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Lactose Intolerance, Molecular Detection

Testing for lactose intolerance is a molecular DNA test that detects the gene polymorphism responsible for lactose intolerance, a pathological condition that affects 30% to 60% of the Greek population. Proper diagnosis of lactose intolerance enables effective treatment of indigestion and malabsorption of lactose, effectively helping to eliminate chronic symptoms such as bloating, gas, diarrhea, and abdominal pain. A simple blood test is all that is required for molecular testing for lactose intolerance.

Lactose intolerance is one of the most common gastrointestinal disorders affecting millions of people worldwide. It is due to a deficiency of an enzyme (lactase) in the intestine, either genetically determined (primary deficiency) or resulting from small bowel diseases (secondary deficiency). Without enough amounts of lactase, the digestive system is unable to break down and absorb lactose, the basic sugar of milk and dairy products. Subsequently, the unabsorbed lactose is fermented by the bacteria in the large intestine, causing the release of gases (mainly hydrogen and methane).

Symptoms of lactose intolerance include:

  • Bloating, feeling full, or swelling of the abdomen
  • Abdominal pain and cramps
  • Diarrhea
  • Gas
  • Nausea

Due to this intestinal absorption disorder, lactose intolerance can also cause deficiency of important nutrients (vitamins and trace elements), which weaken the digestive system making it more prone to infections and inflammation.

Value of Lactose Intolerance testing

When lactose intolerance is properly diagnosed, the patient can be easily treated with appropriate dietary manipulations. However, a misdiagnosis of lactose intolerance often occurs, because symptoms often overlap with those of other pathological conditions. Studies show that up to 70% of patients with lactose intolerance do not relate their symptoms to lactose intake.

Milk and dairy products are considered an important source of nutrients for children, pregnant women, nursing mothers, and the elderly. For these people, lactose intolerance testing is very important in order to avoid the unnecessary elimination of dairy products from their diet.

Advantages of Lactose Intolerance Molecular Testing
 
  • It is a very sensitive and specific test for detecting lactose intolerance
  • It is not affected by temporary enzyme deficiency due to small bowel diseases (secondary insufficiency) therefore you will be able to know if you only need to follow a lactose-free diet temporarily, or have to follow a life-long lactose-free diet.
  • A simple blood sample is all that is required which can also be done at home (fingerprinting)
  • It does not require taking lactose solutions which can increase symptoms of intolerance to the patient
  • It does not require consecutive blood sampling, such as the lactose tolerance test
  • A 5 minutes visit to the lab is all that is required to take a blood sample, unlike, for example, hydrogen breath tests that require a 2-hour or more stay in the lab.
Who should be tested for lactose intolerance?

Lactose intolerance testing is recommended for all patients with:

  • Irritable Bowel Syndrome (IBS)
  • Inflammatory Bowel Diseases (IBD)
  • Chronic diarrhea and unexplained bloating
  • Malnutrition and chronic alcohol use
  • Radiation therapies

With the reliable diagnosis provided by molecular testing for lactose intolerance, lactose malabsorption and all its symptoms can be significantly mitigated or even completely eliminated by the use of dietary means, lifestyle changes, or even dietary supplements.

Additional information

Lactose intolerance (adult-type hypolactasia) is the inability of some individuals to digest and absorb lactose (milk sugar), resulting in various gastrointestinal symptoms when consuming milk or milk-containing products. In order for lactose to be absorbed by the intestine, it should be first broken down into glucose and galactose. The enzyme that converts lactose into glucose and galactose is called lactase and is found on the surface of cells that cover the small intestine. Lactose intolerance is due to the reduced or complete absence of lactase activity, which prevents lactose breakdown (lactase deficiency or hypolactasia).

Usually, lactose intolerance is diagnosed by swallowing pure lactose and measuring exhaled hydrogen. Unfortunately, this test lasts several hours and results in severe and annoying abdominal symptoms in patients with lactose intolerance.

The genetic cause of lactose intolerance has recently been discovered. At position -13910 before lactase gene (LCT) there is a polymorphism that determines the amount of lactase produced. By testing for the LCT genotype, genetic predisposition for lactose intolerance can be determined.

Indications for molecular screening of lactose intolerance include the presence of symptoms of lactose intolerance, such as abdominal pain, diarrhea, and flatulence (excessive gas production and bloating) after milk or dairy products' consumption.

The most effective means of treating lactose intolerance is the reduction of the amount of lactose in the diet. Fortunately, most people who have lactose intolerance can tolerate small or even moderate amounts of lactose. It is often enough just to remove the most important milk-containing products to sufficiently alleviate the symptoms of intolerance. However, for people who are intolerant even to small amounts of lactose, dietary restrictions become more severe and any milk-containing product should be avoided.

Additional information
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