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MALABSORPTİON SYNDROME Prof. Dr. Tufan KUTLU. Malabsorption Malabsorption can be defined as subnormal intestinal absorption of dietary constituents, and.

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Presentation on theme: "MALABSORPTİON SYNDROME Prof. Dr. Tufan KUTLU. Malabsorption Malabsorption can be defined as subnormal intestinal absorption of dietary constituents, and."— Presentation transcript:

1 MALABSORPTİON SYNDROME Prof. Dr. Tufan KUTLU

2 Malabsorption Malabsorption can be defined as subnormal intestinal absorption of dietary constituents, and thus excessive loss of nutrients in the stool; it may be due to a digestive defect, a mucosal abnormality, or lymphatic obstruction.” Malabsorption can be defined as subnormal intestinal absorption of dietary constituents, and thus excessive loss of nutrients in the stool; it may be due to a digestive defect, a mucosal abnormality, or lymphatic obstruction.”

3 Characteres of stools in childhood 0-6 months Breast milk1-12/day yellow to braun pH: 5 Formula1-7/day yellow to braun pH: 7 6 months-1 year 2-3/day braun >1 year as adult 5-10g/kg/day

4 Diarrhea Diarrhea  Increase in the number of stools or a decrease in their consistency Constipation Constipation  Decrease in the number of stools or an increase in their consistency

5 Malabsorption syndrome Chronic diarrhea Chronic diarrhea Protuberant abdomen Protuberant abdomen Vomiting Vomiting Weigth loss Weigth loss Short stature Short stature Anorexia.. Anorexia..

6 Digestion of carbohydrates Carbohydrates Carbohydrates  Starch 50 %  Sucrose %  Lactose % Monosaccharides Monosaccharides  Glycose  Galactose  Fructose Enzymes  Salivary amylase  Pancreatic amylase  Disaccharidase  Sucrase-isomaltase  Glucoamylase  Lactase

7 Carbohydrate malabsorption Sucrase-izomaltase deficiency Sucrase-izomaltase deficiency Primary lactase deficiency Primary lactase deficiency Late onset lactase deficiency Late onset lactase deficiency Glycose-galactose malabsorption Glycose-galactose malabsorption Secondary disaccharidase deficiency Secondary disaccharidase deficiency

8 Digestion of proteins Gastric asid Enterokinase Pancreatic proteases

9 Protein malabsorption Kongenital enterokinase deficiency Pancreatic enzyme deficiency Aminoacid transport defects

10 Digestion of lipids Gastric lipase Pancreatic lipase Bile acids Absorption

11 Steatorrhea Pancreatic deficiency Pancreatic deficiency  Congenital  Cystic fibrosis  Shwachman-Diamond syndrome  Johanson-Blizzard syndrome  Pearson’s syndrome  Acquired  Chronic pancreatitis

12 Steatorrhea Bile acid deficiency Bile acid deficiency  Diminution of synthesis in the liver  Bile duct atresia  İncrease of bacterial deconjugation  Diminution of ileal reabsorption (Crohn’s disease, ileal resection, short gut)  Drugs (cholestyramine)

13 Steatorrhea Abetalipoproteinemia Abetalipoproteinemia  Retinitis pigmentosa  Neurologic symptoms  Achantocytosis  Cholesterol very low  Treatment: no fat, MCT, vitamine ADEK supplementation Hypobetalipoproteinemia Hypobetalipoproteinemia

14 Steatorrhea Intestinal lymphangiectasia Intestinal lymphangiectasia  Hypoalbuminemia  Lymphopenia  Edema Mucosal absorption disorders Mucosal absorption disorders  Celiac disease  Short gut

15 Gastrointestinal diseases associated with maldigestion and malabsorption Intraluminal digestion StomachPernicious anemia

16 Gastrointestinal diseases associated with maldigestion and malabsorption Intraluminal digestion PankreasCystic fibrosis Shwachman-Diamond syndrome Acute/chronic pancreatitis Tyripsinogen deficiency Lipase deficiency Amylase deficiency

17 Gastrointestinal diseases associated with maldigestion and malabsorption Intraluminal digestion Liver İntestine Cholestasis syndromes Enterokinase deficiency Short bowel syndrome

18 Gastrointestinal diseases associated with maldigestion and malabsorption Digestion at the enterocyte membrane Congenital disaccharidase deficiency Acquired/late-onset disaccharidase deficiency Lactase Sucrase-isomaltase Trehalase Lactase Sucrase-isomaltase Glucoamylase

19 Gastrointestinal diseases associated with maldigestion and malabsorption Enterocyte absorptionGlucose-galactose malabsorption Congenital chloride diarrhea Abetalipoproteinemia Hypobetalipoproteinemia Celiac disease Short bowel syndrome Milk/soy protein intolerance Whipple’s disease Inflamatory bowel disease Infections Acrodermatitis enteropathica

20 Gastrointestinal diseases associated with maldigestion and malabsorption Uptake into blood and lymph Miscellaneus disorders Congestive heart failure Constrictive pericarditis Intestinal lymphangiectasia Intestinal lymphoma Carsinoid syndrome Immun deficiency syndromes Allergic gastroenteropathy Eosinophilic gastroenteropathy Drugs

21 Presenting symptoms Chronic diarrhea Rectal bleeding Meteorismus Abdominal pain Weigth loss Failure to thrive Constipation Tenesmus Vomiting Anorexia Pallor Weakness Fever Geophagia

22 Physical findings Weigth loss Short stature Protuberant abdomen Ascites Edema Hepatomegaly Splenomegaly Clubbing Pallor Gingival hipertrophy Aphthous mouth ulcers Arthritis Eritema nodosum Uveitis, episcleritis

23 Diagnostic studies in the evaluation of maldigestion and malabsorption I Stool examination for blood, leukocytes, reducing substances, C. difficile toxin, ova and parasites and cultures for infectious bacterial pathogens Complete blood count, serum electrolytes, blood urea nitrogen, creatinine, calcium, phosphorus, albumin, total protein Urinalysis and culture

24 Diagnostic studies in the evaluation of maldigestion and malabsorption II Sweat chloride test Breath analysis D-Xylose test Serum carotene, folate, B12, and iron levels Fecal alpha-1-antitrypsin level Fecal fat studies or coefficient of fat absorption studies

25 Diagnostic studies in the evaluation of maldigestion and malabsorption III Fat-soluble vitamin levels: A, D, E, K Contrast radiographic studies: upper gastrointestinal series, or barium enema Gastroscopie/colonoscopie Small intestinal biopsy for histology, and mucosal enzyme determination

26 Antibodies Anti-gliadin ab Anti-endomisium ab Anti-transglutaminase ab Autoantibody p-ANCA, ASCA

27 Sweat test indications Failure to thrive Chronic diarrhea Rectal prolapsus Neonatal cholestasis Cirrhosis Pancreatitis Recurrent pulmonary infections Nasal polyps Meconium ileus Positive family history

28 Disorders with sweat test positivity Cystic fibrosis Adrenal insufficiency Protein-calorie malnutrition Neonatal cholestasis G-6-PD deficiency Pancreatitis Glycogen storage diseases Hypoparathyroidism Hypothyroidism Nephrogenic diabetes insipidus Ectodermal dysplasia

29 Causes of villous atrophy in infants and children Peptic duodenitis Celiac disease Acute gastroenteritis Cow’s milk and soy protein intolerance Eosinophilic gastroenteritis Immunodeficiency: congenital, acquired, AIDS Crohn’s disease Protein-calorie malnutrition Total parenteral nutrition Bacterial overgrowth or stasis Microvillus inclusion disease Autoimmune enteropathy Giardiasis

30 Relative value of a small-bowel biopsy Diagnostic biopsy Celiac disease Congenital microvillous atrophy Immunodeficiency Eosinophilic gastroenteritis Crohn’s disease Abetalipoproteinemia Chylomicron retention disease Lymphangiectasia (mucosal type) Diagnostic or non diagnostic Autoimmun enteropathy Crohn’s disease Tropical sprue Isolated IgA deficiency Lymphangiectasia Giardiasis Nonspesific changes Milk or soy protein intolerance Intractable diarrhea AIDS Malnutrition Drug and radiation-induced lesions Contaminated small-bowel syndrome Graft-versus-host disease

31 Specialized studies Schilling test Serum/urine bile acid determination Endoscopic retrograde pancreatography Provocative pancreatic secretion testing

32 Causes of chronic diarrhea in neonates Cow’s or soy milk intolerance Glucose-galactose malabsorption Sucrase-isomaltase deficiency Congenital lactase deficiency Necrotizing enterocolitis Infections Cystic fibrosis Shwachman disease Abetalipoproteinemia Chylomicron retention disease Primary immunodeficiency Short bowel syndrome Intestinal lymphangiectasia Acrodermatitis enteropathica Microvillous inclusion disease Congenital chloride diarrhea Congenital bile salt malabsorption Congenital enterokinase deficiency

33 CELİAC DİSEASE

34 Celiac disease (CD), also called gluten- sensitive enteropathy, is a permanent intestinal intolerance to dietary wheat gliadin and related proteins that produces mucosal lesions in genetically susceptible individuals Celiac disease (CD), also called gluten- sensitive enteropathy, is a permanent intestinal intolerance to dietary wheat gliadin and related proteins that produces mucosal lesions in genetically susceptible individuals Celiac disease

35 Historical background Gallen, 250 AD, described celiac disease Gallen, 250 AD, described celiac disease Samuel Gee, 1888, first description of CD Samuel Gee, 1888, first description of CD Dicke, 1950, role of wheat and rye flour in the pathogenesis of CD Dicke, 1950, role of wheat and rye flour in the pathogenesis of CD Paulley, 1954, first biopsy (surgical) Paulley, 1954, first biopsy (surgical) Sakula ve Shiner, 1957, peroral intestinal biopsy Sakula ve Shiner, 1957, peroral intestinal biopsy ESPGHAN criteria, 1970, 1979, 1990, 2012 ESPGHAN criteria, 1970, 1979, 1990, 2012

36 Genetics of celiac disease Prevalence of CD among first-degree relatives of CD patients is approximately 10 % Prevalence of CD among first-degree relatives of CD patients is approximately 10 % 75 % of monozygotic twins have been found concordant with the disaese 75 % of monozygotic twins have been found concordant with the disaese Association of CD (95 % in CD, % in controls) with the HLA DQ α/β heterodimer encoded by the DQA1*0501 and the DQB1*0201 genes Association of CD (95 % in CD, % in controls) with the HLA DQ α/β heterodimer encoded by the DQA1*0501 and the DQB1*0201 genes

37 Epidemiology The reported prevalence of symptomatic CD is 1 in 1000 live births (1/250 – 1/4000) The reported prevalence of symptomatic CD is 1 in 1000 live births (1/250 – 1/4000) The prevalence of asymptomatic CD is 1/200 (1/100-1/300) The prevalence of asymptomatic CD is 1/200 (1/100-1/300)

38 Pathogenesis CD is an immunologically mediated small intestinal enteropathy. CD is an immunologically mediated small intestinal enteropathy. The mucosal lesions shows features suggesting both humoral- and cell-mediated immunologic overstimulation. The mucosal lesions shows features suggesting both humoral- and cell-mediated immunologic overstimulation. All the evidence available suggests a gluten- dependent activation of mucosal immunity in CD. All the evidence available suggests a gluten- dependent activation of mucosal immunity in CD.

39 Pathology Partial to total villous atrophy Partial to total villous atrophy Elongated crypts Elongated crypts Increased mitotic index in the crypts Increased mitotic index in the crypts Increased intraepitelial lymphocytes Increased intraepitelial lymphocytes Infiltrations of plasma cells and lymphocytes as well as mast cells, eosinophils, and basophils in the lamina propria Infiltrations of plasma cells and lymphocytes as well as mast cells, eosinophils, and basophils in the lamina propria

40 Clinical presentation Vomiting Vomiting Anorexia Anorexia Chronic diarrhea Chronic diarrhea Weigth loss Weigth loss Irritability Irritability Failure to thrive Failure to thrive Abdominal distention Abdominal distention Muscle wasting Muscle wasting

41 Clinical presentation Short stature Short stature Delayed puberty Delayed puberty Anemia Anemia Rickets-osteomalasia Rickets-osteomalasia Joint complaints Joint complaints Cryptogenetic hepatitis Cryptogenetic hepatitis Epilepsy Epilepsy

42 Cerrahpaşa experience; Age at the time of diagnosis Age (year) n% <2>4>

43 Symptoms Diarrhea: 85,5 % Diarrhea: 85,5 % Abdominal distention: 41 % Abdominal distention: 41 % Weigth loss: 27,7 % Weigth loss: 27,7 % Failure to thrive: 20,5 % Failure to thrive: 20,5 % Vomiting: 19,3 % Vomiting: 19,3 % Anorexia: 18,1 % Anorexia: 18,1 % Abdominal pain: 13,2 % Abdominal pain: 13,2 % Constipation: 3,6 % Constipation: 3,6 %

44 Physical findings Height < 3. p. : 60,7 % Height < 3. p. : 60,7 % Weight < 3. p. : 66,7 % Weight < 3. p. : 66,7 % Hepatomegaly: 38,1 % Hepatomegaly: 38,1 % Clubbing: 17,9 % Clubbing: 17,9 % Ascites: 8,3 % Ascites: 8,3 % Edema: 4,8 % Edema: 4,8 %

45 Laboratory findings Anemia: 50 % Anemia: 50 % Trombocytosis: 64.7 % Trombocytosis: 64.7 % Low Fe: 60 % Low Fe: 60 % Low ferritin: 78,4 % Low ferritin: 78,4 %

46 Associated diseases Dermatitis herpetiformis Dermatitis herpetiformis Down syndrome Down syndrome Autoimmune diseases Autoimmune diseases  Thyroid diseases  Addison’s disease  Sarcoidosis  Insulin-dependent diabetes mellitus  Autoimmune hepatitis  Alopecia…

47 Down syndrome-celiac disease The prevalence of celiac diseae in Down syndrome: % The prevalence of celiac diseae in Down syndrome: %

48 Insulin-dependent diabetes mellitus- celiac disease The prevalence of celiac diseae in insulin- dependent diabetes mellitus: 1,5 - 8 % The prevalence of celiac diseae in insulin- dependent diabetes mellitus: 1,5 - 8 %

49 Laboratory findings Anemia Anemia Trombocytosis Trombocytosis Folic acid deficiency Folic acid deficiency B 12 deficiency B 12 deficiency Hypoproteinemia Hypoproteinemia Hypertransaminasemia Hypertransaminasemia

50 Diagnosis Antigliadin antibodies Antigliadin antibodies Anti-endomysium antibodies Anti-endomysium antibodies Anti tissue transglutaminase antibodies Anti tissue transglutaminase antibodies Small intestinal biopsy Small intestinal biopsy Response to gluten-free diet Response to gluten-free diet

51 Diagnosis ESPGHAN criteria ESPGHAN criteria  Finding of villous atrophy with hyperplasia of the crypts and abnormal surface epithelium, while the patient eating adequate amounts of gluten.  A full clinical remission after witdrawal of gluten from the diet.  The finding of circulating antibodies to gliadin and endomysium at the time of diagnosis and their disappearence on a gluten-free diet, adds weight to the diagnosis.

52 Diagnosis ESPGHAN criteria ESPGHAN criteria  A control biopsy to verify the consequences on the mucosal architecture of the gluten-free diet is considered mandatory only in patients with equivocal clinical response to the diet and in patients asymptomatic at first presentation.

53 Diagnosis Gluten challenge is not considered mandatory, except under unusual circumstances. These include situations where there is doupt about the initial diagnosis, for exemple when no initial biopsy was done, or when the biopsy specimen was inadequate or not typical of CD. The diagnostic challenge may be necessary to exclude other causes that could be responsible for the flat mucosa. Gluten challenge is not considered mandatory, except under unusual circumstances. These include situations where there is doupt about the initial diagnosis, for exemple when no initial biopsy was done, or when the biopsy specimen was inadequate or not typical of CD. The diagnostic challenge may be necessary to exclude other causes that could be responsible for the flat mucosa.

54 Therapy Gluten-free diet; wheat, rye, barley and oats should be excluded Gluten-free diet; wheat, rye, barley and oats should be excluded Iron Iron Folic acid Folic acid Lactose-free diet Lactose-free diet

55 Therapy Gluten-free diet Gluten-free diet

56 Gluten-free bread

57 Celiac disease-cancer It has been demonstrated that the risk of developing small intestinal lymphoma is increased in patients taking a reduced-gluten or a normal diet, whereas for patients who have taken a strict gluten-free diet for 5 years or more the risk of developing malignancies over all sites is not increased when compared with the general population. It has been demonstrated that the risk of developing small intestinal lymphoma is increased in patients taking a reduced-gluten or a normal diet, whereas for patients who have taken a strict gluten-free diet for 5 years or more the risk of developing malignancies over all sites is not increased when compared with the general population.

58 Celiac disease All the present evidence strongly supports the view that restriction of gliadin should be complete and for life for all patients. All the present evidence strongly supports the view that restriction of gliadin should be complete and for life for all patients.


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