Case study: Importance of considering ultra-short celiac disease (USCD)

Brief description

A female patient in her mid 50s was referred to the Celiac Outpatient Clinic for nutrition counseling. She had been referred by her primary care physician to the gastroenterology department with suspicion of celiac disease. Her symptoms included fatigue, low folate, low vitamin B12, mildly high celiac serology, and gastrointestinal symptoms after eating gluten-containing foods including pain, bloating, and reflux. Her daughter had recently been diagnosed with celiac disease and was seeing a registered dietitian at the Celiac Outpatient Clinic.

Case presentation

1. Medical history

She had been triaged for endoscopy and duodenal biopsies.
Oesophago-Gastro-Duodenoscopy (OGD) with duodenal biopsies was carried out within weeks.
A hiatal hernia and gastritis was noted and a proton pump inhibitor was initiated.
Mild, generalized 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”.
Celiac disease was excluded and patient was notified.
A repeat oesophago-gastro-duodenoscopy (OGD) to ensure gastric healing was planned for six weeks.
No referral was made to see a registered dietitian 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: 191.8 lbs. (87 kg.) Jan 2026
Height: 5 ft 8 in (1.73m)
BMI: 29 kg/m^2
Weight history: 185.6 lbs. (84.2 kg.) June 2025
Interpretation of findings: weight change 3% over 6 months, clinically insignificant

4. Relevant Biochemistry

A woman in a white lab coat discusses health with a man, surrounded by fruits and a laptop

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. 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 consumed daily. Unfortunately, she had a deterioration in her symptoms but continued to consume 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 critical to consider the psychological impact of being diagnosed with a lifelong condition that requires complex and costly dietary restrictions. Following a gluten-free diet-which can be difficult to maintain-without a confirmed diagnosis of celiac disease makes this even more challenging. This can affect a patient’s ability to access accurate guidance, appropriate support, and necessary follow-up care such as blood work and bone density monitoring. It can be especially frustrating for patients who notice symptom improvement on a gluten-free diet but are unable to obtain a formal diagnosis of celiac disease.

7. Nutrition Intervention

Despite celiac disease being ruled out after the first endoscopy, when the patient contacted the outpatient clinic for advice, it was explained that a diagnosis of celiac disease was still a possibility given the symptoms described and family history.
In discussion with the gastroenterologist, HLA genetic testing was ordered. When HLA genetic testing was positive and therefore unable to rule out celiac disease, 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 the patient managed to continue a gluten-containing diet 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 celiac 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) celiac disease, she had been provided with an appointment within 6 weeks with a registered dietitian specialized in celiac disease.
The patient has already returned to a gluten-free diet post endoscopy and duodenal biopsies.
Support will include referral to resources such as the Celiac Disease Foundation, along with guidance on maintaining a long-term gluten-free diet and information about available gluten-free products.
Ongoing follow-up will be offered 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 celiac disease refers to celiac-like enteropathy with villous atrophy present only within D1 (duodenal bulb) alongside positive celiac serology.
Adult studies suggest it can account for around 8% of adult celiac disease cases (1).
Of note, if celiac serology is negative in a patient with histological changes suggestive of celiac disease but isolated to D1, ultra short celiac disease can be excluded (2).
Bone densitometry results and clinical response to a gluten-free diet are similar in both ultra short and conventional celiac disease (3, 4).
Therefore, these patients need to be supported in the same way as conventional celiac 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 celiac 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 celiac 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