Data from the Mayo clinic indicate that Celiac patients are not followed up adequately (Clin Gastroenterol Hepatol 2012; 10: 893-99).
Data was extracted on 122 patients from Olmsted County. Due to the Rochester Epidemiology Project, a comprehensive medical record is available for the entire county population (since 1966).
- At 1 year following diagnosis, 41% of patients had followup visits; 89% within 5 years.
- At followup visits, gluten-fee diet compliance was assessed in 33.6% and 79.8% respectively at 1 and 5 years.
- The minority met with a dietician: 3.3% and 15.8% respectively at 1 and 5 years.
- Serological followup was performed in 22.1% and 65.6% respectively at 1 and 5 years.
The related editorial (pages 900-901) makes the point that quality follow-up and outcomes would be aided by clear guidelines. General guidelines in our practice are noted below.
When I review lists of patients with specific diagnoses, I am often surprised by the lack of follow-up for a number of conditions, not just celiac disease. Developing a system to remind patients about follow-up for a wide range of conditions would be a worthwhile goal for pediatric practices.
Additional references/blog entries:
- Is a biopsy necessary in Celiac disease?
- Good News for Celiac Disease
- JAMA 2009; 302: 1171-78. Intestinal histopathology and increased mortality in celiac disease
- Am J Gastroenterol 2010; 105: 1412-20. Mucosal recovery and mortality in adults with celiac disease after GFD treatment
- Gastroenterology 2006; 131: 1981-2002.
General Guidelines in our practice (developed by Dr. Jeff Lewis in 2009)
1. Who to test
There is a wide spectrum of clinical presentation from the classical malabsorption to a number of non-GI presentations. Some studies suggest that the frequency of celiac in a peds GI clinic is as high as 1:40 (general population is 1:130). Presentations that are common other than diarrhea, distention or FTT include constipation, anemia, abdominal pain, intussception, vomiting, short stature abnormal LFT’s, pancreatitis, and asymptomatic detection upon screening. 30% of newly diagnosed patients are overweight. There is about a 5% risk in 1st and 2nd degree relatives, patients with type I DM, Down syndrome, and thyroiditis. In 300 pediatric patients over 9 years, 10% presented with diarrhea, 20% abdominal pain, 23% as a result of screening, 5% with constipation, and 26% with growth issues. Rates in family members include 1st degree relative 5 – 10%, MZ twins – 75% concordance rate, DZ twins – 10% concordance rate and HLA identical sibs – 30% concordance rate.
Recommend: Think about celiac disease with a variety of GI symptoms including those present in overweight patients. Screen asymptomatic patients with Down’s, William’s syndrome, Type I DM, Thyroiditis, and in patients who are family members of celiac patients.
2. How to Test
Serology: Under age 3 years (some say 2 years) there is consensus that to consider including antigliadin IgA and AGA IgG along with anti-TTG and quantitative IgA. Over age 3, anti-TTG and quantitative IgA should suffice but many are recommending also ordering EMA. There is good evidence that anti-TTG assays vary from lab to lab. There is also good evidence that anti-TTG in an individual may fluctuate over time. Patients in the Teddy study (The Environmental Determinants of Diabetes in the Young (TEDDY …) have had abnormal anti-TTG followed by normal levels on the next blood draw. 17/82 had a positive anti-TTG convert to a negative on a regular diet and remain negative at all follow-ups. For purposes of the Teddy study, two consecutive abnormal anti-TTG over 0.5 should be the threshold for EGD. EGD after one abnormal TTG in the asymptomatic screened individual, may be too soon and lead to a false sense of security. In a patient on a GF diet, testing serology may still be useful if the GF diet is less than 6 months. HLA typing may help rule out celiac in patients on GF diet.
Gluten exposure prior to biopsy: There is no consensus on how long a patient needs to be back on gluten before testing but most experts suggest at least a month and some 2 or more months.
Biopsy is still considered essential in confirming the diagnosis. Some studies suggest that some patients (2 to 3% of kids and perhaps adults) may show abnormalities in the bulb but not in the 2nd or 3rd portion of the duodenum.
Recommend: anti-TTG and IgA will catch most patients with celiac. Under age 3, consider obtaining AGA IgG and AGA IgA. Addition of EMA may increase sensitivity of the anti-TTG. Biopsy is still considered by celiac experts to be essential for the diagnosis. At least 6 duodenal biopsies are recommended. Some recommend 4 additional biopsies from the duodenal bulb. HLA testing has a role (mostly in excluding the possibility of celiac) though there are rare patients (about 1 in 100 celiac patients though some report much less) that are DQ2 and DQ8 negative. Not all labs test for the beta chain and this can lead to a false negative HLA DQ2.
3. When might scoping not be necessary?
There is no expert consensus on this. If serology and symptoms are highly suggestive of celiac in a patient with a first degree relative with celiac disease, it is reasonable to make a diagnosis without endoscopic exam. To confirm diagnosis, it is helpful to see the antibody levels fall on a GF diet (usually retest after 6 months). Some studies have shown lower compliance rates in patients without biopsy proven celiac.
Recommend: It is a personal MD:patient:parent decision as to diagnosing celiac without a scope. If you do diagnose without biopsy, make sure that serology improves on a GF diet. Celiac centers standard of care still includes biopsy all newly diagnosed patients.
4.Treatment once the diagnosis is made
NIH consensus conference on celiac recommends:1) treatment include referral to a trained dietician (Atlantametroceliacs.com lists nutritionists for adults) 2) availability of a community support group – georgiarock.org or email to firstname.lastname@example.org 3) follow-up with an MD experienced with celiac. 3) lifelong adherence to gluten-free diet 4) identification and treatment of nutritional deficiencies 4) follow-up with an MD familiar with celiac ideally as part of a multidisciplinary team (primarily in partnership with nutritionist).
Recommend: All newly diagnosed patients or those struggling with compliance should see a specially trained dietician. You can also refer to the ROCK group – georgiarock.org or email@example.com You should see the patient in follow-up after diagnosis.
Follow up frequency varies widely from every 3 months after initial diagnosis with a nutritionist and an MD to lesser intervals. Once well controlled, many experts recommend annual visits, some every 2 years. At diagnosis it is often recommended to look for deficiencies in iron, folate, vitamin D and B12. Patients are also at risk for other fat soluble vitamin deficiencies and zinc deficiency. Bone mineral density is often performed one year after diagnosis with abnormalities referred to endocrinology – recommendations in pediatrics are still in debate. As patients with celiac are at substantial risk for other autoimmune disorders, it is worth considering thryoid problems (eg. check TSH and free T4) early on after diagnosis and once every 1 to 2 years though this practice is of debatable cost effectiveness. It can take up to a year for the anti-TTG to normalize but it should be coming down significantly in 6 months.
Recommend: At time of diagnosis, usually a CBC should be obtained to allow you to look for clues about iron, folate, and B12. It is not unreasonable to check 25 OH Vitamin D levels as well. At least yearly follow-up labs should include an anti-TTG but may also include TSH, free T4, Vitamin D and a CBC. Screening for folate, B12, and iron deficiency may also be considered. Follow up closely after diagnosis can be helpful in dealing with the stress of a major life change and to ensure compliance and understanding of the disease.
6. Testing family members
It is clear that 1st and 2nd degree family members – with and without symptoms are at high risk. Offering to screen siblings and parents once a diagnosis is made is reasonable due to risks associated with celiac disease. If an at risk patient screens negative with serology, it does not mean that they can not get celiac disease in the future. Some experts recommend retesting every few years or sooner if there are symptoms. It is important to document that you recommended screening to 1st degree relatives.
Recommend: Strongly recommend that symptomatic first degree relatives be screened for celiac disease. It is reasonable and helpful to offer to do the screening of parents and siblings yourself. There is good data that it is important to screen asymptomatic people at risk as there are increased risks in adults of developing cancers, auto-immune conditions, anemia, and osteoporosis in untreated celiac disease. There are no good recommendations for retesting at risk individuals who initially test negative. HLA typing, if negative, can be useful in eliminating the need for routine rescreening.
7. Feeding infant siblings
A multicenter trial is underway to try to determine the best time to introduce gluten to genetically at risk individuals. There is good evidence that breast-feeding can be protective. There is good evidence that introducing small amounts of gluten while still breast-feeding may be protective. There is good evidence that introduction of gluten before four months of age may increase the risk of developing celiac. Some evidence exists that the best practice is to give a teaspoon of a gluten containing cereal a few time a week between 4 and 6 months of age (Scandinavian data and prospective data out of the Denver diabetes trial). Fassano suggests that there may be benefit in keeping the infant gluten-free for the 1st year of life and introduce while still brest feeding after a year of age. Final answer is still pending. Gluten can be found intact in human breast milk but not cow’s milk. No recommendations regarding mother’s diet while breastfeeding a patient with or at risk of getting celiac are available.
Recommend: Do not introduce gluten to at risk infants before 4 moths of age. Support breast-feeding as something that may delay or even prevent the development of celiac disease. There is some data to suggest that tolerance may be more likely of small amounts (1 tsp a day) of gluten containing food are introduced between 4 and 6 months of age. During breast-feeding, a mother who does not have celiac may eat gluten during the pregnancy and throughout infancy.