Case to discuss: celiac disease or autoimmune enteropathy?

A female patient, 6 years old, was recently diagnosed with diabetes mellitus type 1.

She had no gastrointestinal symptoms but within the performed routine check-up was celiac disease screening. Tissue transglutaminase antibodies came back positive (43 – 4x ULN) and upper endoscopy was scheduled. Histology showed short villi, there are spots with completely flat mucosa, 104 intraepithelial lymphocytes on 100 enterocytes (immunohistochemistry CD3), hyperplastic crypts, Marsh-Oberhuber 3C.

However, the pathologist concluded that the differential diagnosis was celiac disease and autoimmune enteropathy.
According to all the above, we have diagnosed celiac disease and the patient was put on gluten free diet. The question is how can we exclude autoimmune enteropathy?

Expert opinion #1

Based on the clinical situation (T1DM) and laboratory results (elevated TGA), and histopathology (Marsh 3c), this is a clear-cut celiac disease.
Pathologists’ dd can, of course, be broad, however in the context of mild (no) GI symptoms and all markers of celiac autoimmunity, clinicians can without a doubt confirm celiac disease as a final diagnosis.
A question regarding the need for a diet in asymptomatic patients has to be thoroughly discussed with the patient/parents with all pros/cons. I would suggest a GFD, bearing in mind her age and expected growth acceleration in the near future.

Expert opinion #2

In most cases, patients with autoimmune enteropathy have major health problems from the first year of life. Autoantibodies to enterocytes in the blood sample may be tested. This patient is more likely to have celiac disease.

Expert opinion #3

Serum measurements of anti-enterocyte antibodies could be done. Also, “spots with completely flat mucosa” advocate for the patchy lesions in celiac disease, whereas in autoimmune enteropathy, the lesions are histologically uniform. 

Expert opinion #4

Neither coeliac disease nor autoimmune enteropathy is a diagnosis established by pathology alone. The pathological finding is one of the factors, but one has to take into consideration the whole clinical picture: the clinical signs and the serology. This is a case of coeliac disease. Seeing the lack of previous clinical history and signs/symptoms, the clinician can omit the possibility of autoimmune enteropathy.