Accurate Diagnosis of Coeliac Disease - Importance of Appropriate Serological and Histological Interpretation
Patient Background & Referral Details
A male patient in his mid 60’s was referred to the Dietetic Led Coeliac Outpatient Clinic for the management of Coeliac Disease with a new diagnosis made based on symptoms of significant weight loss and Marsh 3B villous atrophy and increased lymphocytosis. Coeliac serology results were awaited.
Case presentation
1. Presenting Complaint / History of Presenting Issue
- The patient was admitted to hospital presenting with sweats, weight loss estimated >6kg, testicular pain, muscular pain, headaches, deranged LFTS and persistently raised inflammatory markers. He remained an inpatient for 5 weeks.
- Investigations included: CT brain and chest, US liver, PET CT, MRI brain, lumbar puncture, ECHO, virology, stool and blood testing and OGD with duodenal biopsies.
- Diagnosis: Major pathology was excluded with test results showing epididymitis (inflammation of the epididymis, a coiled tube at the back of the testicle), fatty liver, mild chronic ischaemic changes and non-specific infection. OGD showed a hiatus hernia and gastritis with duodenal biopsies showing: Marsh 3B villous atrophy and increased intraepithelial lymphocytes; > 30 per 100 enterocytes.
- A diagnosis of coeliac disease was made based on report “the features are in keeping with coeliac disease”. Plans for coeliac serological testing to follow.
2. Medical History & Medications
- Relevant past medical history included diabetes mellitus, hyperlipidaemia, sciatica and epididymo-orchitis
- Medications: Metformin, Canagliflozin, Atorvastatin, Ciprofloxacin and Omeprazole.
- Allergies / intolerances: Penicillin and Amoxicillin
3. Anthropometry
- Weight: Est 93kg at time of admission and further reducing to 85kg during investigations
- Height: 1.8m
- BMI (kg/m2): 26 at lowest
- Weight history: 100kg at repeat OGD and one year post initial investigations (usual weight)
- Interpretation of findings: Unintentional significant weight loss approx. 15% usual body weight in less than 3 months
4. Relevant Biochemistry
5. Dietary Assessment:
The patient was referred to the Dietetic Led Coeliac Clinic newly diagnosed with CD. However, the patient queried this diagnosis as he felt he had no ongoing symptoms or family history of CD. Coeliac serology had subsequently returned negative. All tests were done on a gluten containing diet.
His weight had now been regained. His iron, B12 and folate levels were normal and he denied any GI symptoms. In the absence of positive serology it had to be considered the villous atrophy may not have been caused by coeliac disease, but by the non-specific infection instead (1).
6. Psychological factors
It was essential to consider the huge psychological and practical impact that a diagnosis of a life-long condition with its complex and expensive dietary restrictions would have. It is essential not to unnecessarily advise it.
7. Dietetic Intervention
- With the diagnosis of coeliac disease questionable and 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 a further endoscopy and duodenal biopsies would be necessary.
- The patient was advised to remain on an ordinary gluten containing (diabetic) diet and a further endoscopy was carried out (approximately six months later). Results of the repeated duodenal biopsies showed: There is no evidence of villous atrophy or increased intraepithelial lymphocytes.
- A diagnosis of coeliac disease was ultimately ruled out.
8. Outcome / Follow up reviewed
As this patient did not have coeliac disease, he has been discharged from the Dietetic Led Coeliac Service. The patient had not restricted/cut out gluten at any stage of the investigations. He aims for a regular meal and snack pattern to help with the management of his diabetes.
On a brief telephone review, one year later, the patient reported that he has continued on a regular diet and that he is feeling well. He has no concerns regarding his appetite or weight and denies any other gastrointestinal issues.
Reflection
- This case study has demonstrated the need to obtain confirmatory coeliac disease serology if not done prior to endoscopy.
- It shows the need to be cautious prior to considering a diagnosis of seronegative coeliac disease.
- 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.
Authors
Joy Whelan - Advanced Practice Gastroenterology Dietitian at Western Health and Social Care Trust, N.Ireland
Aimee McAuliffe, student dietitian, Ulster University Coleraine
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- Ludvigsson JF, Bai JC, Biagi F, Card TR, Ciacci C, Ciclitira PJ, Green PH, Hadjivassiliou M, Holdoway A, van Heel DA, Kaukinen K, Leffler DA, Leonard JN, Lundin KE, McGough N, Davidson M, Murray JA, Swift GL, Walker MM, Zingone F, Sanders DS; BSG Coeliac Disease Guidelines Development Group; British Society of Gastroenterology. Diagnosis and management of adult coeliac disease: guidelines from the British Society of Gastroenterology. Gut. 2014 Aug;63(8):1210-28.