Lactose Intolerance: Diagnosis and Management
Diagnostic Strategy
For patients with gastrointestinal symptoms after dairy consumption, confirm lactose intolerance objectively with a hydrogen breath test rather than relying on patient self-report, as self-reported intolerance correlates poorly with actual lactase deficiency. 1, 2
When to Test
- Only test patients consuming more than 280 ml (0.5 pint) of milk or dairy equivalent daily, as those consuming less rarely experience symptoms even if lactose malabsorptive 3, 1
- Patients below this threshold can generally tolerate moderate dairy quantities without intervention 1
Hydrogen Breath Test Protocol
- Most widely recommended diagnostic method due to being non-invasive, relatively inexpensive, and having good sensitivity and specificity 1, 4, 5
- Patient ingests 25-50g lactose dissolved in 200-500ml water after overnight fast 1
- Collect end-expiratory breath samples at 15-30 minute intervals for three hours 1
- Positive diagnosis: rise in hydrogen concentration >20 parts per million from baseline 1
Important Testing Caveats
- False negative rates can reach 25% due to hydrogen non-excretion in approximately 18% of tested subjects 1
- A negative breath test does not exclude the diagnosis; consider a trial of lactose-free diet if symptoms are suggestive 1
Alternative Diagnostic Approach
- A 2-week dietary restriction trial with symptom resolution is a simple, economical alternative when breath testing is unavailable 1, 2
Rule Out Secondary Causes First
Before accepting primary lactase deficiency, exclude reversible secondary causes: 1, 2
- Celiac disease
- Gastroenteritis
- NSAID use
- Small bowel disease
- Chemotherapy (causes reversible lactose intolerance in up to 35% of patients) 1
Management Approach
Primary Dietary Management
Implement temporary reduction or removal of lactose from the diet, avoiding fresh milk and most dairy products during symptomatic periods. 1, 2
Critical Exception: Do NOT Eliminate These Foods
- Yogurt and firm/hard cheeses are generally well-tolerated and should NOT be eliminated unnecessarily, as they contain negligible lactose 1, 2
- These products can be consumed even by lactose-intolerant individuals 1
Consider Broader FODMAP Intolerance
- At least 50% of patients with presumed lactose intolerance actually have broader intolerance to FODMAPs (fermentable oligosaccharides, disaccharides, monosaccharides, and polyols) 1, 2, 6
- If lactose restriction alone doesn't resolve symptoms after 2 weeks, implement a low FODMAP diet trial 1, 2
- This addresses the broader spectrum of fermentable carbohydrate intolerance affecting at least half of IBS patients 1
Adjunctive Therapies
- Lactase enzyme replacement can be used for occasional dairy consumption 2
- Probiotics (Lactobacillus acidophilus CL1285 + Lactobacillus casei LBC80R) for 4-12 weeks may help with symptom management 1
- Discontinue probiotics if no improvement after 12 weeks 1
Common Pitfalls to Avoid
Don't Trust Patient Self-Reports Alone
- Patient self-reports of lactose intolerance and dietary intolerance are poor predictors of objective test results or response to dietary restriction 1, 2
- Objective testing or systematic dietary elimination is essential 1
Don't Ignore IBS Overlap
- Symptoms of bloating, abdominal pain, and diarrhea are not specific to lactose intolerance and may overlap with IBS or other conditions 3, 1
- Visceral hypersensitivity can cause symptoms independent of lactose malabsorption 1
Don't Unnecessarily Restrict Medications
- Most medications contain lactose as an excipient in amounts typically <12g, which rarely cause symptoms 1, 2
- Patients with lactose malabsorption generally tolerate these amounts 2
Don't Create Overly Restrictive Diets
- Patients often adopt increasingly restricted and illogical diets when food intolerance is suspected 3
- Focus on evidence-based restrictions only: eliminate fresh milk and soft dairy, but preserve yogurt and hard cheeses 2
Special Population Considerations
Ethnic Variation in Lactase Deficiency
- Lactase deficiency prevalence: 10% in Northern Europeans, 60% in Asians, 90% in Chinese populations 3
- Lactase persistence is an autosomal dominant trait concentrated in Northern European populations 1
Infants with Acute Diarrhea
- For bottle-fed infants with acute diarrhea, use lactose-free or lactose-reduced formulas immediately upon rehydration 2
Cancer Patients on Chemotherapy
- Avoid milk and most dairy products (except yogurt and firm cheeses) to reduce symptom intensity and duration 2