Currently 4-year-old girl, referred to our department from regional hospital because of microcytic hypochromic anaemia – found by chance in May 2020. Laboratory test were performed before elective stomatology intervention under general anaesthesia due to the caries.
Historically girl failed in her percentile curves from 90th to 25th percentile for height and from 97th to 25th percentile for weight between 18 months and current admission. There was no increase in head circumference during this period. Parents reported episodes of abdominal pain and diarrhoea during the last 6 months before the first examination.
When hospitalized in a regional hospital (July 2020), transfusion was indicated (CBC HGB 51, HCT 0,203, MCV 54). Additional laboratory tests showed increased titres of both tissue transglutaminase antibodies (TGA) IgA (234 IU/ml) and Anti-Saccharomyces cerevisiae antibodies (ASCA) IgA (351 U/ml).
There was a slight delay in psychomotor development, but due to the Covid situation further investigations were not performed. Autistic spectrum disorder was confirmed later in our hospital and MRI of CNS showing no pathology.
At the time of initial examination ESPGHAN criteria for no-biopsy diagnosis of Celiac disease was fulfilled.
Upon admission to our hospital in the beginning of August, she was in good shape, eutrophic, without any signs of anaemia, which was already treated in regional hospital. Her body weight was 16,3 kg (12th percentile), and body length 103 cm (25th percentile).
Laboratory tests of blood and stool led us to decision to perform upper and lower endoscopies, to confirm celiac disease and exclude IBD.
Our results: ESR 25/45 mm, TGA IgA: >4950,0 CU, ASCA IgA: 47,9 U/ml, ASCA IgG: 10,5 U/ml
Faecal occult blood test: 253 ng/ml, 51 ug/g, Faecal calprotectin (fCP): 249,5 ug/g
HLA genotyping: HLA-DQ2, HLA-DQ8: positive (Heterodimers DQ2.2 a DQ2.5 positive) GENOTYPE: DQA1*02, DQA1*05, DQB1*02
TPMT genotyping – intermediate metabolizer
Upper endoscopy was macroscopically normal. Histological examination found increased IELs (more than 103 IEL/100 enterocytes), subtotal villous atrophy and crypt hyperplasia, equivalent to Marsh 3 B – C histological changes
Lower endoscopy showed inflammatory changes of rectum, sigmoid, transverse and ascending colon (with fibrin, erosions, and fragile mucosa). Histological examination showed chronic inflammation, without typical epithelioid microgranulomas.
Gluten-free diet and systemic corticosteroid treatment was introduced after endoscopies.
Concomitant therapy with Iron supplementation, 5-ASA and Azathioprine was also initiated.
At last follow-up visit in March 2021 she was well nourished (weight 21 kg, height 108 cm) and asymptomatic. Corticosteroid treatment was stopped.
Serologic tests for celiac disease showed significant improvement,
Anti-endomysium antibodies (EMA) IgA: negative, EMA IgG: negative, TGA IgA: 137,2, TGA IgG: 49,9. CBC showed thrombocytosis (PLT 577 109/l) and hypochromic anaemia (HGB 92, HCT 0,33, MCV 58, Fe 3,1 umol/l)
She has normal stools and fCP was 83 ug/g.
This case presents a 4 years old girl with an overlap disorder – celiac disease and IBD. Both autoimmune disorders have partially genetic background and the same target organ- the GUT, After the introduction of gluten-free diet and immunosuppressive treatment she gained weight and had no symptoms. Results of VEOIBD genetic panel are expected.