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Case study: Importance of consideration of ultra- short coeliac disease

Brief description

A female patient in her mid 50’s self-referred to the Dietetic Led Coeliac Outpatient Clinic for advice. She had been referred by her GP to the gastroenterology department with suspicion of coeliac disease. Her symptoms included tiredness, low folate, low B12, mildly high coeliac serology and gastrointestinal symptoms after eating gluten containing foods - pain/bloating/reflux. Her daughter had recently been diagnosed with coeliac disease and was attending the dietetic service.

Case presentation

1. Medical history

She had been triaged for endoscopy and duodenal biopsies.
OGD with duodenal biopsies was carried out within weeks.
A hiatus hernia and gastritis was noted and a proton pump inhibitor was commenced.
Mild, generalised abnormal mucosa in the duodenal bulb and 1st part of the duodenum was seen but unfortunately no biopsies were taken from D1 (duodenal bulb).
Results returned of the 4 duodenal biopsy samples from D2: “Histological examination shows duodenal mucosa with preserved villous architecture. There is no crypt hyperplasia, villous atrophy, or significant intraepithelial lymphocytosis”.
Coeliac disease was excluded and patient was informed.
A repeat OGD to ensure gastric healing was planned for six weeks.
No referral was made to the dietetic service and symptoms continued.

2. Medical History & Medications

No relevant past medical history
Relevant medications: Omeprazole, Vitamin B12 injections, folic acid (now discontinued).
Allergies / intolerances: No known allergies

3. Anthropometry

Weight: 87kg Jan 2026
Height: 1.73m
BMI (kg/m2): 29
Weight history: 84.2kg June 2025
Interpretation of findings: weight change 3% over 6 months, clinically insignificant

4. Relevant Biochemistry

A healthcare professional engages in conversation with a man, surrounded by fresh fruits and a laptop on the table

5. Dietary Assessment

The patient remained on a gluten containing diet prior to her first endoscopy and only commenced a gluten free diet at her own discretion after this with reported symptom improvement seen. She restarted a gluten containing diet for 6 weeks prior to her second endoscopy and was advised on ways to ensure 3-6g gluten was taken daily. Unfortunately she had a deterioration in her symptoms but continued to take gluten until her endoscopy was completed and then restarted a gluten free diet while awaiting results. She reported she would follow a gluten free diet long term irrespective of results due to her symptom improvement.

6. Psychological factors

It is always essential to consider the huge psychological and practical impact that a diagnosis of a life-long condition with its complex and expensive dietary restrictions has. Following a gluten free diet, a challenging diet, without a clinical diagnosis of coeliac disease makes it much more difficult. This is in terms of obtaining accurate advice and support, prescription products to aid the financial costs and ongoing blood and bone scan monitoring as required. It makes it even more challenging for a patient not to obtain a diagnosis of coeliac disease when they knew their symptoms improved on a gluten free diet.

7. Dietetic Intervention

Despite coeliac disease being ruled out after the first endoscopy, when the patient contacted the department for advice it was explained that a diagnosis of coeliac disease was still a possibility in view of the symptoms described and family history.
In discussion with the consultant gastroenterologist HLA genetic testing was ordered. When this was positive and therefore unable to rule out CD it was agreed that further duodenal biopsies would be necessary.
The patient was advised to return to an ordinary gluten containing diet and a further endoscopy was carried out (approximately six weeks later).
Unfortunately severe symptoms returned but she managed to continue with a minimum 3g gluten per day for six weeks.
Results of the repeated duodenal biopsies showed: D2: “Histology shows unremarkable duodenal tissue. Specifically, there is no intraepithelial lymphocytosis, villous atrophy or crypt hyperplasia” ; D1: “Histology shows partial villous atrophy associated with intraepithelial lymphocytes. The morphology would be consistent with a clinical diagnosis of coeliac disease”.
A diagnosis of ultra-short coeliac disease was ultimately made.

8. Outcome / Follow up reviewed

As this patient now has a confirmed diagnosis of (ultra-short) coeliac disease, she had been provided with an appointment within 6 weeks in the Dietetic Led Coeliac Service.
The patient has already returned to a gluten free diet post endoscopy and duodenal biopsies.
Support will include signposting to Coeliac UK, discussion on a suitable long term gluten free diet and prescription products.
Ongoing follow up will be offered, for a minimum of 2 years, on managing a life-long gluten free diet to improve symptoms and quality of life and reduce the risk of complications with blood/ bone scan monitoring as required.

11. Reflection

Ultra-short coeliac disease refers to coeliac-like enteropathy with villous atrophy present only within D1 (duodenal bulb) alongside positive coeliac serology.
Adult studies suggest it can account for around 8% of adult CD (1).
Of note, if coeliac serology is negative in a patient with histological changes suggestive of coeliac disease but isolated to D1, ultra short coeliac disease can be excluded (2).
Bone densitometry results and clinical response to a gluten free diet are similar in both ultra short and conventional CD (3, 4).
Therefore, these patients need to be supported in the same way as conventional coeliac disease.

This case study has demonstrated the need to obtain samples from D1 as well as D2 as per guidance (5).
It shows the need to be cautious prior to excluding a diagnosis of coeliac disease if symptoms and mildly high serology suggest it but no biopsies have been taken from D1.
This experience highlighted the importance of effective multidisciplinary team collaboration in coming to a clinically informed decision in the patients’ best interests.
It also highlights the significance of ensuring a correct diagnosis for patients.
Conducting this case study has improved my awareness of the strengths and limitations of testing for coeliac disease and ultimately how crucial it is to include discussions with the patient prior to clinical decision-making.

Author

Joy Whelan

Advanced Practice Gastroenterology Dietitian at Western Health and Social Care Trust, N.Ireland

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