Lactose Tolerance Test: Purpose and Procedure
The hydrogen breath test is the most widely used and recommended method for diagnosing lactose intolerance, as it is non-invasive, relatively inexpensive, and has good sensitivity and specificity compared to other available tests. 1
Purpose of the Lactose Tolerance Test
- The lactose tolerance test aims to diagnose lactose malabsorption, which occurs when there is reduced expression or activity of lactase enzyme in the small intestine 2
- It helps identify patients who may benefit from dietary modifications, particularly those who regularly consume more than 0.5 pint (280 ml) of milk or equivalent dairy products daily 3
- The test distinguishes between true lactose intolerance and other conditions with similar symptoms, such as irritable bowel syndrome 1
- It's particularly useful in populations with high prevalence of lactase deficiency, which affects approximately 68% of the world's population and approaches 100% in some ethnic groups like the Han Chinese 3
Procedure of the Hydrogen Breath Test (Most Common Method)
- The patient fasts overnight before the test 1
- 25-50g of lactose dissolved in 200-500ml of water is ingested by the patient 3
- End-expiratory breath samples are collected at 15-30 minute intervals for three hours 3
- A rise in hydrogen concentration from baseline levels by more than 20 parts per million indicates a positive diagnosis 3
- Symptoms are monitored during the test, including abdominal pain, bloating, flatulence, and diarrhea 4
Alternative Testing Methods
- Lactose tolerance test measuring serum glucose or galactose in response to an oral lactose load 3
- Genetic testing for lactase non-persistence (particularly the 13 910 C/C genotype in Caucasian populations) 3
- Assay of mucosal lactase (more invasive as it requires biopsy) 3
- Blinded oral challenge with lactose and placebo (considered the gold standard by NIH) 4
Clinical Considerations and Limitations
- False negative rates can be as high as 25% with breath hydrogen testing, often due to hydrogen non-excretion 1
- A negative breath test does not exclude the diagnosis; a trial of lactose-free diet should still be considered if symptoms are suggestive 1
- Patient self-reports of lactose intolerance correlate poorly with objective evidence and cannot be relied upon 3
- Lactase deficiency should be regarded as normal in most non-Caucasian populations after age two 3
- Secondary causes of lactose intolerance should be considered, including celiac disease, gastroenteritis, non-steroidal anti-inflammatory drug use, and small bowel disease 1
Management Following Diagnosis
- If lactose intolerance is confirmed, the primary approach should be dietary modification with temporary reduction or removal of lactose from the diet 1
- Enzyme replacement therapy is an alternative option for those who wish to continue consuming dairy products 5
- Some patients may adapt to increased lactose consumption over time, with studies showing decreased hydrogen production after sustained dairy intake 6
- Probiotics and prebiotics may help improve lactose digestion in some patients 5