MALABSORPTİON SYNDROME
Prof. Dr. Tufan KUTLU
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.”
Characteres of stools in childhood
0-6 months
Breast milk
1-12/day
yellow to braun
pH: 5
Formula
1-7/day
yellow to braun
pH: 7
6 months-1 year
2-3/day
braun
>1 year
as adult
5-10g/kg/day
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
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Malabsorption syndrome
Chronic diarrhea
 Protuberant abdomen
 Vomiting
 Weigth loss
 Short stature
 Anorexia..
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Digestion of carbohydrates
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Carbohydrates
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Enzymes
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Starch 50 %
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Salivary amylase
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Sucrose 20-40 %
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Pancreatic amylase
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Lactose 20-40 %
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Disaccharidase
Monosaccharides
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Glycose
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Galactose
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Fructose
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Sucrase-isomaltase
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Glucoamylase
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Lactase
Carbohydrate malabsorption
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Sucrase-izomaltase deficiency
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Primary lactase deficiency
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Late onset lactase deficiency
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Glycose-galactose malabsorption
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Secondary disaccharidase deficiency
Digestion of proteins
 Gastric
asid
 Enterokinase
 Pancreatic
proteases
Protein malabsorption
 Kongenital
enterokinase deficiency
 Pancreatic enzyme deficiency
 Aminoacid transport defects
Digestion of lipids
 Gastric
lipase
 Pancreatic
 Bile
lipase
acids
 Absorption
Steatorrhea
 Pancreatic
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deficiency
Congenital
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Cystic fibrosis
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Shwachman-Diamond syndrome
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Johanson-Blizzard syndrome
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Pearson’s syndrome
Acquired
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Chronic pancreatitis
Steatorrhea
 Bile
acid deficiency
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Diminution of synthesis in the liver
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Bile duct atresia
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İncrease of bacterial deconjugation
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Diminution of ileal reabsorption (Crohn’s
disease, ileal resection, short gut)
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Drugs (cholestyramine)
Steatorrhea
 Abetalipoproteinemia
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Retinitis pigmentosa
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Neurologic symptoms
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Achantocytosis
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Cholesterol very low
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Treatment: no fat, MCT, vitamine ADEK
supplementation
 Hypobetalipoproteinemia
Steatorrhea
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Intestinal lymphangiectasia
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Hypoalbuminemia
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Lymphopenia
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Edema
Mucosal absorption disorders
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Celiac disease
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Short gut
Gastrointestinal diseases associated with maldigestion
and malabsorption
Intraluminal digestion
Stomach
Pernicious anemia
Gastrointestinal diseases associated with
maldigestion and malabsorption
Intraluminal digestion
Pankreas
Cystic fibrosis
Shwachman-Diamond syndrome
Acute/chronic pancreatitis
Tyripsinogen deficiency
Lipase deficiency
Amylase deficiency
Gastrointestinal diseases associated with
maldigestion and malabsorption
Intraluminal digestion
Liver
İntestine
Cholestasis syndromes
Enterokinase deficiency
Short bowel syndrome
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
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
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
Presenting symptoms
Chronic diarrhea
 Rectal bleeding
 Meteorismus
 Abdominal pain
 Weigth loss
 Failure to thrive
 Constipation
 Tenesmus

Vomiting
 Anorexia
 Pallor
 Weakness
 Fever
 Geophagia
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Physical findings
Weigth loss
 Short stature
 Protuberant abdomen
 Ascites
 Edema
 Hepatomegaly
 Splenomegaly

Clubbing
 Pallor
 Gingival hipertrophy
 Aphthous mouth
ulcers
 Arthritis
 Eritema nodosum
 Uveitis, episcleritis

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

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

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

Antibodies
Anti-gliadin ab
 Anti-endomisium ab
 Anti-transglutaminase ab
 Autoantibody
 p-ANCA, ASCA

Sweat test indications
Failure to thrive
 Chronic diarrhea
 Rectal prolapsus
 Neonatal cholestasis
 Cirrhosis
 Pancreatitis
 Recurrent pulmonary infections
 Nasal polyps
 Meconium ileus
 Positive family history

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
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Causes of villous atrophy in infants and children
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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
Relative value of a small-bowel biopsy
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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
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Nonspesific changes
Milk or soy protein intolerance
Intractable diarrhea
AIDS
Malnutrition
Drug and radiation-induced lesions
Contaminated small-bowel syndrome
Graft-versus-host disease
Specialized studies
Schilling test
 Serum/urine bile acid determination
 Endoscopic retrograde pancreatography
 Provocative pancreatic secretion testing
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Causes of chronic diarrhea in neonates
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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
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Primary immunodeficiency
Short bowel syndrome
Intestinal lymphangiectasia
Acrodermatitis enteropathica
Microvillous inclusion disease
Congenital chloride diarrhea
Congenital bile salt malabsorption
Congenital enterokinase
deficiency
CELİAC DİSEASE
Celiac disease

Celiac disease (CD), also called glutensensitive enteropathy, is a permanent
intestinal intolerance to dietary wheat gliadin
and related proteins that produces mucosal
lesions in genetically susceptible individuals
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

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, 20-30 % in
controls) with the HLA DQ α/β heterodimer
encoded by the DQA1*0501 and the DQB1*0201
genes

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)

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 glutendependent activation of mucosal immunity in CD.
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Pathology
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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
Clinical presentation
Vomiting
 Anorexia
 Chronic diarrhea
 Weigth loss
 Irritability
 Failure to thrive
 Abdominal distention
 Muscle wasting

Clinical presentation
Short stature
 Delayed puberty
 Anemia
 Rickets-osteomalasia
 Joint complaints
 Cryptogenetic hepatitis
 Epilepsy

Cerrahpaşa experience;
Age at the time of diagnosis
Age (year)
n
%
<2
>4
>10
24
48
12
28.6
57.1
14.3
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 %

Physical findings
Height < 3. p. : 60,7 %
 Weight < 3. p. : 66,7 %
 Hepatomegaly: 38,1 %
 Clubbing: 17,9 %
 Ascites: 8,3 %
 Edema: 4,8 %
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Laboratory findings
Anemia: 50 %
 Trombocytosis: 64.7 %
 Low Fe: 60 %
 Low ferritin: 78,4 %
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Associated diseases
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Dermatitis herpetiformis
Down syndrome
Autoimmune diseases
 Thyroid diseases
 Addison’s disease
 Sarcoidosis
 Insulin-dependent diabetes
mellitus
 Autoimmune hepatitis
 Alopecia…
Down syndrome-celiac disease
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The prevalence of celiac diseae in Down
syndrome: 1 - 18 %
Insulin-dependent diabetes mellitusceliac disease
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The prevalence of celiac diseae in insulindependent diabetes mellitus: 1,5 - 8 %
Laboratory findings
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Anemia
Trombocytosis
Folic acid deficiency
B12 deficiency
Hypoproteinemia
Hypertransaminasemia
Diagnosis
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Antigliadin antibodies
Anti-endomysium antibodies
Anti tissue transglutaminase
antibodies
Small intestinal biopsy
Response to gluten-free diet
Diagnosis
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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.
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.
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.
Therapy
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Gluten-free diet; wheat, rye,
barley and oats should be
excluded
Iron
Folic acid
Lactose-free diet
Therapy

Gluten-free diet
Gluten-free bread
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.
Celiac disease

All the present evidence strongly supports the
view that restriction of gliadin should be
complete and for life for all patients.