Tag Archives: pediatric celiac disease

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Pediatric Celiac Disease Updates

**As of January 2017 I have stopped updating this webpage and all comments are now closed. Please visit my new page, www.jessicamaddenmd.com, for my new posts, updated celiac information, and the ability to comment on my old posts. Thank you to all of you for your support!**

I came across on article on Medscape, a reputable site for medical information, a few days ago that scared me a bit. The title is “Gluten-Free Diet Does Not Repair Intestinal Damage in Some Children with Celiac Disease” and it discusses a recent study by Dr. Margaret Leonard and her team at the celiac center at Massachusetts General Hospital showing that nearly 20% of children with celiac disease continue to show signs of intestinal damage on biopsies after they’ve been on the gluten-free diet for quite a while (more than 12 months). In many cases the pediatric subjects with persistent damage had experienced a normalization of their celiac antibody levels and no longer had symptoms. The long term impact of the delayed healing is unclear, but the authors speculate that ongoing inflammation may effect physical and cognitive development as well as increase the risk of lymphoma, low bone mineral density, and/or fractures.

I think we all know that the currently accepted treatment for celiac disease is to stay on a strict gluten-free diet for life. However, the management of celiac disease requires more than just eating gluten-free, and a lot of follow-up.

A group of celiac disease experts, including Drs. Fasano and Guandalini, recently drafted updated guidelines for the management of pediatric celiac disease, which were published in the journal Pediatrics a few months ago. All recommendations are based on scientific evidence as well as their experiences taking care of patients with celiac disease. Below is a quick summary of their recommendations (please see reference at end of article for full details):

Bone Health: Celiac Disease can lead to problems such as bone pain, low bone mineral density and unexplained fractures. Fortunately, initiation of a gluten-free diet restores bone mass to normal density in almost all children and adolescents.

-all children should be screened for vitamin D deficiency at the time of diagnosis
-parents should be counseled on age-appropriate intake of both calcium and vitamin D
-children who do not adhere to the gluten-free diet should have bone density testing
performed

Hematologic (Blood) Problems: Iron deficiency anemia is the most common.

-all children need to be screened for iron deficiency anemia at the time of diagnosis and
repeat complete blood counts (CBCs) should be done at follow-up visits
-children with celiac do not need to be routinely screened for folate deficiency

Endocrine-Associated (Hormonal) Problems: Autoimmune thyroid disease, type 1 diabetes, Addison disease, parathyroid disorders, and growth hormone deficiency are all associated with celiac disease.

-all children should be screened for thyroid disease at the time of celiac diagnosis AND
at their follow-up visits
-parents should be counseled on the signs of symptoms of type 1 diabetes, but children
do not need to be tested for diabetes unless symptoms develop

Liver Function: Celiac disease can be associated with elevated liver enzymes and hepatitis. Many patients with celiac disease do not respond to the Hepatitis B vaccine series.

-children with celiac disease should have their liver enzymes checked at the time of diagnosis
-Hepatitis B immunization status should be checked at the time of celiac diagnosis

Nutritional Problems and Celiac Disease: Nutritional problems can stem from both intestinal inflammation as well as of a result of the gluten-free diet.

-all children with celiac disease need to have their height, weight, and body mass index
(BMI) monitored
-all should be referred to an experienced registered dietician who is knowledgeable
celiac disease (not all are!)
-multivitamins should be offered at the time of diagnosis

Testing and Monitoring for Celiac:

-the initial screening tests for celiac should include a quantitative IgA and IgA anti-tissue
transglutaminase (tTG). These tests should also be followed after diagnosis to monitor
compliance with the gluten-free diet.
-10% of celiac cases are seronegative, which means that the celiac antibodies are falsely negative even though celiac disease is present!
-celiac genetic testing can be helpful in trying to figure out whether to pursue a gluten challenge and further testing in kids who have been put on the gluten-free diet prior to testing.

I wish a Happy Thanksgiving to all who celebrate and I hope to reply back to your emails and Facebook messages as time permits over the next few weeks.  I am so grateful for your readership. enthusiasm, and for motivating me to continue to keep up this page. I hope that you are all able to enjoy quality time with your loved ones as the holidays approach.  We moved back to my hometown of Cleveland a few months ago and I’ll be hosting my side of the family for Thanksgiving for the first time in about 9 years! Please feel free to share your favorite GF Thanksgiving recipes in the comments section if you’d like as I’m a bit nervous about cooking for so many people!

References

Leonard, M., Weir, D., DeGroote, M., et al. Value of IgA tTG in Predicting Mucosal Recovery in Children with Celiac Disease on a Gluten Free Diet. Journal of Pediatric Gastroenterology and Nutrition. Published online Nov 3, 2016.

Snyder, J., Butzner, M., DeFelice, A., Fasano, A., Guandalini, S., Liu, E, Newton, K. Evidence-Informed Expert Recommendations for the Management of Celiac Disease in Children. Pediatrics. 138(3). September 2016.

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Which Children Should Be Tested For Celiac Disease?

This is a question that seems to come up again and again. I have personally struggled with figuring this out over the last few years as well, so I have read as much as I can about the topic of screening during childhood.

Earlier today I read a Medscape article titled “Celiac Disease: Which Children Should be Tested?” which was written by Lara C. Pullen PhD, and published online on March 23, 2015. In this article, Dr. Pullan does a great job of summarizing the current evidence and opinions about which groups of children should be screened/tested for celiac disease, and emphasizes that this is important because many children with celiac disease do not have symptoms.

For the most part, experts agree that children with risk factors for celiac disease, including those with a first degree relative (sibling and/or parent) with celiac, Down Syndrome, Turner Syndrome, William’s Syndrome, type 1 diabetes, and other autoimmune diseases, such as autoimmune thyroid disease, should be tested for celiac disease.  Likewise, children with overt symptoms of celiac, including recurrent abdominal pain, diarrhea, abdominal distension, and poor growth, should also be tested.

Dr. Rita Verma, a pediatric gastroenterologist from the Children’s Hospital of Philadelphia, is quoted several times throughout the article. Although Dr. Verma would prefer that ALL children be screened for celiac disease, she emphasizes that it is important for pediatricians to screen when they have even the slightest suspicion that celiac disease may be present. She sees many children with atypical symptoms of celiac disease in her practice, and these atypical symptoms can include anemia, chronic constipation, headaches, seizures, alopecia (hair loss), tiredness, pancreatitis, irritable bowel syndrome, and unexplained elevated liver enzymes.

At the minimum, celiac antibody screening blood tests should include the following: a total immunoglobulin IgA, anti-transglutaminase (anti-TTG) and anti-endomysial IgA antibodies. A child who tests positive for both TTG and endomysial antibodies likely has celiac disease and should be referred to a pediatric gastroenterologist for further evaluation.

Dr. Verma emphasizes that a dietary history should be obtained from parents prior to celiac blood screening, as some children between ages 2 and 3 may not eat enough gluten for their tests to be positive in the presence of celiac disease.  If this is the case a “gluten challenge” may need to be performed in order to get accurate celiac testing results. Please refer to this link for recommendations on the amount and duration of gluten needed for adequate testing for celiac disease.

For more on celiac disease in children and “high risk” pediatric groups, you can refer to my previous post from January 2014 that summarizes an excellent review article by Dr. Guandalini. He is one of the world’s experts on pediatric celiac disease and is at the University of Chicago.

Out of curiosity, have any of your children been diagnosed with celiac disease after having only “atypical” symptoms? Have any been totally asymptomatic?  If so, I would love to hear your experience(s) in the comments section. Thank you in advance for your willingness to share.

Also, if you are looking for a good laugh (or maybe cry) I encourage you to create a Medscape account and actually take the time to read through comments written by medical professionals–it will make you realize that how badly celiac awareness is needed in the medical community.

 

 

Univ of Chicago CD Center

Update on Pediatric Celiac Disease from the University of Chicago 12/2014

I’ve been so busy learning new information about celiac disease and non celiac-gluten sensitivity that I haven’t had a chance to post for a while. I was fortunate to be one of 30 practitioners selected for the 2014 Preceptorship Program at the University of Chicago Celiac Disease Center, which took place 12/4-12/5. We had an intense 2 days filled with lectures on topics ranging from “The Pathology of Celiac Disease” to “Celiac Disease and the Skin” to “Celiac Disease and Developmental Disorders.” I was also able to spend time with Dr. Guandalini in the pediatric celiac clinic at the University of Chicago. Overall it was a great experience and I learned a TON about this disease which I hope to be able to share in upcoming months with other doctors, nurses, patients, friends and family, and all of you.

As both a pediatrician and mother of 4 children who are all at high risk of eventually developing celiac disease, I was especially interested in Dr. Guandalini’s lecture entitled “Celiac Disease: Update on the Pediatric Perspective.”  Here are some of the “take home” points of Dr. Guandalini’s presentation.

  • The incidence of celiac disease is definitely increasing. In 1990 5.2/100,000 Americans had celiac disease. In 2010 19.1/100,000 did.
  • The increases in celiac disease appears to be multifactorial and may be related to antibiotic use, Western diet, elimination of H pylori from GI tracts, birth by c-section, infant feeding practices, and reduced exposures to infections during childhood. The final common pathway appears to be a change in microbiota (bacterial balance), or dysbiosis, in genetically predisposed individuals.
  • He emphasized that glycophosphate, also known as “Round Up,” does not cause celiac disease, and used this as an example of the misinformation that is found online.
  • Children who carry 2 copies of the HLA-DQ2 gene are at very high risk of developing celiac disease. By age 5 to 6, 40% of homozygous DQ2 children have celiac autoimmunity, and approximately 25% have celiac disease.  I specifically asked Dr. Guandalini about the significance of celiac disease autoimmunity (positive celiac antibodies) v. celiac disease and I was told that it needs to be taken as seriously as celiac disease in kids, i.e. these kids need to be gluten free.
  • All of the following disorders are associated with celiac disease: gastrosophageal reflux, eosinophilic esophagitis, seziures, asthma, kidney stones, restless leg syndrome, sarcoidosis, psoriasis, vitiligo, idiopathic thrombocytopenia purpura (ITP), idiopathic dilated cardiomyopathy, hyperparathyroidism, and multiple sclerosis.
  • Based on recent studies, breastfeeding, and length of breastfeeding, do not seem to have any effect on preventing or delaying the development of celiac disease. Breastfeeding at the time of gluten introduction does not appear to make a difference either.
  • Also, based on recent research, the optimal time to introduce gluten to an infant is at about 6 months of age.  Delaying gluten introduction until after 12 months does not prevent celiac disease in children, nor does early introduction (4-6 months).
  • Children can be diagnosed with celiac disease without undergoing an endoscopy and biopsy if they all of the following: symptoms, a TTG IgA antibody level that is greater than 10x normal, and a positive EMA IgA antibody titer.  If the EMA IgA is negative, then a small bowel biopsy must be performed to confirm diagnosis.
  • There is no reliable method to detect celiac disease antibodies from stool samples.
  • Most doctors re-check TTG IgA antibodies in kids after 3-4 months on the GF diet. TTG IgA levels decrease in 75% of children after 3 months on the GF diet but it can take longer to normalize, especially if the level is sky high at the time of diagnosis.
  • Children who are newly diagnosed with celiac disease should have all of the following monitored: Vitamin D level, complete blood count, iron studies, thyroid function studies, and close monitoring of growth (weight, height, and body mass index).
  • Children with celiac disease experience rapid small bowel healing compared to adults. Almost 90% show remission after 1 year on the gluten-free diet.
  • Kids who are at risk of celiac disease but do not have symptoms should be screened at age 3 and then every 3 years (obviously sooner if symptoms develop)–I put this in bold because this is a question that I’ve had a very difficult time finding an answer to over the years.

I hope to be able to post more information that I learned at the preceptorship over the next few months. In the meantime please let me know if you have any questions or need me to clarify anything that I wrote about above.  As you know, it’s the holiday season, and we are starting to plan our cross-country move, so my mind is being pulled in a million directions right now! Thank you for understanding.

We had an entirely gluten free dinner for all preceptors and faculty on 12/4 at the Palmer House Hilton. I am in the front row in black. It was wonderful to be able to eat en entire catered meal without fear of getting sick!

We had an entirely gluten free dinner for all preceptors and faculty on 12/4 at the Palmer House Hilton. I am in the middle of the front row in black. It was wonderful to be able to eat en entire catered meal without fear of getting sick! Thank you again to the University of Chicago Celiac Disease Center for including me.

Neurogluten

Gluten-Related Neurologic Symptoms in Children

There is a well-established relationship between celiac disease (and non-celiac gluten sensitivity) and the development of neurologic problems in adults.   According to Dr. Marios Hadjivassiliou, a neurologist in the UK who is one of the world’s experts in this area, up to 50% of adults with newly diagnosed celiac disease have signs or symptoms of neurological problems. I have personally experienced a peripheral neuropathy (nerve damage) as a result of celiac disease and it was my neuropathy that prompted me to start writing about my experiences in 2012 (see link).  If you are interested in learning more about gluten-related neurologic problems in adults, I urge you to read Christine Boyd’s article “Gluten and Your Brain” in the April/May 2014 issue of Living Without Magazine. I was fortunate to be interviewed for Ms. Boyd’s story, and the article contains a wealth of information from experts, including Drs. Fasano and Hadjivassiliou.

Although there is definitely a link between gluten-related disorders and nerve and brain problems in adults, much less in known about the neurologic signs and symptoms in children with gluten sensitivity. This may be in part due to a 2008 paper in the Journal of Pediatrics that concluded that neurologic problems in children with celiac disease are rare. I have personally interacted with many parents of children with both celiac disease and non-celiac gluten sensitivity who have had their children’s neurologic and behavioral symptoms improve on the gluten-free diet.  In addition, in just the last few weeks, there have been several published case reports regarding gluten-induced neurologic problems in kids. If you are interested in learning about the case reports, I have summarized them below:

  1. The 1st case report is of a 15 year old girl with celiac disease who developed a peripheral neuropathy out of the blue that consisted of weakness and a pricking sensation in her legs.  It was discovered that she had been accidentally eating biscuits that contained gluten for about 2 months prior to the neuropathy starting.  Her neuropathic symptoms resolved when she stopped eating the non-GF biscuits (see reference #3).
  2. The 2nd case report is of a 3 year old girl who developed an acute disseminated encephalomyelitis (brain inflammation) and white matter lesions that were visible on her brain MRI. After going on the GF diet her neurological symptoms resolved and the white matter lesions stopped growing in size (see reference #4).
  3. The 3rd case report is of a 2 year old boy with epilepsy who continued to have seizures despite being on multiple seizure medications.  He did not have any digestive symptoms, outside of canker sores in his mouth, but was found to carry one of the 2 main celiac genes (HLA-DQ8).  Within 6 months of being on the GF diet, his seizures improved, his EEG became normal, and he was able to be weaned off of all his seizure medications (see reference #5).

According to Dr. Guandalini, the founder and medical director of The University of Chicago Celiac Disease Center, who wrote a recent review article about celiac disease in children, neurologic signs and symptoms of celiac disease in the pediatric population can include all of the following: cerebellar ataxia, recurring headaches, peripheral neuropathy, seizures, and psychiatric disorders, including anxiety, panic attacks, and depression.

In writing and sharing this post I am not trying to state that all neurologic problems in kids are as a result of gluten, as this is clearly not the case.  I am sharing this information in hopes that both celiac disease and non-celiac gluten sensitivity may be on both parents’ and doctors’ radars when neurologic signs and symptoms appear in kids, as well as to help prevent others from having a long delay in diagnosis like I did.

Thank you for reading and please feel free to share your personal experiences in the comments section.

References:

Hadjivassiliou, M, Sanders, D, Grubewald, R, et al.  Gluten sensitivity: from gut to brain.  The Lancet. March 2010. 9: 318-330.

Ruggieri MIncorpora GPolizzi A, et al. Low prevalence of neurologic and psychiatric manifestations in children with gluten sensitivity. J Pediatr. 2008 Feb; 152(2):244-9.

Boskovic AStankovic I. Axonal and demyelinating polyneuropathy associated with celiac disease. Indian Pediatr. 2014 Apr 8; 51(4):311-2.

Jorge RAguiar CEspinheira C, et al. A pediatric case of gluten sensitivity with severe neurological presentation. Eur J Pediatr. 2014 May 13. [Epub ahead of print]

Bruni ODosi CLuchetti A, et al. An unusual case of drug-resistant epilepsy in a child with non-celiac gluten sensitivity. Seizure. 2014 Apr 18. pii: S1059-1311(14)00106-X. doi: 10.1016/j.seizure.2014.04.005. [Epub ahead of print]

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Celiac Disease in Children (Summary of January 2014 Review Article)

Drs. Guandalini and Assiri have written a summary of pediatric celiac disease that was published in the online edition of the journal JAMA Pediatrics last week. In this post I will share some of the highlights of their review article.

Although the overall prevalence of celiac disease is 1% in the pediatric population, only 10-15% of children with celiac disease have been diagnosed and treated.

The celiac genes (HLA-DQ2 and DQ8) contribute 40% of the risk of developing celiac. Environmental risk factors for celiac disease include infant feeding patterns, early infections, gut microbiota, and the amount and timing of initial gluten exposure.

The two major autoantibodies used in the diagnosis of celiac disease include the anti-TTG IgA and antiendomysial IgA. The antibody against deamidated gliadin peptides IgG (DGP IgG) is a 3rd antibody that has been identified. The DGP IgG may be the best one to use for diagnosing celiac disease in young children (under the age of 2) as it has the highest sensitivity in this age group.

During the past few decades there has been a shift from children presenting with celiac disease having typical symptoms (gastrointestinal) to having extraintestinal (atypical) symptoms.

“Typical” symptoms include abdominal pain (most common), diarrhea, chronic constipation, weight loss, vomiting, abdominal distension, and malnutrition.

“Atypical” (extraintestinal) symptoms in children include all of the following:

  • fatigue
  • iron deficiency anemia
  • dermatitis herpetiformis
  • dental enamel defects
  • aphthous ulcers (canker sores)
  • arthritis and arthralgias (joint pains)
  • low bone mineral density, fractures of bones
  • elevated liver enzymes
  • short stature
  • delayed puberty
  • cerebellar ataxia
  • recurring headaches
  • peripheral neuropathy
  • seizures
  • psychiatric disorders, including anxiety, panic attacks, depression

Celiac disease is associated with other pediatric conditions, including type 1 diabetes mellitus, selective IgA deficiency, Down syndrome, Turner syndrome, and Williams syndrome.

Patients with celiac disease are at an increased risk of all of the following (I was not aware of many of these associations until I read this article):

  • adrenal insufficiency
  • asthma
  • IgA nephropathy
  • lupus
  • pancreatitis
  • hyperparathyroidism
  • endometriosis
  • cataracts
  • ischemic heart disease
  • dilated cardiomyopathy

Dr. Guandalini recommends that celiac diagnosis in children involve celiac antibody testing, endoscopy with small bowel biopsy, and response to the gluten free diet. He does discuss that the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition (ESPGHAN) has recently issued guidelines for diagnosis in which, in select cases, the small bowel biopsy can be omitted. Dr. Guandalini’s major concern is that if children undergoing evaluation do not have biopsies done, that other GI diagnoses that may need treatment, such as eosinophilic esophagitis, can be missed.

Celiac Disease resources that were discussed toward the end of the article include the Academy of Nutrition and Dietetics website, www.eatright.org, and an e-book created by the University of Chicago Celiac Disease Center called “Jump Start Your Gluten-Free Diet.”

In summary, this is a nicely written paper that is a great summary for pediatricians and other practitioners who need to be on the look out for celiac disease in their pediatric patients. I also thought that some of you non-medical folks might be interested as well!

Reference: Guandalini S, Assiri A. Celiac Disease: A Review. JAMA Pediatr. 2014 Jan 6. doi: 10.1001/jamapediatrics.2013.3858.

Lastly, the super cute children in the photo are my baby brothers and nieces who are now in their late teens and twenties. Since none of them read my blog, as they seem to be in denial that they have a risk of celiac disease, I had no qualms about sharing their adorable photo. Also, I became an aunt for 19th time this past week! Welcome baby Gabriel Dominic and congratulations to my sister and her family on his birth.

Thank you for reading!