Introduction
Potential Coeliac Disease (PCD) is defined by the presence of positive CD serology, anti-endomysial antibodies (EmA) and anti-tissue transglutaminase (anti-tTG), positive genetic predisposition (HLA-DQ2/DQ8), and absence of atrophy (Marsh >3) at duodenal histology in patients on a gluten containing diet (GCD).
Currently, there is no established consensus on the management of patients with PCD, particularly regarding treatment and follow-up. Literature on PCD remains limited, especially in adults, including mostly retrospective studies with small cohorts and short follow-up often without a second endoscopic sampling.
Aims & Methods
The aim of our study is to describe the presentation and outcome, including the rate of progression to biopsy-proven CD, in a cohort of adult PCD patients.
This is a retrospective single-center study including all adult PCD patients (>16 years old) referred to our Celiac Disease Clinic between January 2006 and March 2024. All patients with positive anti-tTG and at least one esophagogastroduodenoscopy (EGD) with duodenal biopsy were included. Presenting manifestations, serology and HLA-DQ genotyping, endoscopy and histology as well as outcome were recorded.
Results
A total of 34 PCD patients (mean age at presentation 33.1+/- 14.3 years, 75% female) were included in the study. The median follow-up time from first presentation (T0) was 4 years (IQR 1-6).
Out of the 34 patients, 24 were tested for CD due to the presence of symptoms (most frequently abdominal pain, dyspepsia and diarrhea), while the rest were tested in the context of CD screening for positive family history.
At T0, the median anti-tTG IgA titre was 2.5 times higher than the upper limit of normal (ULN) and EMA were positive in 27 out of 34 patients. All patients had Marsh 0-1 at duodenal histology performed within 12 months from the first positive tTG-test. The majority of patients (75%, 24/34) had at least a second EGD with duodenal biopsies. At follow-up, 8 (24%) patients were diagnosed with CD confirmed histologically (Marsh >3); CD diagnosis occurred after 2.95 ± 2.84 years from T0. In the remaining PCD patients, 20 patients (59%) kept following a GCD while continuing clinical and endoscopic follow-up. Specifically, 60% of them (followed for 3.79 ± 2.71 years), had at least another follow-up duodenal biopsy still confirming absence of atrophy with either spontaneous resolution or reduction of presenting symptoms while on a GCD. Conversely, 6 patients decided to start a gluten-free diet (GFD), despite the absence of villous atrophy at duodenal biopsies which was confirmed on a second duodenal histology in 4 out 6 of them. In these patients, the GFD lead to symptoms improvement in 83% of patients.
Conclusion
In our cohort, 24% of PCD patients develop celiac disease within almost 3 years (2.95 ± 2.84 years) from the first presentation. Most patients (59%) upon PCD diagnosis preferred staying on a GCD while being regularly followed with serology and endoscopy. Among those who decided to start a GFD despite CD not being histologically confirmed, symptoms improvement occurred in 83% (5/6), confirming that a trial of GFD in symptomatic patients could be proposed.
References
Al-Toma A, Volta U, Auricchio R, et al. European Society for the Study of Coeliac Disease (ESsCD) guideline for coeliac disease and other gluten-related disorders. United European Gastroenterol J. 2019;7(5):583-613. doi:10.1177/2050640619844125
