Lactose Intolerance is a condition that results from inadequate digestion and absorption of foods containing lactose. In order to be absorbed, lactose is broken down to D-glucose and D- galactose, which is facilitated by the enzyme lactase. Approximately 70% of the world’s population has lactose intolerance due to a genetically programmed reduction in lactase expression after weaning in infancy. Due to the clinical expression of lactose intolerance which includes common gastroenterological symptoms of flatulence, diarrhea and abdominal pain or cramps in the pediatric population, it is often confused with other entities, mainly cow-milk protein allergy. This may lead to excessive amount of testing and very restrictive diets. It is therefore important to revisit our current knowledge of the clinical syndromes associated with lactose intolerance, the diagnostic work-up and the therapeutic approach to each type.
Including the growing premature neonatal population, lactose intolerance can be divided in 4 clinical types:
1. Developmental lactase deficiency, a temporary condition that affects premature babies.
2. Congenital lactate deficiency (alactasia), a disorder caused by a rare autosomal, recessive mutation on chromosome 2q21.3.
3. Primary adult lactase deficiency (hypolactasia), the most common form of lactose intolerance which has a varied racial and ethnic distribution and is characterized by a natural decline in the production of lactase, usually evident after 5 years of age.
4. Secondary lactose Intolerance, which in children is usually associated with infectious gastroenteritis, CMP allergy, celiac and Crohn’s disease.
By the end of this presentation the audience will be able to
- Distinguish the 4 different clinical syndromes that cause lactose intolerance and the etiology behind the clinical expression
- Determine the most appropriate type of available testing for each clinical syndrome, ie genetic testing, hydrogen breath test.
- Determine when to escalate testing or refer to pediatric gastroenterologist in cases of secondary lactose intolerance
- Decide on the most appropriate therapy depending on the age of the infant/child and the type of lactose intolerance suspected (extended hydrolysed formulas, lactose- free formulas, lactase supplements and dietary restrictions).
- Be able to provide guidance and comfort to the child and caregivers regarding this condition