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Screening Benefits First-degree Relatives of Celiac Disease Patients

Celiac.com 03/03/2014 - Spotting celiac disease early is important for optimal patient outcome. However, serological markers of celiac disease aren't much good for spotting mild histopathological lesions in adults at risk for celiac.

A team of researchers recently set out to assess the usefulness of human leukocyte antigen (HLA)-DQ2/8 genotyping, followed by duodenal biopsy for the detection of celiac disease in adult first-degree relatives (FDRs) of patients with celiac disease.

The research team included L. Vaquero, A. Caminero, A. Nuñez, M. Hernando, C. Iglesias, J. Casqueiro, and S. Vivas. They are variously affiliated with the Gastroenterology Unit, the Pathology Department, and the Pediatric Department of the University Hospital of León, Altos de Nava, with the Institute of Molecular Biology (INBIOMIC), the Microbiology Department and the Institute of Biomedicine (IBIOMED) at the University of León, all in León, Spain.

For their study, the team looked at ninety-two adult DQ2/8 positive FDRs. They offered duodenal biopsy irrespective of the serology result or associated symptoms. They then noted clinical features, associated autoimmune diseases and biochemical parameters.

The team conducted duodenal biopsies on sixty-seven FDRs, averaging 34 years of age. Thirty-two of those patients (48%) showed histopathological changes, which broke down as follows: twelve patients Marsh I (18%), one Marsh II (1.5%), four Marsh IIIA (6%), five Marsh IIIB (7.5%) and ten Marsh IIIC (15%).

Seventeen of the sixty-seven patients (25%) showed positive serological markers, with only one showing Marsh I and the remainder presenting some degree of duodenal atrophy (Marsh III).

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Thirty-three of the sixty-seven patients (54%) suffered gastrointestinal symptoms, with dyspepsia being the most common complaint.

The distribution of symptoms, anaemia and autoimmune disease was not changed by a patient's duodenal histopathological stage.

Overall, in first-degree relatives, current blood-based screening would diagnose 50% of the cases that displayed any celiac disease characteristic, and miss 6% of the cases with mucosal atrophy.

From these results, the team concludes that adult first-degree relatives of patients with celiac disease can benefit from a screening strategy on the basis of HLA-DQ genotyping, followed by a duodenal biopsy.

FDRs with gastrointestinal and other symptoms may see improvement on a gluten-free diet.

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Have been dealing with splinter hemorrhages on three of my toe nails since February. I did go to my doctor who rightly so did a very complete blood work-up ruling out other diseases such as lupus and RA and referred me to several other doctors to make sure that it was not cancer, endocarditis, or something serious. I went to the doctors. I have done some research on vitamin deficiency and it seems that some link splinter hemorrhages to vitamin C deficiency. For the past 2 1/2 weeks I have been eating 3 clementines a day (in addition to the usual multivitamin that I take) and it seems to be helping the splinter hemorrhages. One has grown out and not returned. Visited my GI doctor today and talked about malabsorption of nutrients as a potential issue. We are doing more blood work and checking nutrient levels. I have to believe it has something to do with the celiac. Sorry I don't have a better answer, but like you am trying to figure this out. Please let me know if you find any answers, and yes, be sure to check with your doctor to rule out anything serious.

You only need one positive on the celiac panel. I tested positive only to the DGP IgA and had a Marsh Stage IIIB intestinal damage. Good luck!

Welcome to the forum. First, you need to get copies of your celiac test to confirm you actually had it done and what the results were. Second, to confirm a diagnosis, you must obtain biopsies via an endoscopy. Were the doctors gastroenterologists? Third you need to research celiac disease. Yes, you can be asymptomatic, but could still have instestinal damage as the small intestine is vast. here is a good place to start: http://www.cureceliacdisease.org/screening/ You might think you are a silent celiac, but ever been anemic? Had your bones checked?

That's good to know about Texas Children's, unfortunately I don't believe they accept our insurance. Our former pediatrician joined with one of their medical groups and we had to find a new one due to insurance. I'll check out their site though.

9 months ago I went to my doctor for normal blood work. She called me to tell me everything looked great, but o yeah, my gluten sensitivity levels were extremely high. I should probably stop eating gluten since it looks like I have celiac. She hung up and I never heard from her again. I cut out gluten completely, even though I have never experienced one single symptom of celiac. 9 months later, I decided to reach out to another doctor to get a second opinion, as I experienced absolutely zero change on 9 months of strict gluten free diet. All this doctor did was request the results from the previous doctor, tell me it is confirmed I have celiac, and hung up the phone. This angers me tremendously on two counts. One, I have absolutely zero symptoms of celiac, and would NEVER know if I was "glutened". Two, the complete lack of information or support from both doctors is horrifying to me. And finally, I simply do not believe the diagnosis and as considering just starting to eat a normal diet again. I would never know the difference. I am really just venting because this situation upsets me so much, and I have suffered mentally and socially from going gluten free. Since I have absolutely zero symptoms, even if I was actually celiac, I highly doubt anything would ever come of it if I continued to eat gluten. I could just pretend I never heard from either terrible doctor and go on living my life. Someone has to have been in the same situation as me, right?