Case report – Medical University Graz, Austria
Patient’s history:
A three years 10 months old girl was referred from the General Paediatrician with a history of chronic abdominal pain, intermittent vomiting and constipation.
Her mother is in treatment for Hashimoto thyroiditis, otherwise both her family history and her own previous history were uneventful (= no history for further autoimmune disorders nor any chronic hepatic, respiratory nor neurological disease),
When presenting in our outpatient department, the girl was clinically well and findings on physical examination were normal and she merely seemed a little pale; weight and height were appropriate for age (50th pc.).
Results of comprehensive Lab exams were all normal (incl. thyroid function tests etc.) with the following exceptions:
1) 2 x slightly decreased Hct values (please see one of the original exams below):
Leukozyten 5.56 10^9/L (5.5-14.0)
Erythrozyten 4.43 10^12/L (3.90-5.10)
Hämoglobin 11.6 g/dL (11.4-14.0)
Hämatokrit 34.0/- % (35.0-45.0)
2) 3 x decreased values of total IgA, within 8 weeks (please see one of the original exams below):
Serumproteine: Spez.Diagnostik
IgA 0.10/– g/L (0.27-1.95)
– with tTG values therefore inconclusive.
3)Values of deamidated IgG-Gliadin-Antibodies kept increasing from normal to 3 x the upper limit of our reference values (please see two of the original exams below):
a) Serumproteine:Spez.Diagnostik
IgA 0.12/– g/L (0.27-1.95)
Gastroenterologie:Einzeluntersuchungen
Gewebstransglutaminase-AK, IgA <2 U/mL (0-16)
Gliadin-AK, IgA <5.5 U/mL -< 5.5
Gliadin-AK, IgG <10 U/mL -< 10
b) Serumproteine:Spez.Diagnostik
IgA 0.10/– g/L (0.27-1.95)
Gastroenterologie:Einzeluntersuchungen
Gewebstransglutaminase-AK, IgA <2 U/mL (0-16)
Gliadin-AK, IgA <5.5 U/mL (-< 5.5)
Gliadin-AK, IgG 33/+ U/mL (-< 10)
4) HLA typing revealed HLA-DQ2-Positivity
5) Upon
a) age appropriate gluten intake (based on the analysis of a 3-days’ food intake protocol by dietician)
b) elevated DGP values
Esophagogastroduodenoscopy was performed and 4 biopsies from the descending duodenum as well as 4 biopsies from the duodenal bulb taken.
6) However, histopathologic diagnosis was corresponding with MARSH I (please see copy of original report below):
DIAGNOSE:
28 (I): Lymphozytäre Enteritis (überwiegend zwischen 25 und 40 intraepitheliale Lymphozyten auf 100 Epithelzellen) ohne Schleimhautarchitekturstörung).
29 (II): Lymphozytäre Enteritis (überwiegend zwischen 25 und 40 intraepitheliale Lymphozyten auf 100 Epithelzellen) ohne Schleimhautarchitekturstörung).
Bei hoch positiver Sprue- bzw. Zöliakieserologie entspricht die Morphologie einem Marsh-Typ 1.
Analysis of biopsies for quality and orientation proved them to be adequate and an additional CD3 staining was also performed.
Conclusion:
At the moment, our patient’s situation might be considered as corresponding to “potential coeliac disease”.
According to the WSPGHAN Guidelines (Oct. 2020) the girl
a) is continuing on a gluten containing diet (with an age appropriate gluten intake)
b) has a regular clinical follow-up with re-testing
c) further measures re her constipation have already been taken (i.e. PEG and enhancement of fiber in her diet upon precise analysis of the latter) with continuous improvement of symptoms
d) Eventually, re-endoscopy might / will be necessary: Both parents are agreeing with this procedure.