Platform was developed within the CD SKILLS project to share the problems concerning celiac disease with the members of the network who will provide counselling, guidance and exchange of experience. You are kindly invited to provide data of challenging cases of celiac disease which will be discussed.

Every month an interesting and instructional case concerning celiac disease will be presented as a case of a month. Members of partnership will share and discuss their experience especialy on difficult/unclear cases and ask for the opinion of other members and wider celiac disease community.

Please find an example of a patient story, which has been discussed among the network specialists, below:

Female patient, 7 years old, was referred to paediatric gastroenterologist due to positive point-of-care (POC) test for coeliac disease, which was taken when she enrolled in school, as a part of public health project in Croatia.

She is an only child in the family, with positive family history for irritable bowel syndrome (IBS), but negative for other gastrointestinal diseases, including coeliac disease. She was born from a normal pregnancy, breastfed up to 3 years and progressed well. Due to recurrent urinary tract infections, she is under treatment by paediatric nephrologist, and under treatment by an allergologist due to multiple inhalation and nutritional allergies.

After positive POC test for coeliac disease, her primary paediatrician ordered blood tests, including complete blood count, inflammation markers, liver enzymes, total immunoglobulins, antibodies to tissue transglutaminase (anti-tTG IgA) and deamidated gliadin peptide antibodies (DGP IgG). The results returned positive with anti-tTG levels of 40.8 (ULN is 7), with normal levels of immunoglobulins and normal levels of DGP. Other blood results were normal, and patient was referred to paediatric gastroenterologist.

At first visit, our patient was a well appearing child, with no complaints. Her appetite was normal, and she had regular, sometimes softer stools. Sometimes, after a larger meal, she complained of an abdominal pain. Due to nutritional allergies, she does not eat food with cow milk proteins (including dairy products), eggs, nuts, citrus fruits, seafood, peanuts, strawberries and honey.

Given the positive findings of tTG, we performed a duodenal biopsy. Until then, no restrictions regarding gluten were suggested. At histology, the sample was correct in orientation, with maintained architecture and ratio of villi and crypts. In lamina propria there were dense mononuclear cells, especially plasma cells and in some samples dense eosinophils (up to 50 eo/VVP), and in some samples increased number IEL (> 30 IEL / 100 enterocytes). Histologic finding suggested lymphocytic enteritis (Marsh stage I), but the pathologist concluded that dense accumulations of plasma cells and eosinophils may indicated an aetiology other than celiac disease.

The patient was advised to continue gluten containing diet and further workup was proposed. At her next check-up after 4 months, there were no new complaints. The patient was in a good general condition, gained on body weight, with normal stools. Parasitic infection was excluded. Genetic markers related to coeliac disease came back positive (HLA DQ2 positive in cis position), EMA was positive (2+) and tTG antibodies were 29 U/ml (ULN is 10).

The patient was advised to continue diet with gluten and to repeat the findings of complete blood count, anti-tTG and EMA serology in 6 months and report the findings.

Questions, which have been risen:

Should we diagnose coeliac disease based on Marsh I histology and weakly positive serology?

Alternatively, should we leave our patient on a diet without restrictions concerning gluten and repeat serology and duodenal biopsy? If the latter, after what time?

The celiac disease healt care propfessionals community is invited to participate in the discussion (https://cdskills.eu/).