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2.
Nutrients ; 16(16)2024 Aug 16.
Artículo en Inglés | MEDLINE | ID: mdl-39203877

RESUMEN

The rise in food intolerances and celiac disease, along with advanced diagnostic techniques, has prompted health professionals to seek effective and economical testing methods. This study evaluates combining genetic tests with routine carbohydrate-absorption breath tests to classify patients with chronic gastrointestinal disorders into therapeutic groups, enhancing dietary management and improving gut health and quality of life. Forty-nine patients with suspected carbohydrate intolerance underwent genetic testing for lactase non-persistence, hereditary fructose intolerance, and celiac disease risk. Simultaneously, breath tests assessed lactose and fructose absorption. The lactase non-persistence genotype appeared in 36.7% of cases, with one hereditary fructose-intolerance case in a heterozygous condition. Celiac disease risk markers (HLA-DQ2/8 haplotypes) were found in 49.0% of the population. Secondary lactose and/or fructose malabsorption was present in 67.3% of patients, with 66.1% of lactase non-persistence individuals showing secondary lactose malabsorption. Fructose malabsorption was prevalent in 45.8% of patients at risk for celiac disease. Two main treatment groups were defined based on genetic results, indicating primary and irreversible gastrointestinal disorder causes, followed by a sub-classification using breath test results. Genetic testing is a valuable tool for designing dietary management plans, avoiding unnecessary diet restrictions, and reducing recovery times.


Asunto(s)
Pruebas Respiratorias , Enfermedad Celíaca , Intolerancia a la Fructosa , Enfermedades Gastrointestinales , Pruebas Genéticas , Lactasa , Intolerancia a la Lactosa , Humanos , Femenino , Masculino , Adulto , Enfermedad Celíaca/dietoterapia , Enfermedad Celíaca/genética , Persona de Mediana Edad , Pruebas Respiratorias/métodos , Pruebas Genéticas/métodos , Intolerancia a la Fructosa/genética , Intolerancia a la Fructosa/dietoterapia , Intolerancia a la Fructosa/diagnóstico , Enfermedades Gastrointestinales/dietoterapia , Enfermedades Gastrointestinales/genética , Enfermedades Gastrointestinales/diagnóstico , Intolerancia a la Lactosa/genética , Intolerancia a la Lactosa/dietoterapia , Intolerancia a la Lactosa/diagnóstico , Enfermedad Crónica , Lactasa/genética , Lactasa/deficiencia , Lactasa/metabolismo , Anciano , Intolerancia Alimentaria/genética , Adulto Joven , Adolescente , Fructosa
3.
Curr Opin Clin Nutr Metab Care ; 27(4): 333-337, 2024 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-38836813

RESUMEN

PURPOSE OF REVIEW: Lactose malabsorption and intolerance are very common conditions. However, their optimal approach, including the diagnostic assessment, remains a matter of debate, especially in advanced age. In this brief review, we focused on current knowledge, concerns, and impact in clinical practice of lactose malabsorption and intolerance in elderly. RECENT FINDINGS: Older adults are at high risk of malnutrition, owing to frequent occurrence of cognitive impairment, loss of appetite, dysphagia, and poor oral health. A significant decrease in the consumption of dairy products may lead to inadequate intake of high-quality protein and minerals, with a consequent impact on muscle and bone health. Testing for lactose malabsorption may be challenging in older adults, if not useless. Instead, a detailed clinical evaluation should always be pursued to identify both lactose intolerance and all confounding factors mimicking the same clinical picture. SUMMARY: The management of lactose malabsorption and intolerance in older adults deserves a personalized approach. Because of the importance of maintaining an adequate nutritional status in this age group, efforts should be put forth to avoid excessively restrictive diets.


Asunto(s)
Intolerancia a la Lactosa , Desnutrición , Humanos , Intolerancia a la Lactosa/diagnóstico , Anciano , Desnutrición/diagnóstico , Estado Nutricional
4.
Dig Dis Sci ; 69(6): 2147-2153, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38499733

RESUMEN

INTRODUCTION: Diagnosing lactose malabsorption is usually based on hydrogen excretion in breath after a lactose challenge. However, a proportion of subjects with lactose malabsorption will not present a rise in hydrogen. Measuring excretion of methane or stable isotope labeled 13CO2 after ingestion of 13C-lactose has been proposed to mitigate this problem. OBJECTIVE: The aim of the study was to assess the performance of measuring methane and 13CO2 in individuals with normal hydrogen excretion compared to a genetic lactase non-persistence test. METHODS: Individuals referred for lactose breath testing and healthy controls were included. Participants received 13C-enriched lactose, performed breath testing, and underwent genotyping for a marker of lactase non-persistence (13910C*T). Using genotype as gold standard, the performance of measuring methane and 13CO2 excretion was assessed. RESULTS: 151 subjects participated in the study, 50 of which presented a lactase non-persistent genotype. Of these, 72% were correctly diagnosed through hydrogen excretion of ≥ 20 ppm above baseline. In subjects with normal hydrogen excretion, cumulative 13C excretion had an area under the curve (AUC) of the receiver operating characteristics (ROC) curve of 0.852. Sensitivity was 93% and specificity was 51% for the current cutoff of 14.5%. The optimal cutoff was 12.65% (sensitivity 93%, specificity 70%). The ROC curve of peak methane had an AUC of 0.542 (sensitivity of 14%, specificity of 91% for cutoff ≥ 10 ppm). CONCLUSIONS: In individuals with genetically demonstrated lactase non-persistence and negative hydrogen breath test, the use of 13C-lactose with measurement of 13CO2 excretion and hydrogen is a well-performing test to detect the lactose malabsorption and performs better than methane in our cohort.


Asunto(s)
Pruebas Respiratorias , Isótopos de Carbono , Hidrógeno , Lactasa , Intolerancia a la Lactosa , Metano , Humanos , Pruebas Respiratorias/métodos , Intolerancia a la Lactosa/diagnóstico , Intolerancia a la Lactosa/genética , Intolerancia a la Lactosa/metabolismo , Masculino , Femenino , Adulto , Hidrógeno/análisis , Hidrógeno/metabolismo , Lactasa/metabolismo , Lactasa/genética , Metano/metabolismo , Metano/análisis , Lactosa/metabolismo , Lactosa/orina , Prueba de Estudio Conceptual , Persona de Mediana Edad , Estudios de Casos y Controles , Dióxido de Carbono/metabolismo , Genotipo , Adulto Joven
6.
Arq Gastroenterol ; 61: e23104, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38451663

RESUMEN

BACKGROUND: Lactose tolerant test (LTT) is the most broadly used diagnostic test for lactose intolerance in Brazil, is an indirect, minimally invasive and a low-cost test that is widely available in primary care and useful in clinical practice. The C/T-13910 polymorphism in lactase persistence has been well characterized in Caucasian populations, but there are no studies evaluating the concordance between C/T-13910 polymorphism genotyping results and LTT results in Brazil, where the population is highly mixed. OBJECTIVE: We aimed to evaluate agreement between presence of C/T-13910 polymorphism genotyping and malabsorption in LTT results. METHODS: This is a retrospective analysis of a Brazilian population whose data were collected from a single laboratory database present in several Brazilian states. Results of individuals who underwent both genetic testing for lactose intolerance (C/T-13910 polymorphism genotyping) and an LTT from April 2016 until February 2019 were analysed to evaluate agreement between tests. Groups were classified according to age (<10-year-old (yo), 10-17 yo, ≥18 yo groups) and state of residence (São Paulo or Rio Grande do Sul). Results: Among the 404 patients evaluated, there was agreement between the genotyping and LTT results in 325 (80.4%) patients and discordance in 79 (19.6%) patients (k=0.42 -moderate agreement). Regarding the genotype, 47 patients with genotype C/C (lactase nonpersistence) had normal LTT results, and 32 with genotype C/T or T/T (indicating lactase persistence) had abnormal LTT results. Neither age nor state of residence (Rio Grande do Sul or São Paulo) affected the agreement between test results. CONCLUSION: Considering the moderate agreement between C/T-13910 polymorphism genotyping and LTT results (κ=0.42) in the Brazilian population, we hypothesize that an analysis of other polymorphisms could be a strategy to improve the agreement between genotyping and established tests and suggest that additional studies should focus on exploring this approach. BACKGROUND: • Lactose intolerance is highly prevalent and may be implicated as a cofactor, or as a differential diagnosis, in many gastrointestinal conditions. BACKGROUND: • The C/T-13910 polymorphism in lactase persistence is well characterized in Caucasian populations for lactase persistence. BACKGROUND: • Concordance between genotyping and functional tests does not occur in all patients. BACKGROUND: • Brazil has a highly mixed population and knowledge regarding presence of other polymorphisms is of importance in clarifying difficult cases.


Asunto(s)
Intolerancia a la Lactosa , Humanos , Niño , Prueba de Tolerancia a la Lactosa , Brasil , Intolerancia a la Lactosa/diagnóstico , Intolerancia a la Lactosa/genética , Genotipo , Estudios Retrospectivos , Lactasa/genética
7.
Dig Dis ; 42(3): 276-284, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38503268

RESUMEN

INTRODUCTION: There is no evidence that a positive breath test is a good predictor of the success of a carbohydrate-restricted diet. Our objective was to investigate whether patients in whom lactose intolerance (LIT) or fructose intolerance (FIT) is diagnosed by validated symptom measurement respond to diet. METHODS: Patients referred for evaluation of LIT or FIT underwent hydrogen/methane breath testing (malabsorption test) and symptom measurement with the adult Carbohydrate Perception Questionnaire (aCPQ, intolerance test) before and after 50 g lactose or 25 g fructose. Patients with a positive aCPQ received instructions on specific diets and supplements. Severity of abdominal pain, bloating, diarrhoea, flatulence, and nausea were measured using a visual analogue scale (VAS) before (VAS1, mm) and after (VAS2, mm) diet. The change in VAS for individual symptoms and overall symptoms after diet is expressed as deltaVAS (mm) and as change relative to VAS1 (%). RESULTS: Forty-one patients were included (23 LIT, 8 FIT, 10 LIT+FIT). Eight patients had negative breath tests (no malabsorption). After 2 months of diet, the overall VAS and the individual symptoms decreased (p < 0.001). Overall VAS1 and the VAS1 for individual symptoms correlated significantly with the decrease in deltaVAS (mm) after diet. Nineteen patients (46%) had total recovery, and additional 13 patients (32%) had improvement of >50%. Response to diet was independent of breath test results. CONCLUSION: This uncontrolled and unblinded study suggests that patients with carbohydrate intolerance diagnosed by aCPQ benefit significantly from diet, independent of the presence of malabsorption. Controlled studies are required to confirm these results in larger patient groups.


Asunto(s)
Pruebas Respiratorias , Intolerancia a la Fructosa , Intolerancia a la Lactosa , Humanos , Intolerancia a la Lactosa/dietoterapia , Intolerancia a la Lactosa/diagnóstico , Masculino , Femenino , Adulto , Intolerancia a la Fructosa/dietoterapia , Intolerancia a la Fructosa/diagnóstico , Encuestas y Cuestionarios , Persona de Mediana Edad , Dieta Baja en Carbohidratos , Carbohidratos de la Dieta , Fructosa
8.
Nutrients ; 16(2)2024 Jan 22.
Artículo en Inglés | MEDLINE | ID: mdl-38276558

RESUMEN

Cow's milk (CM) is a healthy food consumed worldwide by individuals of all ages. Unfortunately, "lactase-deficient" individuals cannot digest milk's main carbohydrate, lactose, depriving themselves of highly beneficial milk proteins like casein, lactoalbumin, and lactoglobulin due to lactose intolerance (LI), while other individuals develop allergies specifically against these proteins (CMPA). The management of these conditions differs, and an inappropriate diagnosis or treatment may have significant implications for the patients, especially if they are infants or very young children, resulting in unnecessary dietary restrictions or avoidable adverse reactions. Omics technologies play a pivotal role in elucidating the intricate interactions between nutrients and the human body, spanning from genetic factors to the microbiota profile and metabolites. This comprehensive approach enables the precise delineation and identification of distinct cohorts of individuals with specific dietary requirements, so that tailored nutrition strategies can be developed. This is what is called personalized nutrition or precision nutrition (PN), the area of nutrition that focuses on the effects of nutrients on the genome, proteome, and metabolome, promoting well-being and health, preventing diseases, reducing chronic disease incidence, and increasing life expectancy. Here, we report the opinion of the scientific community proposing to replace the "one size fits all" approach with tailor-made nutrition programs, designed by integrating nutrigenomic data together with clinical parameters and microbiota profiles, taking into account the individual lactose tolerance threshold and needs in terms of specific nutrients intake. This customized approach could help LI patients to improve their quality of life, overcoming depression or anxiety often resulting from the individual perception of this condition as different from a normal state.


Asunto(s)
Intolerancia a la Lactosa , Hipersensibilidad a la Leche , Lactante , Niño , Animales , Bovinos , Femenino , Humanos , Preescolar , Intolerancia a la Lactosa/genética , Intolerancia a la Lactosa/diagnóstico , Leche , Hipersensibilidad a la Leche/diagnóstico , Lactosa , Calidad de Vida , Proteínas de la Leche/efectos adversos
9.
J Appl Lab Med ; 9(1): 4-13, 2024 Jan 03.
Artículo en Inglés | MEDLINE | ID: mdl-37647590

RESUMEN

BACKGROUND: The -13910 C/T single nucleotide polymorphism located within the MCM6 gene, an enhancer region located upstream of the lactase-phlorizin hydrolase gene, is associated with lactase persistence/non-persistence traits among the Caucasian population. The performance of a new point-of-care CE-IVD (In Vitro Diagnostic) marked isothermal lab-on-phone lactose intolerance assay, using crude samples, was assessed in comparison with Sanger sequencing using purified DNA, as reference method. METHODS: The study was conducted following a non-probability sampling using direct buccal swab (n = 63) and capillary blood (n = 43) clinical samples from a total of 63 volunteers. A 3 × 3 confusion matrix/contingency table was used to evaluate the performance of the isothermal lab-on-phone lactose intolerance assay. RESULTS: The isothermal lab-on-phone lactose intolerance assay successfully detected the -13910 C/T variant with a limit of detection of 5 cells/assay and demonstrated an overall accuracy of 98.41% (95% CI, 91.47%-99.96%) for buccal swab samples and 100% (95% CI, 91.19%-100%) for capillary blood, taking just 90 min from sample to result, with only 2 min hands-on. CONCLUSIONS: The lab-on-phone pocket-sized assay displayed good performance when using direct buccal swab and capillary blood samples, enabling a low-cost, real-time, and accurate genotyping of the -13910 C/T region for the rapid diagnosis of primary lactose intolerance at point-of-care, which enables a prompt implementation of appropriate diet habits and/or intolerance therapies. To our knowledge, this is the first point-of-care genetic test for lactose intolerance to be made available on the market.


Asunto(s)
Intolerancia a la Lactosa , Humanos , Intolerancia a la Lactosa/diagnóstico , Intolerancia a la Lactosa/genética , Intolerancia a la Lactosa/epidemiología , Lactasa/genética , Sistemas de Atención de Punto , Genotipo , Pruebas en el Punto de Atención
10.
J Am Nutr Assoc ; 43(2): 213-220, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-37640502

RESUMEN

The majority (about 70%) of the world's population suffers from lactose intolerance. Lactose intolerance leads to long-term discomfort when consuming milk and dairy products, and hence, to their avoidance. Consequently, the intake of important nutrients is reduced, which potentially has a negative impact on the overall health. Knowing the condition - lactose intolerance - will prevent people from unnecessarily restricting dairy products in their diets. In this study, lactose synthesis and catabolism in the human body are presented, also the types of lactose intolerance, as well as the methods of diagnosing this condition, are discussed. Special attention is paid to the genetic causes of this discomfort and to the tests that can be performed. Solutions for the treatment of lactose intolerance have also been proposed, both up-to-date and easily applicable, as well as future developments.


This review highlights the lactose pathway ­ from the mammary gland production to recipient gut hydrolysis.Lactose intolerance associated SNPs known so far are presented and discussed.Advice for people with lactose intolerance is presented in the form of possible treatments and healthy feeding behaviors.


Asunto(s)
Intolerancia a la Lactosa , Humanos , Animales , Intolerancia a la Lactosa/diagnóstico , Lactasa/genética , Polimorfismo de Nucleótido Simple/genética , Dieta , Leche/efectos adversos
11.
Nutrients ; 15(23)2023 Nov 30.
Artículo en Inglés | MEDLINE | ID: mdl-38068827

RESUMEN

Most adverse reactions to food are patient self-reported and not based on validated tests but nevertheless lead to dietary restrictions, with patients believing that these restrictions will improve their symptoms and quality of life. We aimed to clarify the myths and reality of common food intolerances, giving clinicians a guide on diagnosing and treating these cases. We performed a narrative review of the latest evidence on the widespread food intolerances reported by our patients, giving indications on the clinical presentations, possible tests, and dietary suggestions, and underlining the myths and reality. While lactose intolerance and hereditary fructose intolerance are based on well-defined mechanisms and have validated diagnostic tests, non-coeliac gluten sensitivity and fermentable oligosaccharide, disaccharide, monosaccharide, and polyol (FODMAP) intolerance are mainly based on patients' reports. Others, like non-hereditary fructose, sorbitol, and histamine intolerance, still need more evidence and often cause unnecessary dietary restrictions. Finally, the main outcome of the present review is that the medical community should work to reduce the spread of unvalidated tests, the leading cause of the problematic management of our patients.


Asunto(s)
Hipersensibilidad a los Alimentos , Intolerancia a la Lactosa , Humanos , Intolerancia Alimentaria/complicaciones , Hipersensibilidad a los Alimentos/diagnóstico , Hipersensibilidad a los Alimentos/etiología , Calidad de Vida , Intolerancia a la Lactosa/diagnóstico , Intolerancia a la Lactosa/complicaciones , Dieta
12.
ACS Sens ; 8(12): 4728-4736, 2023 Dec 22.
Artículo en Inglés | MEDLINE | ID: mdl-38085692

RESUMEN

Breath hydrogen (H2) and methane (CH4) monitoring play an important role in the diagnosis of gastrointestinal disorders, such as lactose intolerance and small intestinal bacterial overgrowth (SIBO). In this paper, the photoacoustic spectroscopy method is used for H2 gas and CH4 gas detection. We present a novel approach for H2 gas concentration measurement, which is the linear relationship between the resonant frequency of breath carbon dioxide (CO2) and the H2 concentration in a resonant photoacoustic cell. Experimental results show that the minimum detectable limits of H2, CH4, and CO2 are calculated to be 8.86, 0.56, and 145.14 ppm, respectively, which can meet the requirements of breath diagnosis.


Asunto(s)
Líquidos Corporales , Intolerancia a la Lactosa , Humanos , Dióxido de Carbono , Intolerancia a la Lactosa/diagnóstico , Pruebas Respiratorias/métodos , Análisis Espectral
13.
Clin Nutr ; 42(12): 2540-2545, 2023 12.
Artículo en Inglés | MEDLINE | ID: mdl-37931373

RESUMEN

Lactose malabsorption is a very common condition due to intestinal lactase deficiency. Post weaning, a genetically programmed and irreversible reduction of lactase activity occurs in the majority of the world's population. Lactose malabsorption does not necessarily result in gastrointestinal symptoms, i.e. lactose intolerance, which occurs in approximately one third of those with lactase deficiency. In the absence of well-established guidelines, the common therapeutic approach tends to exclude milk and dairy products from the diet. However, this strategy may have serious nutritional disadvantages. Mainly in particular categories, such as the older adults, the approach to lactose malabsorption may deserve careful considerations. Milk and dairy products are an important supply of a wide range of nutrients that contribute to meet the nutritional needs in different life stages. Dietary composition can significantly impact the mechanisms leading to age-related loss of bone mineral density, skeletal muscle mass or function and overall risk of sarcopenia. Moreover, in the latest years, different lines of evidence have highlighted an association between dairy intake and prevention of chronic diseases as well as all-cause mortality. The aim of this opinion paper is to provide an overview of lactose malabsorption and intolerance in the older adults and their implications in clinical practice.


Asunto(s)
Enfermedades Gastrointestinales , Intolerancia a la Lactosa , Síndromes de Malabsorción , Humanos , Anciano , Animales , Intolerancia a la Lactosa/diagnóstico , Leche , Enfermedades Gastrointestinales/complicaciones , Dieta , Síndromes de Malabsorción/complicaciones , Lactasa/genética , Lactosa
14.
Nutrients ; 15(5)2023 Feb 27.
Artículo en Inglés | MEDLINE | ID: mdl-36904178

RESUMEN

Inflammatory bowel disease (IBD) involves two clinically defined entities, namely Crohn's disease and ulcerative colitis. Fecal calprotectin (FCAL) is used as a marker to distinguish between organic IBD and functional bowel disease in disorders of the irritable bowel syndrome (IBS) spectrum. Food components may affect digestion and cause functional abdominal disorders of the IBS spectrum. In this retrospective study, we report on FCAL testing to search for IBD in 228 patients with disorders of the IBS spectrum caused by food intolerances/malabsorption. Included were patients with fructose malabsorption (FM), histamine intolerance (HIT), lactose intolerance (LIT), and H. pylori infection. We found elevated FCAL values in 39 (17.1%) of 228 IBS patients with food intolerance/malabsorption and H. pylori infection. Within these, fourteen patients were lactose intolerant, three showed fructose malabsorption, and six had histamine intolerance. The others had combinations of the above conditions: five patients had LIT and HIT, two patients had LIT and FM, and four had LIT and H. pylori. In addition, there were individual patients with other double or triple combinations. In addition to LIT, IBD was suspected in two patients due to continuously elevated FCAL, and then found via histologic evaluation of biopsies taken during colonoscopy. One patient with elevated FCAL had sprue-like enteropathy caused by the angiotensin receptor-1 antagonist candesartan. When screening for study subjects concluded, 16 (41%) of 39 patients with initially elevated FCAL agreed to voluntarily control FCAL measurements, although symptom-free and -reduced, following the diagnosis of intolerance/malabsorption and/or H. pylori infection. After the initiation of a diet individualized to the symptomatology and eradication therapy (when H. pylori was detected), FCAL values were significantly lowered or reduced to be within the normal range.


Asunto(s)
Intolerancia a la Fructosa , Enfermedades Inflamatorias del Intestino , Síndrome del Colon Irritable , Intolerancia a la Lactosa , Síndromes de Malabsorción , Humanos , Síndrome del Colon Irritable/diagnóstico , Intolerancia Alimentaria , Complejo de Antígeno L1 de Leucocito , Estudios Retrospectivos , Histamina , Enfermedades Inflamatorias del Intestino/diagnóstico , Intolerancia a la Lactosa/diagnóstico , Intolerancia a la Fructosa/diagnóstico , Dieta , Fructosa , Heces
15.
Nutrients ; 15(4)2023 Feb 20.
Artículo en Inglés | MEDLINE | ID: mdl-36839406

RESUMEN

The hypothesis is that inflammatory/allergic conditions should be considered in self-reported milk intolerance (SRMI) patients who test negative and/or are asymptomatic at Lactose Hydrogen Breath Test (LHBT). We analyzed fecal calprotectin (FCP) values in SRMI patients to investigate the frequency of a "positive" intestinal inflammation marker and its correlation with lactose tolerance/intolerance. Data from 329 SRMI patients were retrospectively analyzed; according to the positive/negative results (maldigester/digester) and the presence/absence of symptoms reported during LHBT (intolerant/tolerant), patients were divided into: 'lactose tolerants' (n. 104), 'maldigesters/intolerants' (n. 187), 'digesters/intolerants' (n. 38). FCP values were analyzed in all three subgroups. A percentage of SRMI patients complained of constipation (>15%), extraintestinal symptoms (>30% including anemia), multiple food hypersensitivity (7.6%) and had intraepithelial lymphocytic infiltration at duodenal biopsy (>50%). Over 50.0% showed FCP values above the normal limit. Lactose tolerants and maldigesters/intolerants had higher positivity frequencies (p < 0.0001, for both) and absolute values (p = 0.04, for maldigesters/intolerants) of FCP compared to digesters/intolerants. FCP was not useful to differentiate tolerant from intolerant subjects (AUC 0.58). Our data suggest the existence of an allergic/inflammatory pathogenetic mechanism in a subset of SRMI subjects. FCP results are in keeping with this hypothesis, even if they cannot differentiate lactose tolerant from intolerant patients.


Asunto(s)
Hipersensibilidad , Intolerancia a la Lactosa , Humanos , Animales , Intolerancia a la Lactosa/diagnóstico , Lactosa , Autoinforme , Leche , Estudios Retrospectivos , Pruebas Respiratorias
16.
Ann Clin Biochem ; 60(4): 243-248, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-36750424

RESUMEN

BACKGROUND: Lactose intolerance is defined as the presence of gastrointestinal symptoms, such as bloating, abdominal pain or diarrhoea, after consumption of lactose in individuals with lactose malabsorption. Most cases involve primary lactose intolerance, caused by a loss of activity of the enzyme lactase, needed for digestion of lactose. A traditional method of establishing lactose intolerance is the hydrogen breath test (HBT), accompanied by a questionnaire to document complaints experienced by the patient during the test. Due to knowledge on lactase-persistent alleles, DNA genotyping has become available for the diagnostic work-up for lactose intolerance. Both methods are currently in use. The aim of this study is to provide a definite diagnostic approach for patients suspected of lactose intolerance in a Dutch population. METHODS: In this retrospective, observational study, patients aged 15 years or older were included after presenting to their treating physician with symptoms suggestive of lactose intolerance. HBT, including a questionnaire to document complaints and DNA genotyping of LCT-13,910 C/T was performed for each patient as part of a routine diagnostic work-up. RESULTS: 1101 patients were included (29% men). Positive and negative predictive value, sensitivity and specificity of HBT versus DNA genotyping were 80% (CI 75-84), 97% (CI 96-98), 89% (CI 84-92) and 94% (92-96) respectively. The use of the questionnaire added little diagnostic value. CONCLUSIONS: In a population with a high prevalence of lactase-persistent alleles, we advise to exclude HBT from the diagnostic route for suspected lactose intolerance, and replace it with genotyping of lactase-persistent alleles.


Asunto(s)
Intolerancia a la Lactosa , Masculino , Humanos , Femenino , Intolerancia a la Lactosa/diagnóstico , Intolerancia a la Lactosa/genética , Intolerancia a la Lactosa/epidemiología , Lactosa , Genotipo , Estudios Retrospectivos , Lactasa/genética , Pruebas Respiratorias/métodos , ADN , Hidrógeno
17.
Minerva Gastroenterol (Torino) ; 69(3): 329-334, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-33829725

RESUMEN

BACKGROUND: Irritable bowel syndrome (IBS) is a multifactorial condition without any specific investigation. Fecal calprotectin (FC) may be elevated in IBS without any explanation. In addition, some patients with IBS have symptoms related to lactose intolerance. Our main aim was to investigate whether an increase in FC could be related to lactose intolerance in patients with IBS. METHODS: In this retrospective single-center study, all patients with IBS who have underwent a FC test and a lactose respiratory test within a period of less than 6 months were eligible. A FC greater than or equal to 50 µg/g was considered abnormal. RESULTS: Severnty-six patients (48 females), mean age 38±15 years were included. Symptoms were respectively: bloating in 57%, diarrhea in 76% and abdominal pain in 46% of cases. Among the 76 patients: 22 (29%) had FC≥50 µg/g and 9/22 (41%) had a positive lactose test. No significant relationship could be identified between the increase in FC and the lactose test positivity. The value of the FC was also not related to the subtype of IBS or the positivity of the glucose test. CONCLUSIONS: In our study, the increase in FC was not significantly related to the presence of lactose intolerance. Nevertheless, our work, despite its originality, is limited by its retrospective nature and small number of patients. Future studies including larger numbers of patients may identify the causes of elevated FC in patients with IBS to individualize different subgroups of patients to best adapt therapeutic management.


Asunto(s)
Síndrome del Colon Irritable , Intolerancia a la Lactosa , Femenino , Humanos , Adulto Joven , Adulto , Persona de Mediana Edad , Intolerancia a la Lactosa/complicaciones , Intolerancia a la Lactosa/diagnóstico , Síndrome del Colon Irritable/complicaciones , Síndrome del Colon Irritable/diagnóstico , Lactosa , Estudios Retrospectivos , Complejo de Antígeno L1 de Leucocito
18.
Eur J Pediatr ; 182(2): 867-875, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-36512149

RESUMEN

Adverse food reactions have become an important health concern in pediatrics. There are discrepancies between diagnosed and self-reported food allergies and intolerances, leading to food avoidance with possible psychological and nutritional implications in the latter. There is no data available so far on the number of children and adolescents, who reduce or completely avoid certain foods in their diet. The aim of this study was to determine the prevalence of children and adolescents in the Northwest of Switzerland, who omit foods from their diet because of a self-reported intolerance, as well as the prevalence of children and adolescents who eliminate well-tolerated foods for presumed health reasons. This is a cross-sectional study conducted in the Children's hospitals of Aarau and Basel (Switzerland) and in 4 pediatric private practices. A total of 2036 children and adolescents (54% male and 46% female) between 1 month and 18 years (mean age: 7.4 years) were included, of which 316 (16%) participants reported to avoid foods due to intolerance. Lactose intolerance is the most frequent one. In 55% of all cases, no medical tests had been performed to confirm such an intolerance. Avoiding tolerated foods for presumed health reasons was stated by 251 (12%) participants.  Conclusions: Clinicians should be aware of the high frequency of food avoidance in the pediatric population due to true intolerance, functional diseases, or due to lifestyle reasons. Milk is the most avoided food and half of the affected patients avoid foods without guidance by professional dieticians, therefore risking possible negative impacts on their physical and mental health. Pediatricians should perform further investigations or advise nutritional guidance if an avoidance of foods or specific diets occurs. What is Known: • The prevalence of food intolerances in children and adolescents is unknown. • Eating behavior in children is influenced by the consumption of social media. What is New: • Based on this large cross-sectional study, it was shown that 16% of children and adolescents avoid foods, half of them without any medical advice. • Food avoidance is common among this Swiss cohort of children because of different reasons: lifestyle habits, functional diseases, true intolerances with possible consequences such as micronutrient deficiencies if not properly monitored.


Asunto(s)
Hipersensibilidad a los Alimentos , Intolerancia a la Lactosa , Niño , Humanos , Masculino , Femenino , Adolescente , Intolerancia Alimentaria , Suiza/epidemiología , Estudios Transversales , Hipersensibilidad a los Alimentos/epidemiología , Hipersensibilidad a los Alimentos/diagnóstico , Intolerancia a la Lactosa/complicaciones , Intolerancia a la Lactosa/diagnóstico , Intolerancia a la Lactosa/epidemiología , Alérgenos
19.
J Med Food ; 25(10): 1003-1010, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-36179067

RESUMEN

Although lactose-free dairy products for the clinical management of lactose intolerance (LI) are widely available, scientific evidence on their efficacy is still lacking. This study comparatively analyzed the efficacy of flavored lactose-free milk (LFM) and whole milk (WM) in reducing symptoms in South Korean adults with LI. This prospective study was conducted in adults suspected of LI. All screened participants underwent the hydrogen breath test (HBT) using 570 mL of chocolate-flavored WM (20 g of lactose) and responded to a symptom questionnaire. LI was confirmed when the ΔH2 peak exceeded 16 ppm above baseline values and with the occurrence of symptoms after WM consumption. The participants who were diagnosed with LI underwent the HBT again with 570 mL of chocolate-flavored LFM (0 g of lactose), followed by the symptom questionnaire survey after 1 week. After excluding 40 participants who did not meet the diagnostic criteria for LI and 2 who were lost to follow-up, a total of 28 lactose-intolerant individuals were enrolled in the study. The ΔH2 values in the first HBT were significantly higher than those in the second HBT (33.3 ± 21.6 ppm vs. 8.6 ± 6.3 ppm, P < .001). Similarly, there was a significant reduction in the total symptom score in the second HBT (4.18 ± 1.51 vs. 0.61 ± 0.98, P < .001). Flavored LFM is well tolerated in South Korean adults diagnosed with LI based on the HBT and symptom questionnaire results. Therefore, LFM may be a viable alternative to WM.


Asunto(s)
Intolerancia a la Lactosa , Adulto , Humanos , Animales , Intolerancia a la Lactosa/diagnóstico , Intolerancia a la Lactosa/epidemiología , Lactosa , Leche/química , Estudios Prospectivos , Hidrógeno , República de Corea
20.
Artículo en Inglés | MEDLINE | ID: mdl-36011869

RESUMEN

Background: Dairy products are frequently considered responsible for post-prandial symptoms and are withdrawn from the diet, even against medical advice. We analysed the symptoms patients consider as lactose related; we also evaluated if psychological profile may affect the interpretation of the relationship between lactose and symptoms. Methods: In 268 patients undergoing lactose breath test, symptoms considered evoked by lactose intake were recorded and their severity measured. In the second part, symptom onset of 40 randomly selected patients was detected after both lactose and glucose breath test were blindly performed. Questionnaires evaluating anxiety, suggestibility and personality trait were administered. Key Results: Symptoms depending on functional gastrointestinal disorders or reflux disease were frequent in self-reported lactose-intolerant patients. In comparison with lactose malabsorption, these symptoms proved to be more frequent in patients with negative lactose breath test. The blinded administration of lactose and glucose demonstrated that a correct link between lactose intake and symptom onset was possible, only in 47.5% of the subjects, making this test inaccurate. None of the investigated psychological characteristics were different between patients with a nocebo response and patients not experiencing nocebo. Conclusions: Patients with self-reported lactose intolerance are frequently unaware about clinical presentation of this condition, and correct information is needed. The detection of symptom onset after lactose is an inaccurate test for lactose intolerance. Furthermore, the analysis of psychological characteristics of patients undergoing hydrogen breath test is not useful to select the subgroup at risk for a nocebo response. New strategies to diagnose lactose intolerance are mandatory.


Asunto(s)
Intolerancia a la Lactosa , Pruebas Respiratorias , Glucosa , Humanos , Lactosa , Intolerancia a la Lactosa/diagnóstico , Percepción
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