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Clinics in Geriatric Medicine Feb 2021Diarrhea is a fairly common problem among the elderly that has a higher morbidity and mortality compared with the general population. There are multiple reasons for... (Review)
Review
Diarrhea is a fairly common problem among the elderly that has a higher morbidity and mortality compared with the general population. There are multiple reasons for diarrhea in the elderly that can be stratified by different mechanisms: infectious, osmotic, secretory, inflammatory, and malabsorptive. Oral hydration and dietary management are the basic management principles for all forms of diarrhea but specific treatment should address the root cause of diarrhea in order to improve outcomes.
Topics: Age Distribution; Age Factors; Aged; Diarrhea; Dysentery; Humans; Malabsorption Syndromes
PubMed: 33213765
DOI: 10.1016/j.cger.2020.08.008 -
Current Opinion in Gastroenterology May 2019Chronic diarrhoea remains a diagnostic challenge, with numerous causes and few effective symptomatic treatments. This review focuses on new methods for diagnosis of... (Review)
Review
PURPOSE OF REVIEW
Chronic diarrhoea remains a diagnostic challenge, with numerous causes and few effective symptomatic treatments. This review focuses on new methods for diagnosis of common disorders and alerts readers to rarer causes through a systematic approach to the underlying mechanisms.
RECENT FINDINGS
New strategies are emerging to stratify the need for endoscopic investigation. Faecal immunochemical testing, combined with standard blood tests, shows promise in excluding colorectal cancers, adenoma and inflammatory bowel disease, challenging the current use of faecal calprotectin. Serum analysis for markers of bile acid synthesis has been refined, potentially streamlining diagnostic pathways of bile acid malabsorption for those who are unable to access nuclear medicine scans, but the positive predictive value of faecal elastase in low prevalence populations has been questioned. Novel markers such as volatile organic compounds and stool DNA analyses continue to develop.
SUMMARY
A systematic approach to investigation of chronic diarrhoea will ensure all relevant causes are considered and minimize the chance of a missed diagnosis. Combination of clinical features with noninvasive testing supports a judicious approach to endoscopic investigations but further innovation will be needed to resolve the diagnostic challenge that diarrhoea poses.
Topics: Adenocarcinoma; Adenoma; Antidiarrheals; Bile Acids and Salts; Celiac Disease; Chronic Disease; Colorectal Neoplasms; Diarrhea; Exocrine Pancreatic Insufficiency; Feces; Gastrointestinal Agents; Humans; Iatrogenic Disease; Imidazoles; Immunochemistry; Inflammatory Bowel Diseases; Irritable Bowel Syndrome; Leukocyte L1 Antigen Complex; Loperamide; Malabsorption Syndromes; Phenylalanine; Steatorrhea
PubMed: 30883385
DOI: 10.1097/MOG.0000000000000516 -
Current Opinion in Gastroenterology Mar 2020Disaccharidase testing, as applied to the evaluation of gastrointestinal disturbances is available but it is not routinely considered in the diagnostic work-up. The... (Review)
Review
PURPOSE OF REVIEW
Disaccharidase testing, as applied to the evaluation of gastrointestinal disturbances is available but it is not routinely considered in the diagnostic work-up. The purpose of this review was to determine if disaccharidase testing is clinically useful and to consider how the results could alter patient management.
RECENT FINDINGS
Indicate that carbohydrate maldigestion could contribute functional bowel disorders and negatively impact the fecal microbiome. Diagnostic techniques include enzyme activity assays performed on random endoscopically obtained small intestinal biopsies, immunohistochemistry, stable isotope tracer and nonenriched substrate load breath testing, and genetic testing for mutations. More than 40 sucrase--isomaltase gene variants coding for defective or reduced enzymatic activity have been reported and deficiency conditions are more common than previously thought.
SUMMARY
The rationale for disaccharidase activity testing relates to a need to fully assess unexplained recurrent abdominal discomfort and associated symptoms. All disaccharidases share the same basic mechanism of mucosal expression and deficiency has far reaching consequences. Testing for disaccharidase expression appears to have an important role in symptom evaluation, but there are accuracy and logistical issues that should be considered. It is likely that specific recommendations for patient management, dietary modification, and enzyme supplementation would come from better testing methods.
Topics: Disaccharidases; Fermentation; Gastrointestinal Diseases; Gastrointestinal Microbiome; Humans; Malabsorption Syndromes
PubMed: 31990709
DOI: 10.1097/MOG.0000000000000614 -
Chest May 2017Cystic fibrosis (CF) is a life-shortening autosomal recessive disorder caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator... (Review)
Review
Cystic fibrosis (CF) is a life-shortening autosomal recessive disorder caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR). CFTR is an anion channel that conducts bicarbonate and chloride across cell membranes. Although defective anion transport across epithelial cells is accepted as the basic defect in CF, many of the features observed in people with CF and organs affected by CF are modulated by the nervous system. This is of interest because CFTR expression has been reported in both the peripheral and central nervous systems, and it is well known that the transport of anions, such as chloride, greatly modulates neuronal excitability. Thus it is predicted that in CF, lack of CFTR in the nervous system affects neuronal function. Consistent with this prediction, several nervous system abnormalities and nervous system disorders have been described in people with CF and in animal models of CF. The goal of this special feature article is to highlight the expression and function of CFTR in the nervous system. Special emphasis is placed on nervous system abnormalities described in people with CF and in animal models of CF. Finally, features of CF that may be modulated by or attributed to faulty nervous system function are discussed.
Topics: Animals; Autonomic Nervous System; Central Nervous System; Cough; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Disease Models, Animal; Exocrine Pancreatic Insufficiency; Gastrointestinal Motility; Gastrointestinal Tract; Heart; Humans; Intestinal Obstruction; Malabsorption Syndromes; Muscle Contraction; Muscle, Smooth; Pancreas; Peripheral Nervous System; Respiratory System; Sweating
PubMed: 27876591
DOI: 10.1016/j.chest.2016.11.009 -
Food and Nutrition Bulletin Mar 2015Environmental enteric dysfunction (EED) refers to an incompletely defined syndrome of inflammation, reduced absorptive capacity, and reduced barrier function in the... (Review)
Review
BACKGROUND
Environmental enteric dysfunction (EED) refers to an incompletely defined syndrome of inflammation, reduced absorptive capacity, and reduced barrier function in the small intestine. It is widespread among children and adults in low- and middle-income countries. Understanding of EED and its possible consequences for health is currently limited.
OBJECTIVE
A narrative review of the current understanding of EED: epidemiology, pathogenesis, therapies, and relevance to child health.
METHODS
Searches for key papers and ongoing trials were conducted using PUBMED 1966-June 2014; ClinicalTrials.gov; the WHO Clinical Trials Registry; the Cochrane Library; hand searches of the references of retrieved literature; discussions with experts; and personal experience from the field.
RESULTS
EED is established during infancy and is associated with poor sanitation, certain gut infections, and micronutrient deficiencies. Helicobacter pylori infection, small intestinal bacterial overgrowth (SIBO), abnormal gut microbiota, undernutrition, and toxins may all play a role. EED is usually asymptomatic, but it is important due to its association with stunting. Diagnosis is frequently by the dual sugar absorption test, although other biomarkers are emerging. EED may partly explain the reduced efficacy of oral vaccines in low- and middle-income countries and the increased risk of serious infection seen in children with undernutrition.
CONCLUSIONS
Despite its potentially significant impacts, it is currently unclear exactly what causes EED and how it can be treated or prevented. Ongoing trials involve nutritional supplements, water and sanitation interventions, and immunomodulators. Further research is needed to better understand this condition, which is of likely crucial importance for child health and development in low- and middle-income settings.
Topics: Adult; Bacterial Infections; Blind Loop Syndrome; Child, Preschool; Environment; Growth Disorders; Humans; Infant; Inflammation; Intestinal Diseases; Intestines; Malabsorption Syndromes; Poverty; Sanitation
PubMed: 25902619
DOI: 10.1177/15648265150361S113 -
Vnitrni Lekarstvi 2020Celiac disease is a lifelong autoimmune disorder that occurs in genetically predisposed people when consuming gluten. Its prevalence is around 1% of the population with...
Celiac disease is a lifelong autoimmune disorder that occurs in genetically predisposed people when consuming gluten. Its prevalence is around 1% of the population with about twice higher proportion of women. Celiac disease is one of the most common causes of malabsorption, however, its manifestations can be quite diverse - from completely asymptomatic to fully developed malabsorption syndrome. Extraintestinal manifestations are a common finding in adults. The gold standard of diagnosis is the serological detection of specific antibodies (the serum tissue transglutaminase IgA antibodies) in combination with a typical histological finding from a duodenal biopsy. Causal treatment is a lifelong gluten-free diet. Strict adherence to gluten-free diet will reduce the risk of serious complications (intestinal T-cell lymphoma). In the following case report we present a case of a 58-year-old patient, who have been diagnosed with celiac disease at this age based on non-classical symptoms. Specifically, these were multiple pathological fractures from metabolic bone disease due to malabsorption of calcium and vitamin D and subsequent secondary hyperparathyroidism.
Topics: Adult; Autoantibodies; Biopsy; Celiac Disease; Diet, Gluten-Free; Female; Glutens; Humans; Middle Aged
PubMed: 32942892
DOI: No ID Found -
FP Essentials May 2022Malabsorption syndromes are a heterogenous group of conditions that can cause distressing gastrointestinal symptoms. Celiac disease is most common and is triggered by...
Malabsorption syndromes are a heterogenous group of conditions that can cause distressing gastrointestinal symptoms. Celiac disease is most common and is triggered by exposure to gluten. Tissue transglutaminase immunoglobulin A is the diagnostic test of choice; management is gluten avoidance. Lactose intolerance is caused by absence or declining levels of the enzyme lactase. Diagnosis typically is clinical, but breath tests can be helpful if diagnosis is uncertain. Management is lactose avoidance. Bile acid malabsorption results in unabsorbed bile acids in the colon, leading to diarrhea. The 75selenium homotaurocholic acid test is most accurate but is not widely available. Therefore, a trial of bile acid sequestrants (typically cholestyramine) is a reasonable alternative when the diagnosis is suspected. Exocrine pancreatic insufficiency is caused by decreased production of pancreatic enzymes, typically occurring in patients with preexisting pancreatic damage from alcohol, surgery, radiation, diabetes, or cystic fibrosis. Diagnosis involves fecal fat or fecal elastase-1 tests. Management is pancreatic enzyme replacement. Small intestinal bacterial overgrowth is caused by pathologic overgrowth of the small bowel microbiome. Diagnosis is by jejunal biopsy or, more commonly, breath tests. Antibiotics (typically rifaximin) are the initial management. Other options include dietary changes, probiotics, and prokinetic drugs.
Topics: Bile Acids and Salts; Celiac Disease; Glutens; Humans; Lactose Intolerance; Malabsorption Syndromes
PubMed: 35507311
DOI: No ID Found -
Nutrients Feb 2023Inflammatory bowel disease (IBD) involves two clinically defined entities, namely Crohn's disease and ulcerative colitis. Fecal calprotectin (FCAL) is used as a marker...
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 infection. We found elevated FCAL values in 39 (17.1%) of 228 IBS patients with food intolerance/malabsorption and 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 . 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 infection. After the initiation of a diet individualized to the symptomatology and eradication therapy (when was detected), FCAL values were significantly lowered or reduced to be within the normal range.
Topics: Humans; Irritable Bowel Syndrome; Food Intolerance; Leukocyte L1 Antigen Complex; Retrospective Studies; Histamine; Malabsorption Syndromes; Inflammatory Bowel Diseases; Lactose Intolerance; Fructose Intolerance; Diet; Fructose; Feces
PubMed: 36904178
DOI: 10.3390/nu15051179 -
Human Mutation Dec 2018Hyaline fibromatosis syndrome (HFS) is the unifying term for infantile systemic hyalinosis and juvenile hyaline fibromatosis. HFS is a rare autosomal recessive disorder... (Review)
Review
Hyaline fibromatosis syndrome (HFS) is the unifying term for infantile systemic hyalinosis and juvenile hyaline fibromatosis. HFS is a rare autosomal recessive disorder of the connective tissue caused by mutations in the gene for anthrax toxin receptor-2 (ANTXR2). It is characterized by abnormal growth of hyalinized fibrous tissue with cutaneous, mucosal, osteoarticular, and systemic involvement. We reviewed the 84 published cases and their molecular findings, aiming to gain insight into the clinical features, prognostic factors, and phenotype-genotype correlations. Extreme pain at minimal handling in a newborn is the presentation pattern most frequently seen in grade 4 patients (life-limiting disease). Gingival hypertrophy and subcutaneous nodules are some of the disease hallmarks. Though painful joint stiffness and contractures are almost universal, weakness and hypotonia may also be present. Causes of death are intractable diarrhea, recurrent infections, and organ failure. Median age of death of grade 4 cases is 15.0 months (p25-p75: 9.5-24.0). This review provides evidence to reinforce the previous hypothesis that missense mutations in exons 1-12 and mutations leading to a premature stop codon lead to the severe form of the disease, while missense pathogenic variants in exons 13-17 lead to the mild form of the disease. Multidisciplinary team approach is recommended.
Topics: Female; Humans; Hyaline Fibromatosis Syndrome; Infant; Interdisciplinary Communication; Malabsorption Syndromes; Male; Microvilli; Mucolipidoses; Multiple Organ Failure; Mutation, Missense; Pain; Phenotype; Prognosis; Rare Diseases; Receptors, Peptide
PubMed: 30176098
DOI: 10.1002/humu.23638 -
Nutrients Mar 2021Carbohydrate malabsorption is a frequent digestive problem associated with abdominal pain, bloating and diarrhea. Hydrogen breath testing (BT) represents the most... (Review)
Review
BACKGROUND
Carbohydrate malabsorption is a frequent digestive problem associated with abdominal pain, bloating and diarrhea. Hydrogen breath testing (BT) represents the most reliable and validated diagnostic technique. The aim of this manuscript was to clarify the usefulness of BTs in the nutritional management of these disorders.
METHODS
A literature search for BT related to carbohydrate malabsorption was carried out using the online databases of Pubmed, Medline and Cochrane.
RESULTS
Lactose BT showed good sensitivity and optimal specificity for lactose malabsorption. However, an accurate diagnosis of lactose intolerance should require blind lactose challenge although this method is difficult to utilize in clinical practice. Regarding dose-depending fructose and sorbitol malabsorption, BTs could not add diagnostic advantage compared with a direct dietary intervention. In addition, carbohydrates are fundamental components of fermentable oligo-, di- and monosaccharides and polyols (FODMAPs). Before starting a low FODMAP diet, lactose BT should be suggested in a population with low prevalence of hypolactasia.
CONCLUSIONS
BTs represent a valid and noninvasive technique in many digestive conditions. Regarding the management of carbohydrate intolerance, lactose BT can be recommended with some limitations. No sufficient evidence is available about the usefulness of BTs for other sugars in clinical practice.
Topics: Breath Tests; Carbohydrate Metabolism; Humans; Hydrogen; Malabsorption Syndromes
PubMed: 33802839
DOI: 10.3390/nu13030974