Reinvestigation of lactose intolerant children: lack of correlation between continuing lactose intolerance and small intestinal morphology, disaccharidase activity, and lactose tolerance tests.

Thirty children on a lactose-free diet aged from 2-38 months who had previously been diagnosed as having secondary lactose intolerance were reinvestigated on 32 occasions by an oral lactose tolerance test, small intestinal biopsy, and measurement of disaccharidase activity in order to detect the presence of continuing lactose intolerance before reintroduction of milk. No correlation was found between continuing lactose intolerance, as diagnosed by the development of watery stools containing excess reducing substances after an oral load of lactose, and maximum blood glucose rise during a lactose tolerance test, lactase levels, and small intestinal morphology.     

Rifaximin in patients with lactose intolerance

BACKGROUND: Abdominal symptoms linked to lactose malabsorption may be caused by metabolic activity of colonic bacteria. Rifaximin, a non-absorbable rifampycin derivative, is active against colonic bacteria, it may be useful in the treatment of lactose intolerance. AIM: The aim of this study has been to evaluate short-term rifaximin therapy in patients with lactose intolerance. METHODS: Thirty-two patients with lactose intolerance diagnosed using the hydrogen lactose breath test were studied. Fourteen patients received rifaximin 800 mg/day for 10 days, 13 patients followed a diet without milk for 40 days and 5 patients received a placebo for 10 days. Total breath H(2) excretion expressed as area under the curve, and the symptom score were evaluated in all patients at the start, and subsequently after 10 and 40 days. RESULTS: In the 14 patients who received rifaximin for 10 days, area under the curve at day 10 and day 40 was statistically significantly lower than the one computed at basal (P<0.01). Diet reduced area under the curve progressively reaching statistical significance at day 40, while the placebo did not change area under the curve throughout the study. The total symptom score significantly improved after rifaximin and diet. CONCLUSION: In patients with lactose intolerance, a 10-day therapy with rifaximin as well as 40-day diet without lactose reduces the area under the curve and the symptom score.     

Changes in plasma free fatty acid concentration following oral lactose tolerance tests as a test for lactose absorption in infants and children

Changes in blood glucose and plasma free fatty acid (FFA) following oral lactose tolerance tests (LTT) were measured in three groups of children. In three out of seventeen infants with secondary lactose intolerance, only a small increase (less than 25 mg/100 ml) in glucose was found, but a normal decline (more than 50% of fasting value) in FFA concentration occurred. Resumption of milk feeding proved that they were not intolerant to lactose. Six infants (37%) without lactose intolerance who were on a normal lactose-containing diet showed only small increases in glucose; five of them showed a normal decline in plasma FFA. Nine out of thirteen children with no symptoms following oral LTT failed to show an increase in blood glucose, while in only one there was a decline of less than 50% in FFA concentration. Our results suggest that measurement of plasma FFA following oral LTT may be a more reliable test for cleavage and absorption of lactose than LTT alone, but for the final evaluation of this test a study of larger groups is obviously needed.     

Incidence and clinical significance of lactose malabsorption in ulcerative colitis and Crohn's disease

The incidence of lactose malabsorption was investigated in 85 patients with ulcerative colitis and 71 patients with Crohn's disease by means of lactose tolerance tests and disaccharidase determinations in small intestinal mucosa. Eight patients with ulcerative colitis (9%) and four with Crohn's disease (6%) had lactose malabsorption. A control group displayed a similar incidence. It is concluded that lactose malabsorption is not particularly common in ulcerative colitis and Crohn's disease. If it is present, its aetiology seems to be unrelated to the intestinal disease.Transitional lactose malabsorption was detected in two cases during a relapse of ulcerative colitis.Institution of a lactose-free (or lactose-poor) diet was an important supporting measure in seven patients who were unaware of their milk intolerance, in particular in two with ileostomy. Therefore, it is recommended that a lactose tolerance test should always be performed in patients with ulcerative colitis or Crohn's disease.Twenty-one patients with ulcerative colitis and nine with Crohn's disease, none of whom had lactose malabsorption, were placed on milk-free diets. A beneficial effect was noticed in five of the patients with ulcerative colitis, and in three of those with Crohn's disease. The mechanism is unknown.Evidence is presented that milk allergy is not responsible for the beneficial effect of a lactosefree diet in patients with associated lactose malabsorption.     

Prevalence of lactose malabsorption among patients with functional bowel disorders

To investigate the prevalence of lactose malabsorption among patients with functional gastrointestinal disturbances we prospectively evaluated all patients referred to a gastrointestinal outpatient clinic over a period of 18 months. All patients had a breath hydrogen test following oral lactose in addition to the standard diagnostic procedures. In 37 of the total of 64 patients no organic cause of the gastrointestinal complaints was found. In 9 of these 37 patients (24%) the breath hydrogen test indicated lactose malabsorption. Three to 6 month later most of the patients with lactose malabsorption showed a significant reduction of gastrointestinal complaints after they had maintained a lactose-poor diet. In comparison, patients with functional disturbances but without lactose malabsorption reported nor or only minor improvement of symptoms; most of these patients had consulted another physician since the last visit in the clinic.     

Hydrogen breath test for the diagnosis of lactose intolerance, is the routine sugar load the best one？

AIM： To evaluate the prevalence of lactose intolerance （LI） following a load of 12.5 g in patients diagnosed as high-grade malabsorbers using the hydrogen breath test （HBT）-25. METHODS： Ninety patients showing high-grade malabsorption at HBT-25 were submitted to a second HBT with a lactose load of 12.5 g. Peak hydrogen production, area under the curve of hydrogen excretion and occurrence of symptoms were recorded. RESULTS： Only 16 patients （17.77%） with positive HBT-25 proved positive at HBT-12.5. Hydrogen production was lower as compared to HBT-25 （peak value 21.55 parts per million （ppm） ± 29.54 SD vs 99.43 ppm ± 40.01 SD; P 〈 0.001）. Symptoms were present in only 13 patients. The absence of symptoms during the high-dose test has a high negative predictive value （0.84） for a negative low-dose test. The presence of symptoms during the first test was not useful for predicting a positive low-dose test （positive predictive value 0.06-0.31）. CONCLUSION： Most patients with a positive HBT-25 normally absorb a lower dose of lactose and a strict lactose restriction on the basis of a ＂standard＂ HBT is, in most instances, unnecessary. Thus, the 25 g lactose tolerance test should probably be substituted by the 12.5 g test in the diagnosis of LI, and in providing dietary guidelines to patients with suspected lactose malabsorption/intolerance.     

Lactose intolerance: lactose tolerance test versus genotyping

OBJECTIVE: Adult lactose intolerance, which affects the majority of the population in the world, has been associated with a single nucleotide polymorphism, C-13910T, located upstream of the lactase gene. MATERIAL AND METHODS: Adult patients undergoing lactose tolerance tests with lactose challenge and plasma glucose measurements were included in the study comprising 44 Swedes and 7 non-Swedish individuals. A real-time PCR method was established for the genotyping. RESULTS: Out of 51 patients 48 had concordant results on genotyping and lactose tolerance tests, e.g. -13910T/T and -13910C/T genotypes had high glucose elevations. All patients with the heterozygous genotype, -13910C/T, had high glucose elevations, and no gene-dose relationship was observed when comparing maximal glucose increases for cases with -13910C/T and -13910T/T genotypes. CONCLUSIONS: Genotyping could replace lactose challenge as a first-stage screening test in adults of European descent, but should be used together with tolerance tests in children and patients where secondary lactose intolerance is suspected.     

Is lactose intolerance implicated in the development of post-infectious irritable bowel syndrome or functional diarrhoea in previously asymptomatic people?

OBJECTIVE: The relationship between lactose intolerance and post-infectious irritable bowel syndrome (IBS) in adults is uncertain. Bowel symptoms may persist after bacterial gastroenteritis and as post-infectious IBS. Acquired lactose intolerance may follow viral enteric infections in children. We compared the frequency of lactose intolerance after bacterial gastroenteritis in adults with and without symptoms of IBS or functional diarrhoea at 3-6-months' follow-up. DESIGN: A prospective cohort study was conducted. METHODS: All subjects with bacterial gastroenteritis confirmed by stool culture from the microbiology laboratory and without prior IBS or functional diarrhoea were eligible to participate. IBS and functional diarrhoea were diagnosed via self-completed Rome II modular questionnaires. Lactose intolerance was determined from a rise in breath hydrogen and plasma glucose and symptoms. RESULTS: One hundred and twenty-eight subjects with bacterial gastroenteritis were followed prospectively, from which a smaller cohort of 42 subjects took part in this study. The cohort was comprised of 24/25 subjects who developed post-infectious IBS (n = 16) or functional diarrhoea (n = 8) (9 male, 15 female) and 18 random controls (8 male, 10 female) chosen from the group without IBS or functional diarrhoea. The mean age of the subjects was 44.4 years (range 25-76 years). In the group with functional diarrhoea or IBS, four subjects had failure of the plasma glucose to rise but none had abnormal glucose hydrogen breath tests. In the control subjects, one had a positive combined test and six had failure of plasma glucose to rise alone. No subject developed symptoms during the test. CONCLUSIONS: Bacterial gastroenteritis did not cause persistent lactose intolerance in our study population. Lactose intolerance does not appear to be implicated in the aetiology of post-infectious bowel symptoms, including IBS. Advice to avoid dairy products in patients presenting with post-infectious IBS on the basis that they may have lactose intolerance appears unnecessary in patients from northern England.     

Incidence and clinical significance of lactose malabsorption in adult coeliac disease

Fifty-one adult patients with coeliac disease, verified by a proximal small-intestinal biopsy, were investigated. Before treatment with a gluten-free and low-lactose diet 52% showed a slight rise in blood glucose during the lactose tolerance test. Seventy-nine per cent of these patients had watery stools, and 88% had three or more bowel movements a day--statistically significantly different from the coeliac patients with a normal lactose tolerance test. After treatment 12% had a flat lactose tolerance curve. Half of them (6%) had specific lactase deficiency. This is approximately the incidence of lactose malabsorption in the general Danish population. The small-intestinal disaccharidases and alkaline phosphatase levels were severely depressed before treatment. After treatment the activities increased, but not to normal. We conclude that lactose malabsorption is a clinically important condition in many patients with untreated coeliac disease, giving rise to more frequent and more watery stools. In well-treated coeliac disease lactose malabsorption is not commoner than in the general population. The lactose activity in a proximal intestinal biopsy specimen was found to be an unreliable indicator of lactose malabsorption in coeliac disease.     

Breath testing to evaluate lactose intolerance in irritable bowel syndrome correlates with lactulose testing and may not reflect true lactose malabsorption

OBJECTIVES: An increased prevalence of lactose intolerance is seen in irritable bowel syndrome (IBS). Recently, we demonstrated a high prevalence of abnormal lactulose breath test results in IBS suggesting bacterial overgrowth. Because symptoms of lactose intolerance result from bacterial fermentation, the purpose of this study was to determine whether an abnormal lactose breath test is reflective of malabsorption or early presentation to bacteria. METHODS: Subjects with diarrhea-predominant IBS were enrolled. On day 1, subjects underwent a lactulose breath test after an overnight fast. Within 1 wk, subjects returned after fasting for a lactose breath test with simultaneous blood glucose measurements every 15 min to complete a lactose tolerance test (LTT). Symptoms were evaluated 3 h after lactose administration. RESULTS: Twenty subjects completed the study. One subject inadvertently received dextrose through the intravenous and was excluded. Of the remaining 19 subjects, three (16%) had an abnormal LTT suggesting malabsorption. In all, 10 subjects (53%) had an abnormal lactose breath test, 14 (74%) had an abnormal lactulose breath test, and 11 (58%) had symptoms after lactose administration. The agreement with symptoms was moderate (kappa = 0.47) and fair (kappa = 0.24) when compared to the lactose breath test and LTT, respectively. There was a fair correlation between lactose breath test and LTT (kappa = 0.29). However, lactose breath test hydrogen levels >166 ppm were universally predictive of abnormal LTT. Finally, a significant correlation was seen between the hydrogen production on lactose and lactulose breath test (r = 0.56, p = 0.01). CONCLUSIONS: Lactose breath testing in IBS subjects does not seem to reflect malabsorption; it may be an indicator of abnormal lactulose breath test, suggesting bacterial overgrowth.     

Deficient lactose digestion and intolerance in a group of patients with chronic nonspecific ulcerative colitis: a controlled, double-blind, cross-over clinical trial

Introduction: Despite the fact that the frequency of hypolactasia and lactose intolerance is similar in both chronic idiopathic ulcerative colitis patients and the general population, the elimination of dairy products from the patient's diet is a habitual recommendation. Hypolactasia is common in Mexico, but its relation to chronic idiopathic ulcerative colitis has not been established. Aims: To evaluate lactose digestion and lactose intolerance in persons with chronic idiopathic ulcerative colitis. Material and methods: Thirty-nine patients with confirmed chronic idiopathic ulcerative colitis diagnosis were included in the study (mean: 31 years, range: 15 to 38). Twenty-two patients presented with rectosigmoid involvement and the remaining patients with pancolitis. No patient showed inflammatory activity according to the Truelove-Witts criteria and all consumed dairy products before diagnosis. A prospective, controlled, double-blind, cross-over study was designed. Patients randomly received 12.5 g of lactose or maltose in 250 cc water- each test 72 hours apart - and ydrogen was measured in exhaled air before disaccharide ingestion and then every 30 minutes for 3 hours. Digestion was considered deficient when there was an increase in hydrogen of at least 20 ppm. Symptom intensities were evaluated by Visual Analog Scales before, during, and after the hydrogen test. Differences between the groups were contrasted with the Mann-Whitney U and the Wilcoxon tests. Results: Eighteen patients (46%) presented with deficient lactose digestion. No significant differences were found in the symptoms, extension, or progression of chronic idiopathic ulcerative colitis between patients that could digest and those that could not digest lactose. No patient had symptom exacerbation with the disaccharides used. Conclusions: Lactose digestion deficiency frequency is similar in subjects with chronic idiopathic ulcerative colitis and in healthy individuals in Mexico. We do not know whether higher doses could have some effect, but symptoms in patients with inactive chronic idiopathic ulcerative colitis were not modified using 12.5 g of lactose/day.     

The effect of a lactose-restricted diet in patients with a positive lactose tolerance test, earlier diagnosed as irritable bowel syndrome: a 5-year follow-up study

DESIGN AND METHODS: Prospectively, the effect of a lactose-restricted diet was evaluated among irritable bowel syndrome patients with lactose malabsorption. Lactose malabsorption was defined by a positive hydrogen breath test and a positive blood-glucose test. An analysis of symptoms was completed before, during, 6 weeks after and 5 years after starting the diet. In addition, the number of visits made by the patients to the outpatient clinic was scored during 6 years. RESULTS: In 17 out of 70 irritable bowel syndrome patients (24.3%), lactose malabsorption was detected. There was no difference in the symptom score between patients with a positive lactose tolerance test and patients with a negative lactose tolerance test. After 6 weeks of the lactose-restricted diet, symptoms were markedly improved in lactose malabsorption-positive patients (P < 0.001). After 5 years, one patient was lost for follow-up, and 14 out of the remaining 16 lactose malabsorption patients (87.5%) still had no complaints during the lactose-restricted diet. Two patients chose not to follow the diet continuously and accepted the discomfort caused by lactose intake. Only two out of 16 patients (12.5%) no longer experienced any benefit from lactose restriction. In the 5 years before their diagnosis of lactose malabsorption, these 16 patients visited the outpatient clinic a total of 192 times (mean 2.4 visits per year per person; range 1-7 visits). In the 5 years after diagnosis, they visited the outpatient clinic a total of 45 times (mean 0.6 visits per year per person; range 0-6 visits; P < 0.0001). CONCLUSIONS: In a large majority of irritable bowel syndrome patients with lactose malabsorption, which was previously clinically unrecognized, a lactose-restricted diet improved symptoms markedly both in the short term and the long term. Furthermore, visits by all patients to the outpatient clinic were reduced by 75%. We conclude that diet therapy is extremely cost- and time-saving. Therefore, it is strongly recommended that lactose malabsorption, which is easily treatable, is excluded before diagnosing irritable bowel syndrome.     

Lactase deficiency and lactose intolerance-related symptoms in adult healthy subjects from western France]

The prevalence of lactase deficiency (LD) and lactose intolerance is not well known in France. Using breath hydrogen and methane analysis after 50 g oral lactose load, we investigated the prevalences of LD, lactose intolerance, and methane producer status in 102 healthy adults born in western France, and we examined the relationships between these parameters and the daily milk consumption. In 10 subjects with LD and lactose intolerance, we studied the reproducibility of the lactose hydrogen breath test results for the diagnosis of LD and lactose intolerance and estimated the quantity of lactose malabsorbed in comparison with the lactulose hydrogen breath test. The prevalence of LD was 23.4 percent and symptoms of lactose intolerance were observed in 50 percent of the 24 subjects with LD. The daily milk consumption was not significantly different in the 24 subjects with LD and in the 78 subjects without LD (281 +/- 197 vs 303 +/- 217 ml/24 h). The prevalence of methane producer status was 42.1 percent. The symptomatic group of lactose malabsorbers (n = 12) was characterized by a shorter lactose mouth to caecum transit time (39 +/- 20 vs 88 +/- 48 min; P less than 0.05), and more marked hydrogen production (6.1 +/- 2.3 vs 3.4 +/- 2.4 10(3) ppm.min; P less than 0.04). In the 10 subjects with LD and lactose intolerance, the hydrogen breath test was reproducible for diagnosis of LD and lactose intolerance, and for hydrogen production. The quantity of lactose malabsorbed was 60 percent. In France, symptoms of lactose intolerance are not severe and do not affect the daily consumption of milk and dairy products.     

Diagnosis of lactose intolerance and the “nocebo” effect: The role of negative expectations

BackgroundDiagnosis of lactose intolerance is based on a “positive” H₂ breath test associated with abdominal symptoms. The present study established to what extent the occurrence of symptoms during a “negative” H₂ breath test may result from a “nocebo effect” instead of lack of sensitivity of the procedure.MethodsBetween 2005 and 2007, 636 outpatients performed a standard 4-h 25 g lactose tolerance test. The test was positive in 254, negative in 325, and 57 patients were H₂ “non-producers”. Twenty-seven patients reporting symptoms despite a negative H₂ breath test underwent a “sham” breath test following ingestion of 1 g of glucose. Fifty-four patients presenting with documented lactose intolerance were used as controls.ResultsTwelve out of 27 patients (44.4%), and unexpectedly also 14 (25.9%) controls presented abdominal symptoms during the sham test. The difference between the two groups was not significant (P < 0.15) OR 2.28; C.I. 0.77–6.78.ConclusionIn most instances, symptoms reported by patients during a negative lactose H₂BT cannot be attributed to a false-negative test. Instead, a non-organic component, resulting from negative expectations (“nocebo effect”) is likely implicated. Moreover, also in patients diagnosed as lactose intolerant, the need for restricting the primary source of dietary calcium should be critically reconsidered.     

HRQoL questionnaire evaluation in lactose intolerant patients with adverse reactions to foods

The occurrence of patients with gastrointestinal symptoms attributed either to food allergy or intolerance has significantly increased. Nevertheless, an accurate and detailed case history, a systematic evaluation and the outcomes of specific allergy tests to identify the offending foods, including “in vivo” and “in vitro” allergy tests, are often negative for food allergy and may indicate a lactose intolerance, which is a recurrent condition affecting about 50% of adults. The aims of our study were the following: (1) What is the real incidence of the food hypersensitivity and the primary lactose intolerance in patients with gastrointestinal symptoms, initially referred to allergy or food intolerance? (2) Does lactose intolerance affect the quality of life and compliance to the therapy program? We investigated 262 consecutive patients, 72 men and 190 women. An accurate and detailed history and clinical examination were completed to investigate the offending foods. The evaluation in each patient included: allergy tests, lactose H₂ breath test (LHBT) and the HRQoL questionnaire. Five years after the diagnosis of lactose intolerance, a questionnaire on the persistence of gastrointestinal symptoms after lactose ingestion and the diet compliance was distributed. Our results demonstrate an high prevalence of lactose intolerance, more frequent in women; in these patients, bloating and diarrhea are the most reported symptoms. We observe only a significant positive correlation between adverse drug reaction (ADR) and LHBT+ patients, but not an augmented prevalence of food allergy and a negative impact on the HRQoL questionnaire of lactose intolerance.     

Concordance of indirect methods for the detection of lactose malabsorption in diabetic and nondiabetic subjects

In order to collect data on (1) the prevalence of lactose malabsorption and (2) the value of indirect diagnostic methods for hypolactasia in diabetics, we compared lactose tolerance tests using serum glucose, serum galactose (after oral ethanol intake) and breath hydrogen excretion as diagnostic cutoff in 144 nondiabetic and 46 diabetic subjects. A good rate of concordance was found for the hydrogen breath test and galactose-dependent lactose tolerance test. The glucose-dependent lactose tolerance test was found to be of satisfactory diagnostic value in nondiabetic subjects and was useless for diagnostic purposes in diabetics. Lactose malabsorption was no more frequent in diabetics than in controls and lactose intolerance was found to be less frequent in the diabetic group. A distinction between hypolactasia and other gastrointestinal disorders in diabetics is possible by ambulatory indirect tests.     

Lactose malabsorption, irritable bowel syndrome and self-reported milk intolerance

BACKGROUND: The relationship between lactose malabsorption, irritable bowel syndrome and development of intestinal symptoms is unclear, especially when the ingested dose of milk is small. Thus, the role of hydrogen breath testing in the diagnostic work-up of patients with nonspecific intestinal symptoms is still debated. AIMS: To establish the relationship between lactose malabsorption, severe self-reported milk intolerance, irritable bowel syndrome and related symptoms. METHODS: The prevalence of lactose malabsorption was prospectively assessed by means of a hydrogen breath test in 839 patients (503 with irritable bowel syndrome, based on the Rome criteria, regularly consuming milk, and 336 subjects who identified themself as milk intolerant, after an oral load of 25 g lactose). The test was considered "positive" when a hydrogen peak exceeding 20 ppm over baseline values was observed in two or more samples. Attempts were also made to establish whether the predominant presenting symptom (diarrhoea, constipation, alternating diarrhoea and constipation, pain and gaseousness) might be helpful in predicting the outcome of the breath test. RESULTS: The prevalence of a positive breath test was comparable in the two groups (337 patients with irritable bowel syndrome (66.9%) vs 240 patients with milk intolerance (71.4%)). The same holds true for the first peak of hydrogen excretion, total hydrogen output and prevalence of symptoms during, and in the four hours after, the test. The predominant presenting symptom was not useful for predicting outcome of the test either in regular milk users or in milk intolerant subjects. CONCLUSIONS: The almost identical results of the lactose breath test of patients with irritable bowel syndrome and subjects with self-reported milk intolerance suggests that the two conditions overlap to such an extent that the clinical approach should be the same. A lactose breath test should always be included in the diagnostic work-up for irritable bowel syndrome, as fermentation of malabsorbed lactose is likely responsible for triggering symptoms. Conversely, lactase deficiency is probably irrelevant in most subjects not affected by irritable bowel syndrome, within a moderate milk consumption.     

57-year-old female patient in early retirement with underweight and chronic-relapsing diarrhoea

Underweight as a consequence of chronic diarrhoea may lead to fatigue, tiredness and impaired physical performance, especially when the underlying cause has not been evaluated. In spite of algorithms as a help in the differential diagnosis, an individual approach with critical consideration of diet history, laboratory data and imaging procedures is necessary. Additional difficulties may arise when the history of food intolerance is inconsistent and technical findings including endoscopy are inconclusive. We report on a 57-year-old female patient with underweight, chronic intermittent diarrhoea and cramp-like abdominal pain for more than 10 years following pelvic irradiation due to Hodgkin's disease of the ovary. A systematic diagnostic approach was not undertaken until very recently due to the deterioration of her clinical conditions pointing to jejunal malabsorption. In spite of the absence of a specific history of milk/milk product intolerance a lactose H (2)-breath test was performed showing lactase deficiency with lactose intolerance. The rapid improvement of all her symptoms after a lactose-poor diet had been started supported this diagnosis. Possible reasons for the long time period which had elapsed until the diagnosis was established and the discrepancy of the H (2)-breath test results with the absence of a clear-cut history for milk/milk product intolerance are discussed in terms of the importance of a structured history-taking with regard to nutrition and diet habits. In addition, potential explanations for radiation-induced functional damage in the absence of morphological abnormalities are provided. Based on the experience of this case and considerations regarding the consequences of radiation-induced jejunal damage, we recommend that a lactose-H (2) breath test be routinely included in the diagnostic work-up of patients with unclear chronic diarrhoea even if there is no defined history of milk/milk product intolerance.     

Genetic test for lactase non-persistence and hydrogen breath test: Is genotype better than phenotype to diagnose lactose malabsorption?

BackgroundAdult-type hypolactasia is a widespread condition throughout the world, causing lactose malabsorption. The lactose breath test is a simple tool for diagnosis but the need for prolonged monitoring of hydrogen excretion has led to a genetic test proposal. The aim of this study was to compare the genetic test with the lactose breath test in order to give some insights into the clinical value of genetic testing.MethodsThirty-two consecutive functional patients underwent lactose breath test and lactase genetic polymorphism analysis (C/T 13910 and G/A 22018). Intolerance symptoms after lactose load were also monitored.ResultsAll patients with positive lactose breath test showed homozygosis for both polymorphisms. Among the nine patients with a negative breath test result, six showed heterozygosis while three showed homozygosis. Intolerance symptoms were present in 16 homozygotic patients but also in one heterozygotic patient. The k value for the agreement between the genetic test and the lactose breath test was 0.74.ConclusionA positive genetic test for lactase non-persistence indicates whether lactase activity decline may represent a clinical problem for the patient, but does not give information on actual patient symptoms. On the contrary, this information is already available by combining the lactose breath test with intolerance symptom evaluation. Lactose absorption phenotype may be not yet evident until young adult age.     

Manifestation and occurrence of selective adult-type lactose malabsorption in Finnish teenagers

In 1969–1970, a simple random sample of 129 Finnish school-aged children was examined to study selective adult-type lactose malabsorption (SLM) in this age category. SLM was found in 8 children. All subjects were reexamined 5 years later. SLM was reconfirmed in these 8 persons and found in 3 additional subjects who had normal lactose absorption in the first examination. The prevalence of SLM was 9.3%, being 8.5% in the age category 12–15 years and 9.9% in that 16–20 years. Low rise of blood glucose in the lactose tolerance test of the first examination, very low milk consumption, milk intolerance, and history of gastrointestinal symptoms were found to be of low predictive value as indicators of SLM. It was also concluded that information about dietetic sources of lactose is important to persons with SLM, but categorical exclusion of lactose from the diet is not necessary, at least in the Finnish population.The study was supported by the Finnish Cultural Foundation and the Foundation for Pediatric Research in Finland.