Tag Archives: celiac gene testing

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Spring 2016 Celiac Research Round-Up

I figured that there’s no better way to celebrate the sixth anniversary of my celiac disease diagnosis (March 2010, I have no clue what my actual date of diagnosis was) than by scouting out the medical literature for interesting new articles. I love doing this, but lately it’s been on the back burner.

  1. “Risk of Headache-Related Healthcare Visits in Patients with Celiac Disease: A Population-Based Observational Study.” By Lebwohl, B, Alaedini, A, Green, P, and Ludvigsson, J. Published in the March 12, 2016 issue of Headache.

This was a retrospective study in which almost 30,000 Swedish patients with biopsy-confirmed celiac disease were compared with controls (people without celiac). The research team found that those with celiac disease had 50% more doctors’ visits for headaches than the control population did. Interestingly enough, patients with elevated celiac antibody levels, but normal biopsies (aka “potential” celiacs) also had a significantly higher risk of headaches.

Take Home Point(s): Patients with celiac disease have a high risk of headaches. Headaches can be a presenting symptom of celiac disease.

  1. “HLA typing using buccal swabs as accurate and non-invasive substitute for venipuncture in children at risk for celiac disease.” By Adriaanse, M, et al. Published in March 2016 issue the Journal of Gastroenterology and Hepatology.

The two main genes associated with the development of celiac disease are HLA-DQ2 and HLA-DQ8. Testing for the celiac genes is typically done via obtaining a blood sample (requiring a blood draw, which can be challenging in toddlers and young children). In this study researchers compared gene analysis from buccal swabs (tissue samples obtained from swabbing the inside of the mouth) vs blood samples. They found that the buccal samples were of good enough quality to do gene analysis in all 77 subjects who were tested.

Take Home Point: Celiac genetic testing can now be performed in children without having to have blood drawn. This testing can also be done at home.

  1. “Decrease by 50% of plasma IgA tissue transglutaminase antibody concentrations within 2 months after start of gluten-free diet in children with celiac disease used as a confirming diagnostic test.” By Lund, F. et al. Published in the April 2016 issue of the Scandinavian Journal of Clinical Lab Investigations.

This article’s title is a mouthful, so bear with me! In children with biopsy-confirmed celiac disease, TTG-IgA antibodies on average decrease by 50% after 2 months on the GF diet.  In this study researchers examined a group of children who had suspected celiac disease (high TTG-IGA antibodies and symptoms) but who went GF without ever having a small bowel biopsy.  They found that this group of children (suspected or presumed celiacs) also experienced a 50% decrease in celiac antibody levels after starting the GF diet.   The researchers conclude that the significant response to the GF diet can be used as a way to to diagnose celiac disease.

Take Home Point(s): TTG-IgA antibodies decrease by half after two months in children with celiac disease after the GF diet is initiated.  In the future, the response to the GF diet may be used as a way to diagnose celiac disease in children who have not had biopsies.

  1. Infant feeding and risk of developing celiac disease: a systematic review.By Silani, S., Agostini, C., Sanz, Y., and Guandalini, S. Published in BMJ Open on January 25, 2016.

The authors reviewed 16 studies for evidence for the association of breast feeding, breastfeeding duration or the timing of gluten introduction and the later development of celiac disease. They concluded there is no evidence on the optimal breastfeeding duration or the effects of avoiding early (<4 months of age) or late (≥6 or even at 12 months) gluten introduction in children at risk of celiac disease.

Take Home Point: At the present time, there is no scientific evidence that the timing of gluten introduction and/or breastfeeding can prevent the development of celiac disease.

  1. Celiac Disease and Drug-Based Therapies: Inquiry into Patients Demands.” By Branchi, F., et al. Published in the journal Digestion in Jan. 2016.

This was a survey of 372 Italian celiac patients. Although 88% of those sampled accepted the gluten-free diet as treatment, 65% believe there is a need for alternative therapies for treatment of celiac disease.

Take Home Point: Per the authors, The GF diet is favorably accepted by most celiac patients. Nevertheless, a proportion of patients pronounce themselves in favor of the development of alternative drugs.”

Have any of you came across any recent celiac research of interest? If so, please share in the comments section.