Coeliac disease

I think I may have made my first diagnosis of coeliac disease in a child of 14 year old. Her presentation was atypical. She saw me for something unrelated and when I was about to conclude the consultation. Mum told me that school wants her daughter to have a mental health assessment. Upon further questioning, Mary has not been going to school. She feels tired all the time and she cannot wake up in the morning. She has a normal examination. Her weight and height are appropriate for her age. Blood tests revealed iron deficiency and positive IgA tTG and IgG to deaminated glaidin.


Key points:

- It is common, affects 1% of the population.
- It is very easy to miss as it can present atypically.
- IgA transglutaminas and IgG deaminated glaiden are the current recommendation for coeliac disease investigations
- HLA DQ2 and HLA DQ8 are present in 99% of people with coeliac disease but they are also present in 50% of the populations. Patients who don't have the above genes, can't have coeliac disease.
- The golden diagnosis is small bowel biopsy
- It is associated with other autoimmune conditions
- Management is lifelong gluten free diet. It can cause complications such as malnutrition. Need to refer to dietitian. Don't forget some medications have gluten in it too !
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References:
- Common sense pathology: https://www.rcpa.edu.au/getattachment/5f4e8920-65cb-4ec1-8a66-29c7887f336f/Celiac-Diseases.aspx