Lactose intolerance diagnostic study of choice

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Mahda Alihashemi M.D. [2] [3] [4]

Overview

Small bowel biopsy such as jejunal or duodenal biopsy is the gold standard test for the diagnosis of lactose intolerance. Low lactase activity in small bowel biopsy is confirmatory of lactose intolerance.The diagnostic study of choice for lactose intolerance is lactose breath hydrogen test. Lactose intolerance is diagnosed based on a rise in hydrogen concentration of 20 ppm ( parts per million) and the presentation of symptoms such as bloating, diarrhea and abdominal pain.

Diagnostic Study of Choice

Gold standard/Study of choice:

Small bowel biopsy

Lactose breath hydrogen test

  • The diagnostic study of choice for lactose intolerance is lactose breath hydrogen test. Following are a few important aspects related to lactose breath hydrogen test:[3][4]
    • It is a noninvasive investigation
    • In adults, 50 g of lactose in water (equivalent to that in 1 L of milk), while in children, 2 g/kg of lactose (maximum dose 25 g) is administered in fasting state.[5]
    • Breath hydrogen level and associated symptoms such as bloating, diarrhea and abdominal pain are checked at baseline and at 30 minute intervals for three hours.
    • Lactose malabsorption and intolerance are diagnosed based on a rise in hydrogen concentration of 20 ppm (parts per million) and the presentation of symptoms compared to baseline.
    • Undigested lactose is fermented by intestinal flora to carbon dioxide, hydrogen and methane and then they are eliminated via the lungs.
    • False negative result is due to:
      • Taking antibiotics within the previous month
      • Inhibition of bacterial activity by the more acidic environment of colon
      • Underlying lung disease
    • False positive result

The comparison table for diagnostic studies of choice for lactose intolerance[7][8][9]

Name of Investigation Sensitivity Specificity
 Lactose breath hydrogen test 88 85
Genetic test for primary lactase deficiency 88 90
Endoscopic duodenal biopsy 95 100
Lactose tolearance test 94 90

Diagnostic Criteria

There are no established criteria for the diagnosis of lactose intolerance. However, investigations such as lactose breath hydrogen test and small bowel biopsy can be very helpful in the diagnosis of lactose intolerance.

References

  1. Mattar R, de Campos Mazo DF, Carrilho FJ (2012). "Lactose intolerance: diagnosis, genetic, and clinical factors". Clin Exp Gastroenterol. 5: 113–21. doi:10.2147/CEG.S32368. PMC 3401057. PMID 22826639.
  2. Scrimshaw NS, Murray EB (1988). "The acceptability of milk and milk products in populations with a high prevalence of lactose intolerance". Am. J. Clin. Nutr. 48 (4 Suppl): 1079–159. PMID 3140651.
  3. Law D, Conklin J, Pimentel M (2010). "Lactose intolerance and the role of the lactose breath test". Am. J. Gastroenterol. 105 (8): 1726–8. doi:10.1038/ajg.2010.146. PMID 20686460.
  4. Ghoshal UC (2011). "How to interpret hydrogen breath tests". J Neurogastroenterol Motil. 17 (3): 312–7. doi:10.5056/jnm.2011.17.3.312. PMC 3155069. PMID 21860825.
  5. Scrimshaw NS, Murray EB (1988). "The acceptability of milk and milk products in populations with a high prevalence of lactose intolerance". Am. J. Clin. Nutr. 48 (4 Suppl): 1079–159. PMID 3140651.
  6. Ghoshal UC, Ghoshal U, Das K, Misra A (2006). "Utility of hydrogen breath tests in diagnosis of small intestinal bacterial overgrowth in malabsorption syndrome and its relationship with oro-cecal transit time". Indian J Gastroenterol. 25 (1): 6–10. PMID 16567886.
  7. Kuokkanen M, Myllyniemi M, Vauhkonen M, Helske T, Kääriäinen I, Karesvuori S, Linnala A, Härkönen M, Järvelä I, Sipponen P (2006). "A biopsy-based quick test in the diagnosis of duodenal hypolactasia in upper gastrointestinal endoscopy". Endoscopy. 38 (7): 708–12. doi:10.1055/s-2006-925354. PMID 16761211.
  8. Marton A, Xue X, Szilagyi A (2012). "Meta-analysis: the diagnostic accuracy of lactose breath hydrogen or lactose tolerance tests for predicting the North European lactase polymorphism C/T-13910". Aliment. Pharmacol. Ther. 35 (4): 429–40. doi:10.1111/j.1365-2036.2011.04962.x. PMID 22211845.
  9. Mattar R, de Campos Mazo DF, Carrilho FJ (2012). "Lactose intolerance: diagnosis, genetic, and clinical factors". Clin Exp Gastroenterol. 5: 113–21. doi:10.2147/CEG.S32368. PMC 3401057. PMID 22826639.