Esophagus to Small Intestine
Gut. 2024;73(7):1124–30
New entity of adult ultra-short coeliac disease: The first international cohort and case-control study
Background: Ultra-short coeliac disease (USCD) is defined as villous atrophy only present in the duodenal bulb (D1) with concurrent positive coeliac serology. The authors present the first, multicentre, international study of patients with USCD. Methods: Patients with USCD were identified from 10 tertiary hospitals (6 from Europe, 2 from Asia, 1 from North America and 1 from Australasia) and compared with age-matched and sex-matched patients with conventional coeliac disease. Findings: Patients with USCD (n = 137, median age 27 years, interquartile range [IQR], 21–43 years; 73% female) were younger than those with conventional coeliac disease (27 vs. 38 years, respectively, p < 0.001). Immunoglobulin A-tissue transglutaminase (IgA-tTG) titres at index gastroscopy were lower in patients with USCD versus conventional coeliac disease (1.8 x upper limit of normal [ULN] [IQR, 1.1–5.9] vs. 12.6 x ULN [IQR, 3.3–18.3], p < 0.001). Patients with USCD had the same number of symptoms overall (median 3 [IQR, 2–4] vs. 3 [IQR, 1–4], p = 0.875). Patients with USCD experienced less iron deficiency (41.8% vs. 22.4%, p = 0.006). Both USCD and conventional coeliac disease had the same intraepithelial lymphocytes immunophenotype staining pattern; positive for CD3 and CD8, but not CD4. At follow-up having commenced a gluten-free diet (median of 1181 days, IQR, 440–2160 days) both USCD and the age-matched and sex-matched controls experienced a similar reduction in IgA-tTG titres (0.5 ULN [IQR, 0.2–1.4) vs. 0.7 ULN [IQR, 0.2–2.6], p = 0.312). 95.7% of patients with USCD reported a clinical improvement in their symptoms.
Interpretation: Patients with ultra-short coeliac disease are younger, have a similar symptomatic burden and benefit from a gluten-free diet. This study endorses the recommendation of duodenal bulb sampling as part of the endoscopic coeliac disease diagnostic work-up.
DOI: 10.1136/gutjnl-2023-330913
Prof. Dr. Peter Hasselblatt
Department of Internal Medicine II, University Medical Center Freiburg (Germany)
Ultra-short celiac disease – a new clinical entity?
Ultra-short celiac disease describes a manifestation of celiac disease (CD) in which the inflammation and villous atrophy are confined to the duodenal bulb. This disease presentation was already described several years ago. In this publication, the authors now present data from the first multicenter patient cohort. Patients with ultra-short celiac disease were younger compared to those with conventional disease manifestation, yet their symptom severity was comparable. Serologically, the transglutaminase antibody titers were significantly lower; relevant iron deficiency was rarely observed. All patients responded very well to a gluten-free diet. It remains uncertain whether ultra-short celiac disease is a distinct disease entity or whether it is in fact a transition from potential CD (serological detection of transglutaminase antibodies without symptoms and intestinal inflammation) to conventional CD. After all, a noteworthy proportion of patients had evidence of at least lymphocellular inflammation without villous atrophy in the postbulbar duodenum. Another clinically relevant finding is the fact that almost half of patients had undergone endoscopy before being diagnosed with CD and that their diagnosis was missed because biopsies had not been taken from the duodenal bulb. Current CD guidelines recommend taking 6 biopsies from all sections of the duodenum, including the bulb. Transglutaminase antibody titers were only moderately elevated (< 10-fold) in this patient cohort, underscoring the importance of comprehensive endoscopic examination and biopsy in symptomatic individuals. However, serological testing is still underused in both individuals at risk (e.g., first-degree relatives of CD patients), and in symptomatic patients. This publication thus aims to enhance our awareness of CD diagnostics, ultimately significantly improving patient care.