Lactose Intolerance

Lactose intolerance is the inability to digest lactose, a sugar found in dairy products, due to a deficiency of the enzyme lactase. This condition affects approximately 65% of the global population with varying prevalence among different ethnic groups.

Signs and Symptoms

The primary symptoms of lactose intolerance include abdominal pain, bloating, diarrhoea, flatulence, and nausea, typically occurring 30 to 120 minutes after consuming lactose-containing foods. The severity of symptoms depends on the amount of lactose ingested and individual tolerance levels. Unlike milk allergy, lactose intolerance does not cause immune reactions such as itching, hives, or anaphylaxis.

Causes

Lactose intolerance results from a deficiency of lactase, an enzyme produced in the small intestine that breaks down lactose into glucose and galactose for absorption. This deficiency can be genetic or acquired. There are four types of lactose intolerance:

1. Primary Lactose Intolerance: Common and genetically determined, it occurs as lactase production decreases after childhood.
2. Secondary Lactose Intolerance: Caused by injury to the small intestine due to infections, celiac disease, Crohn's disease, or other conditions.
3. Developmental Lactose Intolerance: Occurs in premature infants but usually improves over time.
4. Congenital Lactose Intolerance: A rare genetic disorder present from birth, characterised by a complete lack of lactase.

Diagnosis

Diagnosis of lactose intolerance involves several steps to confirm the condition:

• Hydrogen Breath Test: Measures hydrogen levels in breath after ingesting lactose. High levels indicate lactose intolerance.
• Lactose Tolerance Test: Monitors blood glucose levels after lactose ingestion. A flat glucose rise suggests lactose malabsorption.
• Stool Acidity Test: Used for infants, it tests stool acidity after lactose ingestion. Acidic stools indicate intolerance.
• Intestinal Biopsy: Confirms lactase deficiency through tissue samples.
• Genetic Testing: Identifies specific mutations associated with primary lactose intolerance.

Management

Management primarily involves dietary adjustments and supplements:

• Dietary Avoidance: Limiting lactose intake to avoid symptoms. Individuals vary in their tolerance levels, and many can consume small amounts of lactose without significant issues.
• Lactase Supplements: Over-the-counter lactase enzyme supplements can help digest lactose when consuming dairy products.
• Lactose-Free Products: Use of lactose-free milk and dairy products as substitutes.
• Calcium Intake: Ensuring adequate calcium intake through non-dairy sources or supplements to maintain bone health.

Epidemiology

Lactose intolerance varies significantly across populations:

• High Prevalence: East Asian, West African, Jewish, and Arab descent populations, with up to 90-100% affected.
• Low Prevalence: Northern European populations, with about 5% affected due to historical dairy farming and genetic adaptations.

Historical Context

Lactase persistence, the ability to digest lactose into adulthood, evolved in populations with a history of dairy farming, such as in Europe, Scandinavia, and parts of Africa. This genetic adaptation occurred independently in various regions due to the benefits of digesting milk from domesticated animals. The understanding of lactose intolerance has evolved, recognising it as common globally rather than an anomaly limited to certain populations.

Other Animals

Most mammals, including humans, typically lose the ability to produce lactase after weaning. This natural decline in lactase production is also observed in other mammals, driven by genetic and epigenetic factors such as DNA methylation.

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Self-assessment MCQs (single best answer)

What enzyme is deficient in individuals with lactose intolerance?

Which symptom is NOT typically associated with lactose intolerance?

Which type of lactose intolerance is present from birth and results from a complete lack of lactase?

Which diagnostic test measures hydrogen levels in the breath after lactose ingestion?

Which population has the highest prevalence of lactose intolerance?

What is the primary management strategy for lactose intolerance?

What is the main difference between lactose intolerance and a milk allergy?

Which of the following is NOT a common method for diagnosing lactose intolerance?

What historical development contributed to lactase persistence in certain populations?

Why is it important for individuals with lactose intolerance to ensure adequate calcium intake?