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Suspicion and Initial Diagnosis
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Suspicion and Initial Diagnosis
Suspicion is based on clinical symptoms or membership in risk groups. Important: All tests should be performed while the patient is on a gluten-containing diet.
When to suspect?
Gastrointestinal symptoms
- chronic diarrhea
- Recurrent abdominal pain
- Abdominal distension, gas
- Vomiting, nausea
- Chronic constipation
- Failure to thrive / Weight loss
Extraintestinal Symptoms
- Unresponsive iron deficiency anemia
- Low size
- Pubertal delay
- Dermatitis herpetiformis
- Recurrent oral thrush
- Irritability, mood swings
- Chronic fatigue
- Elevation of transaminases
Initial Studies
| Laboratory Test | Action/Performance |
|---|---|
| 1. Anti-tissue transglutaminase IgA antibodies (tTG-IgA) | It is the most sensitive and specific serological test. |
| 2. Total serum IgA | Essential to rule out a selective IgA deficiency (2-3% of celiac patients), which would give a false negative in tTG-IgA. |
| In case of IgA deficiency... | Order IgG-based tests: Anti-deaminated gliadin peptides IgG (DGP-IgG) o tTG-IgG. |
What do I do with the results?
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tTG-IgA > 10 times the Upper Limit of Normality (ULN): It can be considered a diagnosis without biopsy (according to ESPGHAN 2020 guidelines). It must be confirmed with anti-endomysial antibodies (EMA-IgA) in a second blood sample. Action: Refer to Pediatric Gastroenterology for confirmation and follow-up.
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tTG-IgA positive but < 10 times ULN: High suspicion. The diagnosis requires histological confirmation. Action: Refer to Pediatric Gastroenterology for evaluation of endoscopy with duodenal biopsy.
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tTG-IgA negative (with normal total IgA): Illness is unlikely. If the clinical suspicion is very high, consider referring to a specialist or requesting HLA.
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Referral and Specialized Management
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Referral and Specialized Management
Referral Criteria to Pediatric Gastroenterology
- Positive serology (any value) to confirm diagnosis and plan management.
- High clinical suspicion with negative or doubtful serology.
- Patients from risk groups with inconclusive results.
- Selective IgA deficiency with suspected celiac disease.
- Need for endoscopy with duodenal biopsy.
- Management of complex cases or cases with poor response to initial treatment.
Management by Gastroenterology
| Procedure | Description |
|---|---|
| Diagnostic confirmation | Serology review. If appropriate, Upper Digestive Endoscopy is performed with duodenal biopsies taken (minimum 4 samples from the distal duodenum and 1-2 from the bulb). |
| Genetic Study (HLA-DQ2/DQ8) | It is not a routine diagnostic test. Useful in cases of negative serology and high suspicion, or in family members to stratify risk. A negative result practically excludes the disease. |
| Main Treatment | Establishment of a Strict, lifelong Gluten-Free Diet (GFD). This is the only treatment. There are no first-line medications. |
| Referral to Nutritionist/Dietitian | Fundamental for patient and family education about GFD, avoiding nutritional deficiencies. |
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Monitoring and Lack of Improvement
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Monitoring and Lack of Improvement
Post-Diagnosis Follow-up Plan
Follow-up is carried out jointly between a primary care pediatrician and a gastroenterologist.
- At 3-6 months: Clinical evaluation (symptoms, growth), adherence to diet. Repeat serology (tTG-IgA) which should show a clear decrease.
- Annually: Clinical and serological monitoring. Serology should be negative in 12-24 months. Analytical studies should be requested to rule out deficits (blood count, ferritin, folate, Vit B12, Vit D) and comorbidities (thyroid function).
What to do if there is no improvement?
It is defined as the persistence of symptoms, signs or analytical alterations after 6-12 months of GFD.
Steps to follow in the event of a lack of response:
- Re-evaluate adherence to the DSG: It is the most common cause (90% of cases). It involves a thorough review with an expert dietitian. Look for inadvertent transgressions (cross contamination, mislabeled products).
- Rule out other pathologies: Secondary lactose intolerance (common at onset), bacterial overgrowth, pancreatic insufficiency, food allergies, inflammatory bowel disease.
- Refer back to Gastroenterology: For complete re-evaluation. Repeat endoscopy with biopsies may be required to confirm persistence of villous atrophy.
Therapeutic Options (Refractory Celiac Disease)
Warning: Refractory Celiac Disease is extremely rare in children. Its management is exclusively hospital and by a specialist. Medications are used to control severe inflammation that does not respond to diet.
| Medicine | Presentation and Dosage (Guidance) |
|---|---|
| Budesonide (Topical corticosteroid) | 3 mg capsules. Usual dose: 6-9 mg/day, with a descending schedule. It acts locally in the intestine with fewer systemic effects. |
| Prednisone (Systemic corticosteroid) | Tablets. Initial dose 1-2 mg/kg/day, with a descending schedule. It is reserved for more severe cases. |
| Immunosuppressants (Azathioprine, Thioguanine) | Very highly specialized management. Considered in cases of RCD type II (very rare in pediatrics). |
Recommendations for Parents
Recommendations for Parents
WHAT TO DO ✅
- Read ALL tags: Look for the mention "gluten-free" or the barred spike symbol.
- Prevent cross contamination: Use separate toasters, cutting boards and utensils. Store gluten-free products on upper shelves.
- Base the diet on naturally gluten-free foods: Fruits, vegetables, legumes, meats, fish, eggs.
- Communicate at school and at social events: Inform teachers, caregivers and other parents to ensure a safe environment.
- Join celiac associations: They provide reliable information, recipes and support.
- Educate the child: As he grows, he must understand his condition and learn to manage his diet autonomously.
WHAT NOT TO DO ❌
- Do not start a gluten-free diet before diagnosis: Prevents a correct diagnosis.
- Don't trust "low gluten" or "buckwheat": Only certified "gluten-free" products are safe.
- Do not share fryers or oil: Gluten can contaminate the oil.
- Do not relax the diet on special occasions: Small amounts of gluten are harmful and perpetuate intestinal damage.
- Do not use medications to "digest gluten": They do not exist and are not effective.
- Don't feel guilty: Celiac disease is an autoimmune condition, it is no one's fault.
Quick Assessment
Quick Assessment
Literature
Literature
- Husby S, et al. European Society for Pediatric Gastroenterology, Hepatology, and Nutrition guidelines for diagnosing coeliac disease 2020. J Pediatr Gastroenterol Nutr. 2020;70(1):141-156.
- Working group of the Protocol for the early diagnosis of celiac disease. Protocol for the early diagnosis of celiac disease. Ministry of Health, Social Services and Equality. 2018.
- Lionetti E, et al. The role of gluten in celiac disease. J Transl Autoimmun. 2023;6:100195.
- Association of Celiacs and Gluten Sensitives. Guides and resources for patients and professionals.