Accurate Diagnosis of Celiac Disease - Importance of Appropriate Serological and Histological Interpretation
Patient Background & Referral Details
A male patient in his mid 60s was referred to the Dietetic Led Celiac Outpatient Clinic for the management of Celiac Disease with a new diagnosis made based on symptoms of significant weight loss and Marsh 3B villous atrophy and increased lymphocytosis. Celiac serology results were pending.
Case presentation
1. Presenting Complaint / History of Presenting Issue
- The patient was admitted to hospital presenting with sweats, weight loss estimated >6 kg. (13.2 lbs.), testicular pain, muscular pain, headaches, abnormal liver function tests, and persistently raised inflammatory markers. He remained inpatient for 5 weeks.
- Investigations included: CT brain and chest, US liver, PET CT, MRI brain, spinal tap, ECHO, virology, stool and blood testing and Oesophago-Gastro-Duodenoscopy (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 ischemic changes and non-specific infection. OGD showed a hiatal hernia and gastritis with duodenal biopsies showing: Marsh 3B villous atrophy and increased intraepithelial lymphocytes; > 30 per 100 enterocytes.
- A diagnosis of celiac disease was made based on report “the features are in line with celiac disease”. Plans for celiac serological testing to follow.
2. Medical History & Medications
- Relevant past medical history included diabetes mellitus, hyperlipidemia, sciatica and epididymo-orchitis
- Medications: Metformin, Canagliflozin, Atorvastatin, Ciprofloxacin and Omeprazole
- Allergies / intolerances: Penicillin and Amoxicillin
3. Anthropometry
- Weight: Est 93 kg. (205 lbs.) at time of admission and further reducing to 85 kg.(187.4 lbs.) during investigations
- Height: 5 ft. 11 in.
- BMI (kg/m2): 26 kg/m2 at lowest
- Weight history: 220.5 lbs. 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. Nutrition Assessment:
The patient was referred to the Dietetic Led Celiac Clinic newly diagnosed with celiac disease. However, the patient questioned this diagnosis as he felt he had no ongoing symptoms or family history of celiac disease. Celiac serology had subsequently returned negative. All tests were completed on a gluten-containing diet.
His weight had now been regained. His iron, B12 and folate levels were normal and he denied any gastrointestinal symptoms. In the absence of positive celiac disease serology it had to be considered that the villous atrophy may not have been caused by celiac 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 a gluten-free diet.
7. Nutrition Intervention
- With the diagnosis of celiac disease questionable and in discussion with the gastroenterologist, HLA genetic testing was ordered. When this was positive and therefore unable to rule out celiac disease, it was agreed that a further endoscopy and duodenal biopsies would be necessary.
- The patient was advised to remain on an ordinary gluten-containing (carbohydrate-controlled for diabetes) 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 celiac disease was ultimately ruled out.
8. Outcome / Follow up reviewed
As this patient did not have celiac disease, he has been discharged from the Dietetic Led Celiac 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 demonstrated the need to obtain confirmatory celiac disease serology if not done prior to endoscopy.
- It shows the need to be cautious prior to considering a diagnosis of seronegative celiac 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 celiac 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.