A case report of a patient with a late relapse

We present a patient who was diagnosed with coeliac disease at the age of 21 months. At that time, when he was seen for the first time at our hospital, the child was failing to thrive and had 3 months history of diarrhoea and vomiting. At the examination he was hypotrophic, oedematous, anaemic and with distended abdomen. Coeliac disease was suspected and additional workup was done: coeliac-specific serology and small bowel biopsy. Serology returned positive (anti-endomysial antibodies (EMA) were positive), biopsy showed Marsh 3C lesion (total villous atrophy and increased intraepithelial lymphocytes (IEL) > 60). Therefore, the diagnosis of coeliac disease was confirmed and strict gluten-free diet was recommended and started. Gradually symptoms disappeared, and the child started to thrive well. He was followed-up regularly till the age of 5 years old, when the family stopped attending regular paediatric gastroenterologist appointments.

He was again seen at the age of 8 years, when we were told that at the age of 5 years the parents made the decision to introduce gluten in the diet of our patient, without consultation with his paediatric gastroenterologist. As our patient didn’t have any symptoms after starting gluten containing diet, the parents didn’t find it necessary to make gastroenterologist appointments. However, in agreement with the patient’s parents, coeliac serology was repeated and it was negative. The parents decided to continue gluten containing diet, but with regular follow-up at our outpatient clinic.

At 15 years of age, the patient was still consuming gluten regularly, didn’t have any symptoms, but it was agreed to do a control endoscopy and coeliac-specific serology. Coeliac-specific serology was negative, and small bowel biopsy showed normal villous and crypt ratio, with 30/100 IEL, which was described as infiltrative lesion.

After 6 months of follow up, an endoscopy and serology were repeated. This time EMA was borderline positive, and tissue transglutaminase antibodies (anti-tTG) were at the upper limit of normal. Endoscopy was neat, and small bowel biopsy was described as normal, this time without an increase in IEL. The patient was still consuming gluten regularly.

Finally, at 17 years of age, while still followed-up regularly, our patient had bodyweight of 65 kg (z score -0.54), body height of 171.5 cm (z score -1.29) and had clearly positive anti-tTG antibodies and positive EMA antibodies, and a destructive lesion of small bowel biopsies, with shortened villi, and IEL > 40/100 (Marsh 3c). The diagnosis of coeliac disease was confirmed and gluten-free diet was re-initiated.

In this case, we presented a patient with a clear diagnosis of coeliac disease at the age of 21 months of age who was adherent to gluten-free diet for 3 years. At the age of 5 gluten-containing diet was self-initiated. The patient stayed asymptomatic with negative coeliac serology and normal small biopsy findings for almost 12 years after introducing gluten in his diet. However, by regular follow-up we established a significant intestinal lesion with an increase in coeliac-specific antibodies. In other words, intestinal lesion reoccurred after 12 years of gluten-containing diet, and due to lack of symptoms, without regular follow-up, this patient wouldn’t be diagnosed “again”.

We would like to point out that late relapse of coeliac disease can occur even after more than 10 years of gluten challenge. If a child diagnosed with coeliac disease and treated with gluten-free diet for some time starts to eat gluten, he/she has to be followed carefully (even if after two years of gluten challenge both serology and biopsy are normal) not to miss a late relapse.