Celiac disease in children Diagnosis and management

1. Celiac Disease
Prof. Imran Iqbal
Prof of Paediatrics (2003-2018)
Prof of Pediatrics Emeritus, CHICH
Multan, Pakistan

2. In the name of Our Creator Allah,
the most Gracious,
the most Merciful

3. It contains estimated 200 Billion Stars, the sun lies roughly 27,000 light-years
from the centre of the galaxy. And there are estimated minimum
100 Billion Galaxies in the Universe.

4. Case Scenario
• A 3.5 years old child is admitted in MER with
H/O loose motions, generalized body
swelling, lethargy and poor feeding for last
two weeks. There is also H/O diarrhea off
and on for last two years. Child is taking
animal milk and some solid foods. Patient is
vaccinated according to EPI schedule
• What is your differential diagnosis ?

6. Investigations
• Hb 8.4, TLC 9.6, PLT 96000
• S. ALBUMIN 2.6,
• Na 129, K 3.0,
• RBS 47mg/dl
• Ca 8.4, PO4 2.3, Mg 1.4,
• Creatinine 0.5,
• ALT 275, ALP 225 U/L, PO4 2.3

7. Diagnosis
• Severe Acute Malnutrition
• Kwashiorkor
• Malabsorption
• ? cause

8. Differential Diagnosis
• Celiac Disease
• Post-enteritis malabsorption
• Giardiasis
• Tropical Enteropathy (Tropical Sprue)
• Lactose intolerence
• Cystic fibrosis
• AIDS
• Protein losing enteropathy
• Eosinophilic Gastroenteritis

9. Celiac disease
Celiac (Greek) = Abdominal

10. Celiac Disease
• Gluten enteropathy
• Autoimmune disorder
• Genetically predisposed
• 1 in 100 persons
• Villus atrophy in small intestine

11. Frequency of Celiac Disease in Other Siblings
oMonozygotic twin (∼70%)
oHLA-matched sibling (∼30%–40%)
oFirst-degree relative (∼10%)

12. Associated Diseases
• Autoimmune thyroiditis (∼15%)
• Type I diabetes (≥ 8%)
• Selective IgA deficiency (1.7%–7.7%)
• Down Syndrome (5%–12%)
• Williams Syndrome (8.2%)
• Turner Syndrome (4.1%–8.1%)

14. Typical Celiac Disease
• Age 2 to 10 yrs
• Recurrent / chronic Diarrhea
• Malabsorption
• Abdominal distension
• Anemia
• Failure to thrive
• Poor weight gain
• Short stature

15. Atypical Celiac Disease
• Age more than 10 yrs
• Resistant anemia
• Short stature
• Delayed Puberty
• Osteopenia / Osteoporosis
• Aphthous stomatitis
• Dental Enamel Hypoplasia
• Dematitis Herpetiformis
• Subfertility in women
• Peripheral Neuropathy

16. The Celiac Iceberg
16
Symptomatic
Celiac Disease
Silent Celiac
Disease
Latent Celiac Disease
Genetic susceptibility: - DQ2,
DQ8
Positive serology
Manifest
mucosal lesion
Normal
Mucosa

17. Silent Celiac Disease
• No or minimal symptoms,
• “ damaged” mucosa
• positive serology
• Identified by screening asymptomatic
individuals from groups at risk :
First degree relatives
Down syndrome
Type 1 diabetes

18. Latent Celiac Disease
• No or minimal symptoms,
• “ normal” mucosa
• normal / abnormal serology
• May develop clinical disease or abnormal
serology later on:

20. Diagnosis
• Symptoms
• Signs on Physical Examination
• Serological Antibody tests on Gluten diet
– Anti-transglutaminase Ig A - 10 X ULN
• HLA detection – DQ2 ,DQ8
• Small Bowel Biopsy – Villus atrophy
• Clinical Response to Gluten free diet

21. Tissue Transglutaminase
• Enzyme in Intestinal Mucosa
• Catalyzes metobolism of Gluten peptides
• Cross linkage of gliadin peptide to tissue
transglutaminase enzyme during these
reactions results in formation of new
epitopes (antigens)
• Stimulation of immune system by these
antigens results in formation of Anti-tissue
transglutaminase antibodies

22. Anti-transglutaminase - Ig A
• Most sensitive and specific test
• Child should be on Gluten containing diet
• Antibody titer correlates with Villus atrophy
• > 10 X ULN is taken as positive evidence
• Small bowel Histology needed if strong
clinical suspicion and Values < 10 X ULN
• Antibody titer decreases to normal after
strict Gluten free diet

23. HLA detection – DQ2 ,DQ8
• Indicates genetic predisposition
• Broadly distributed in population
• Seen in 95% of Celiac Disease patients
• Only 10 % of HLA DQ2 ,DQ8 develop Celiac
Disease

24. ENDOSCOPIC FINDINGS
(DUODENAL BULB)

25. 25
Histological Features
Marsh criteria
Normal 0 Infiltrative 1 Hyperplastic 2
Partial atrophy 3a Subtotal atrophy 3b Total atrophy 3c
Horvath K. Recent Advances in Pediatrics, 2002.

26. Villus atrophy – Flat mucosa
• Protein Energy Malnutrition
• Celiac Disease
• Post-enteritis malabsorption
• Giardiasis
• Tropical Enteropathy (Tropical Sprue)
• Lactose intolerence
• Cow Milk Protein Allergy
• AIDS

27. Diagnosis of Celiac Disease
• Symptoms and signs
• – Anti-tissue-Transglutaminase
Ig A - 10 X ULN
• Clinical Response to Gluten free diet

28. Management
• Gluten free diet (avoid Wheat, Barley)
• Vitamin A
• Vitamin D
• Micronutrients
• Iron therapy (Oral / IV)

31. Gluten free Foods
• Cereals - Rice, Corn, Millet
• Meat
• Egg
• Milk
• Lentils
• Fruits
• Vegetables

33. Complications
• Malnutrition
• Severe Acute Malnutrition
• Micronutrient deficiencies
• Celiac crisis
• Non-Hodgkin Lymphoma

34. Celiac crisis
Acute onset or rapid progression of
gastrointestinal symptoms
attributable to
Celiac disease
requiring hospitalization
and/or parenteral nutrition

35. Complications in Celiac crisis
• Severe dehydration
• Neurologic dysfunction
• Renal dysfunction: creatinine >2.0 mg/d
• Metabolic acidosis: pH <7.35
• Hypoproteinemia (Albumin < 3.0 g/dL)
• Electrolyte abnormalities:
• Hyponatremia,
• Hypocalcemia,
• Hypokalemia
• Hypomagnesemia

36. Management of Celiac crisis
• Hypoglycemia - 10% D/W 5ml/ kg
• Dehydration - Ringer Lactate + KCL 4ml/100ml
• Ca-gluconate in infusion 1 – 2 ml/kg
• MgSO4 (IV/IM: 25-50 mg/kg q6hr for 1 day
• Antibiotics
• Blood packed cells transfusion if needed
• Salt free albumin or FFP (10ml/kg)
• Steroids: Hydrocortisone 5mg/kg/dose 6 hourly
• Micronutrients: Vit-K (5mg ), Vit-A (2 lac IU), Vit-D (2
lac IU), Folic Acid (5mg OD) and Zinc (20mg OD)
• Gluten free diet

37. Medical Ethics