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UNUSUAL CAUSE OF ABDOMINAL DISTENSION
From Dr. S. Balasubramanian’s unit, Dr.S.Srinivas (Ped. GE Dept.)
K.K.C.T.H
Dr.Aparna
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CASE SCENARIO
6 year old male:
• Progressive abdominal distension x 3 years
• Diarrhea & vomiting x 15 days
• Normal appetite and activity and no other complaints
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Contd….
• Hospitalised for diarrhoea at 9/12
• Treatment for tuberculosis at 2 years for 6 months
• Normal Family history
• Normal development
• North Indian (Marwari from Rajasthan)
• Wheat based diet from early infancy
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On examination:
• Grade 2 clubbing, not anemic
• BMI-12.04 - Underweight
• Distended abdomen, visible bowel loops
• No organomegaly or free fluid
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Grade 2 clubbing
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Possibilities considered:
• IBD
• Coeliac disease
• Tropical sprue
• Tuberculous abdomen
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Investigations :• Normal counts, RFT,LFT
• Normal urine and stool routine (Occult blood –ve)
• ESR 80 (1 hr)
• Ig profile- IgG-2145,IgA-267,IgM-259,IgE-552
• Gastric juice for AFB negative
• Barium meal study revealed mild malabsorption pattern
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Contd….• Tissue transglutaminase Ig A >800
• Antiendomysial antibody +ve
• Upper GI scopy - mild scalloping of the duodenal mucosa
• HPE revealed total villous atrophy
COELIAC DISEASE
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On follow up after 2 weeks of GFD
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Coeliac disease
Review of literature
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HISTORY
• Greek physician in the first century AD- “The Coeliac Affection.” - Greek word “koelia” (abdomen): “If the stomach be irretentive of the food and if it pass through undigested and crude, and nothing ascends into the body, we call such persons coeliacs”.
• “a child who was fed upon a quart of the best Dutch mussels daily, throve wonderfully, but relapsed when the season for mussels was over; next season he could not be prevailed upon to take them.” Thus documenting improvement following the introduction of a gluten-free diet, and the relapse after reintroduction of gluten.
• Breakthrough- Dicke - noticed that during bread shortages in the Netherlands caused by World War II, children with celiac disease improved. He also saw that when Allied planes dropped bread into the Netherlands, they quickly deteriorated.
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Coeliac disease:• Autoimmune enteropathy caused by a permanent
intolerance to gluten.
• Gluten-main storage protein of wheat. The alcohol-soluble fraction (prolamin) of gluten, gliadin, is toxic in celiac disease, as are similar proteins in barley (hordein) and rye (secalin) .
• Associated with maldigestion and malabsorption of nutrients, vitamins, and minerals in the gastrointestinal tract.
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Celiac disease
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PATHOGENESIS
• Approximately 97%- genetic markers on chromosome 6p21- HLA-DQ2 and HLA-DQ 8
• The immune response involves CD4+ T cells in the lamina propria that recognize specific immunogenic gluten peptides, processed and presented by antigen-presenting cells.
• Gluten antigens are modified enzymatically by tissue transglutaminase (tTG).
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• tTG is the target of endomysial autoantibodies it deamidates glutamine residues in gliadin by converting them to glutamic acid residues.
• more antigenic than native gluten peptides and usually adhere to the binding grooves of HLA-DQ2 and HLA-DQ8 molecules.
• stimulate production of autoantibodies in the form of anti-tTG and antiendomysial antibodies
• CD4+ T lymphocytes infiltrate the lamina propria, T cells produce proinflammatory cytokines, and consequently destruction of the surface epithelium occurs. Flattening of the mucosa ensues.
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Gastrointestinal manifestations
• Diarrhea, steatorrhea, flatulence, abdominal distension and weight loss or FTT
• Diarrhea – episodic
• Nocturnal or early morning diarrhea is common.
• High fat content -light tan or grayish and greasy
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• Typical form presents with GI
symptoms, characteristically appear at
age 9-24 months.
• Behavioral changes common- irritability
,introverted attitude.
• Celiac crisis - explosive watery
diarrhea, marked abdominal distension,
dehydration, hypotension, and
lethargy, electrolyte abnormalities,
including severe hypokalemia.
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EXTRA INTESTINAL MANIFESTATIONS
• Hematopoetic- anaemia, haemorrhage
• Skeletal- osteopenia, pathological fractures
• Muscular- atrophy, tetany, weakness
• Nervous-peripheral neuropathy, ataxia
• Endocrine- 2o Hyperparathyroidism
• Others-edema, dermatitis herpetiformis
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Atypical presentation
• 70% atypical
• Infants and Toddlers- GI symptoms and FTT predominate
• Childhood- minor GI symptoms, inadequate rate of weight and height gain, and delayed puberty more common.
• Teenagers and young adults- anemia
• Adults and elderly- GI symptoms are more prevalent, although minor.
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• Associated autoimmune disorders -Rheumatoid arthritis , SLE, autoimmune liver disease, Addison’s disease, alopecia areata, Sjögren’s syndrome , cholangitis, primary biliary cirrhosis, autoimmune hepatitis, peripheral neuropathy, psoriasis, and cardiomyopathy
• Small bowel malignancies, adenocarcinoma, and enteropathy-associated T-cell lymphoma can occur if untreated
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Clinical presentation
Compared to West, celiac disease in India has later onset
of disease
India
• Mean age of onset of symptoms is 2.5 – 3 yrs
• Mean age at diagnosis is 6 - 8
West
• Mean age of onset of symptoms is 9 – 18 mos
• Diagnosed by 2 yrs of age
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Modified ESPGHAN criteria 1990
1. Abnormal jejunal biopsy while on gluten
2. Clinical improvement on GFD
If age < 2 yrs of age, gluten challenge is suggested as there may be other causes of villous atrophy like CMPI, viral diarrhea
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Which serological test?
Antibody testing in Indian children with celiac disease
SK Yachha, R Aggarwal, Srinivas S, A Srivastava, SK Somani, S Itha
Indian J Gastroenterol. 2006 May-Jun;25(3):132-5.
Sensitivity Specificity Accuracy
EMA 82.6% 94.7% 88.1%
IgA tTG 73.9% 100% 85.7%
IgA AGA 60.8% 60.8% 73.8%
IgG AGA 73.9% 26.3% 52.4%
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Modified Marsh criteria
Type 0 : Normal mucosa
Type I : Infiltrative - normal mucosa with increased IELs
Type II : Hyperplastic- in addition has crypt hperplasia
Type III : Destructive - diagnostic lesion of celiac disease
– A. partial VA
– B. sub-total VA
– C. total VA
Type IV : Hypoplastic
Rostami Am.J.Gastro. 1989; 94: 888
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Guideline for the Diagnosis and Treatment of Celiac Disease
in Children: NASPGHAN recommendations
• The diagnosis of CD is considered definitive when there
is complete symptom resolution after treatment with a
strict GFD in a previously symptomatic individual with
characteristic histologic changes on small intestinal biopsy
• A positive serological test that reverts to negative after
treatment with a strict GFD in such cases is further
supportive evidence for the diagnosis of CD
JPGN Jan 2005 40:1–19
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• INDIAN PEDIATRICS-VOLUME 42-NOVEMBER 17, 2005
Dr.Malathi Sathiyasekeran, Dr.S.Shivbalan
reported 3 cases seen in Chennai with characteristics features of CD who responded well to gluten free diet (GFD).
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Management• Strict lifelong adherence to a
gluten-free diet.
• Growth and development in children returns to normal with adherence to the gluten-free diet
• Antibody levels may revert to normal in 6 to 12 months
• Complete histological resolution may take up to 2 years .
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The National Institutes of Health Consensus Development Panel on celiac disease identified six elements essential to managing individuals affected by celiac disease:
C Consultation with a skilled dietitian;
E Education about celiac disease;
L Lifelong adherence to a gluten-free diet;
I Identification and treatment of nutritional deficiencies;
A Access to an advocacy group; and
C Continuous long-term follow-up.
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New and developing therapies for
celiac disease
• Emerging research: decrease gluten exposure, to modify intestinal permeability and to modulate immune activation.
• Enzymes designed to digest gluten and the use of inhibitors to decrease the migration of gluten peptides into the lamina propria.
• Other potential therapeutic maneuvers include -binding of gluten by polymers, use of tissue transglutaminase (TTG) inhibitors and DQ2 or DQ8 blockers, or modulation of cytokine production.
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Gluten-free grains and starches
• Amaranth • Arrowroot• Buckwheat • Corn• Flax • Flours made from • nutsbeans and seeds• Millet • Montina™• Potato starch• Potato flour • Quinoa• Rice• rice bran • Sago• Sorghum • Soy (soya)• Tapioca • Teff
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Take home message
• Reportedly high prevalence of 1 in 310 in Punjab school children.
• Good history, high index of suspicion will help in early diagnosis and in management of this disease
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THANK YOU