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Presentation on theme: "MALABSORPTİON SYNDROME"— Presentation transcript:

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.”

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

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

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

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

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

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

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

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

15 Gastrointestinal diseases associated with maldigestion and malabsorption
Intraluminal digestion Stomach Pernicious anemia

16 Gastrointestinal diseases associated with maldigestion and malabsorption
Intraluminal digestion Pankreas Cystic 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 Glucoamylase

19 Gastrointestinal diseases associated with maldigestion and malabsorption
Enterocyte absorption Glucose-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 Vomiting Rectal bleeding Anorexia
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 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


34 Celiac disease 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

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

36 Genetics of celiac disease
Prevalence of CD among first-degree relatives of CD patients is approximately 10 % 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

37 Epidemiology 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)

38 Pathogenesis CD is an immunologically mediated small intestinal enteropathy. 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.

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

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

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

42 Cerrahpaşa experience; Age at the time of diagnosis
Age (year) n % <2 >4 >10 24 48 12 28.6 57.1 14.3

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

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

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

46 Associated diseases Dermatitis herpetiformis Down syndrome
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: %

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

49 Laboratory findings Anemia Trombocytosis Folic acid deficiency
B12 deficiency Hypoproteinemia Hypertransaminasemia

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

51 Diagnosis 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
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.

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

55 Therapy 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.

58 Celiac disease 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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