biopsy-confirmed disease is 0.5%

Clinical Findings

Symptoms and Signs

  • "Classic" symptoms of malabsorption more commonly present in infants (< 2 years)

    • Diarrhea

    • Steatorrhea

    • Weight loss

    • Abdominal distention

    • Weakness

    • Muscle wasting

    • Growth retardation

  • Older children and adults are less likely to manifest signs of serious malabsorption but may report

    • Chronic diarrhea

    • Dyspepsia

    • Flatulence

    • Variable weight loss

  • Many adults have minimal or no gastrointestinal symptoms but present with extraintestinal "atypical" manifestations

    • Fatigue

    • Depression

    • Iron-deficiency anemia

    • Osteoporosis

    • Short stature

    • Delayed puberty

    • Amenorrhea or reduced fertility

  • Physical examination

    • In mild cases: may be normal

    • In more severe cases: may reveal signs of malabsorption, loss of muscle mass or subcutaneous fat, pallor, easy bruising, hyperkeratosis, or bone pain

  • Abdominal examination may reveal distention with hyperactive bowel sounds

  • Dermatitis herpetiformis in < 10%

Differential Diagnosis

  • Irritable bowel syndrome

  • Malabsorption due to other causes

  • Lactase deficiency

  • Viral gastroenteritis, eosinophilic gastroenteritis

  • Whipple disease

  • Giardiasis

  • Mucosal damage caused by acid hypersecretion associated with gastrinoma

  • Non-celiac gluten sensitivity

    • Frequency and cause of this entity is debated

    • A large 2013 study found that symptoms improved in gluten-sensitive patients when placed on a FODMAP-restricted diet and worsened to similar degrees when challenged in a double-blind crossover trial with gluten or whey proteins

    • These data suggest that non-celiac gluten sensitivity may not be a true entity and that the symptom improvement reported by patients with gluten restriction may be due to broader FODMAP elimination

Diagnosis

Laboratory Tests

  • Obtain complete blood count, prothrombin time, serum albumin, iron or ferritin, calcium, alkaline phosphatase, red cell folate, vitamins B12, A, and D levels

  • Iron deficiency or megaloblastic anemia occurs because of iron or folate or vitamin B12 malabsorption

  • Elevation of prothrombin time due to vitamin K deficiency

  • Other deficiencies may include zinc and vitamin B6

  • Serologic tests should be performed in all patients

    • IgA tissue transglutaminase (IgA tTG) antibody is recommended; has a 95% sensitivity and 95% specificity for detecting celiac disease

    • Antigliadin antibodies are not recommended because ...

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