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Celiac Disease in Children
Dascha C. Weir, MDBoston Children’s Hospital
Harvard Medical School
Gluten Free for Life ConferenceApril 11, 2015
Disclosures
I have no relevant disclosures
Celiac Disease
Celiac Disease
ADULTS
CHILDREN
and
Celiac Disease
ADULTS
CHILDREN
Willem-KarelDicke
Celiac Disease: Roots in Pediatrics
Association of Celiac Disease and Gluten
NASPGHAN
Historical Perspective
Definition:“…a condition, seen primarily in infancy and childhood, where there exists a prolonged intermittent diarrheal state resulting in various degrees of malnutrition…that may be reversed and caused to disappear by a specific mode of treatment…the specific carbohydrate diet”
1951
“Classical” Celiac Disease
Classic Gastrointestinal Manifestations with signs/symptoms of malabsorption
Chronic or recurrent diarrheaAbdominal distensionPoor appetite
Failure to thrive or weight lossAbdominal painVomitingIrritabilityMuscle Wasting
Haas, 1951
“Classical” Celiac Disease
Positive celiac serology and biopsy confirmed celiac disease.
Celiac Disease Today
Recognized to occur in all age groups: Not just in toddlers and young children
At Boston Children’s Hospital:
The average age of diagnosis is 10.5 years
Celiac Disease Today
“Classical” presentation is no longer typical
Increasing understanding = increasing rates of diagnosis
At Boston Children’s Hospital:Average of 3 new cases diagnosed each week
020406080
100120140160180200
2003 2005 2007 2009 2011 2013
Patients per yeardiagnosed withCD by biopsy
Pediatric Celiac Disease Then
NASPGHAN
Pediatric Celiac Disease Today
ID 9047413 © Godfer | Dreamstime.com
Who Develops Celiac Disease?
Slight female predominance (65%)
Associated conditions:Autoimmune diseases-
Type 1 diabetes mellitus (5-8%) Autoimmune thyroiditis (4%)
Genetic disorders - Down syndrome (5%)Williams syndromeTurners syndrome
Family members of patients with celiac disease
“Non-Classical” PresentationAnemia / Iron deficiencyAphthous stomatitisArthritisAtaxia Behavioral ProblemsConstipationDental enamel defectsDepression Dermatitis herpetiformisEpilepsy with intracranial
calcifications
Headaches HypotoniaNeuropathyOsteopenia/osteoporosisPancreatic enzyme elevationPubertal delayRecurrent abdominal painShort statureTransaminase elevation
“Non-Classical” PresentationAnemia / Iron deficiencyAphthous stomatitisArthritisAtaxia Behavioral ProblemsConstipationDental enamel defectsDepression Dermatitis herpetiformisEpilepsy with intracranial
calcifications
Headaches HypotoniaNeuropathyOsteopenia/osteoporosisPancreatic enzyme elevationPubertal delayRecurrent abdominal painShort statureTransaminase elevation
“Non-Classical” PresentationAnemia / Iron deficiencyAphthous stomatitisArthritisAtaxia Behavioral ProblemsConstipationDental enamel defectsDepression Dermatitis herpetiformisEpilepsy with intracranial
calcifications
Headaches HypotoniaNeuropathyOsteopenia/osteoporosisPancreatic enzyme elevationPubertal delayRecurrent abdominal painShort statureTransaminase elevation
“Non-Classical” PresentationAnemia / Iron deficiencyAphthous stomatitisArthritisAtaxia Behavioral ProblemsConstipationDental enamel defectsDepression Dermatitis herpetiformisEpilepsy with intracranial
calcifications
Headaches HypotoniaNeuropathyOsteopenia/osteoporosisPancreatic enzyme elevationPubertal delayRecurrent abdominal painShort statureTransaminase elevation
“Non-Classical” PresentationAnemia / Iron deficiencyAphthous stomatitisArthritisAtaxia Behavioral ProblemsConstipationDental enamel defectsDepression Dermatitis herpetiformisEpilepsy with intracranial
calcifications
Headaches HypotoniaNeuropathyOsteopenia/osteoporosisPancreatic enzyme elevationPubertal delayRecurrent abdominal painShort statureTransaminase elevation
“Non-Classical” PresentationAnemia / Iron deficiencyAphthous stomatitisArthritisAtaxia Behavioral ProblemsConstipationDental enamel defectsDepression Dermatitis herpetiformisEpilepsy with intracranial
calcifications
Headaches HypotoniaNeuropathyOsteopenia/osteoporosisPancreatic enzyme elevationPubertal delayRecurrent abdominal painShort statureTransaminase elevation
BCH Database 2001-2015Presenting Symptoms, (n=1520)
Symptom Percent
Abdominal pain/cramps 55.4
Abdominal distension 13.5
Diarrhea/loose stools 25.1
Constipation/hard stools 31.1
Nausea/vomiting 22.8
Decreased appetite 10.1
Increased fatigue 15.1
Weight loss/poor weight gain 26.3
Short stature/poor growth 15.4
Frequent mouth ulcers 3.9
Joint symptoms 4.9
NO SYMPTOMS 7.8
Children under3 yearsusually havegastrointestinalsymptoms
Examples from BCH Celiac clinic
4 year old with abdominal distension.
Examples from BCH Celiac clinic
4 year old with abdominal distension. Mild constipation and rare episodic abdominal pain.
Examples from BCH Celiac clinic
4 year old with abdominal distension. Mild constipation and rare episodic abdominal pain. Decelerated weight gain.
Examples from BCH Celiac clinic
4 year old with abdominal distension. Mild constipation and rare episodic abdominal pain. Decelerated weight gain.
Positive celiac serology and biopsy confirmed celiac disease.
Examples from BCH Celiac clinic
8 year old with slowing linear growth and weight gain deceleration.
Examples from BCH Celiac clinic
8 year old with slowing linear growth and weight gain deceleration. Mild intermittent abdominal pain previously attributed to school anxiety.
Examples from BCH Celiac clinic
8 year old with slowing linear growth and weight gain deceleration. Mild intermittent abdominal pain previously attributed to school anxiety.
Positive celiac serology and biopsy confirmed celiac disease.
Examples from BCH Celiac clinic
14 year old with delayed puberty and poor weight gain. No other signs or symptoms.
Examples from BCH Celiac clinic
14 year old with delayed puberty and poor weight gain. No other signs or symptoms.
Positive celiac serology and biopsy confirmed celiac disease.
Pediatric Complications
Nutritional deficiencies
Stunted growth
Osteopenia
Comorbid autoimmune disease
Non- responsive celiac disease
Persistent Diarrhea + FTTPersistent GI symptoms
Short Stature/Delayed PubertyDental enamel defects
Persistent anemia
First Degree RelativeDiabetes Mellitus
ThyroiditisDown SyndromeTurner Syndrome
Williams Syndrome
Persistent Diarrhea + FTTPersistent GI symptoms
Short Stature/Delayed PubertyDental enamel defects
Persistent anemia
First Degree RelativeDiabetes Mellitus
ThyroiditisDown SyndromeTurner Syndrome
Williams Syndrome
TTG IgA and Total IgA
TTG Abnormal?Unlikely CD
Consult GIEndoscopic duodenal biopsies
Histopathology of CD?
Gluten free Diet
NO
YES
YES
Persistent Diarrhea + FTTPersistent GI symptoms
Short Stature/Delayed PubertyDental enamel defects
Persistent anemia
First Degree RelativeDiabetes Mellitus
ThyroiditisDown SyndromeTurner Syndrome
Williams Syndrome
TTG IgA and Total IgA
TTG Abnormal?Unlikely CD
Consult GIEndoscopic duodenal biopsies
Histopathology of CD?
Gluten free Diet
NO
YES
YES
Seronegative, IgA sufficient child
No further testing unless:- Less than 2 yrs of age- Predisposing diseases- Family predisposition- Severe symptoms- Restricted gluten exposure- Use of immunosuppressive medication
With symptoms AND strong clinical suspicion, small intestinal biopsies and HLA testing indicated
Consider non-celiac gluten sensitivity
Persistent Diarrhea + FTTPersistent GI symptoms
Short Stature/Delayed PubertyDental enamel defects
Persistent anemia
First Degree RelativeDiabetes Mellitus
ThyroiditisDown SyndromeTurner Syndrome
Williams Syndrome
TTG IgA and Total IgA
TTG Abnormal?Unlikely CD
Consult GIEndoscopic duodenal biopsies
Histopathology of CD?
Gluten free Diet
“Potential” CeliacReview Pathology
MonitorRepeat serology
Consider repeat biopsyGenetics ?
NO
YES
YESNO
Persistent Diarrhea + FTTPersistent GI symptoms
Short Stature/Delayed PubertyDental enamel defects
Persistent anemia
First Degree RelativeDiabetes Mellitus
ThyroiditisDown SyndromeTurner Syndrome
Williams Syndrome
TTG IgA and Total IgA
TTG Abnormal?Unlikely CD
Consult GIEndoscopic duodenal biopsies
Histopathology of CD?
Gluten free Diet
“Potential” CeliacReview Pathology
MonitorRepeat serology
Consider repeat biopsyGenetics ?
NO
YES
YESNO
Potential Celiac Disease
Potential Celiac Disease:
Individuals with a normal small intestinal mucosa who are at increased risk of developing CD as indicated by positive CD serology
Oslo Definitions for coeliac disease and related terms. Gut 2013.
Potential CD in children
210 children with potential celiac disease (at least 2 positive TTGs, positive EMA, no villous atrophy and HLA DQ2 or DQ8)
16% had autoimmune disease (T1DM or thyroiditis)
175 were asymptomatic and were kept on a gluten-containing diet
Antibodies/clinical symptoms checked every 6 monthsSmall bowel biopsies taken every 2 years
Followed for up to 9 years (at least 5 years) with a retention rate of 63% Aurricchio et al. Potential Celiac Children: 9- year Follow-up on a Gluten
containing Diet. American Journal of Gastroenterology. April 2014.
Potential CD in children
Serologic course: 43% persistently elevated 20% became negative37% with fluctuant levels Histologic course: At 3 years: 86% remained potentialAt 6 years: 73% remained potentialAt 9 years: 67% remained potential
33 % developed CD
Aurricchio et al. Potential Celiac Children: 9- year Follow-up on a Gluten containing Diet. American Journal of Gastroenterology. April 2014.
Persistent Diarrhea + FTTPersistent GI symptoms
Short Stature/Delayed PubertyDental enamel defects
Persistent anemia
First Degree RelativeDiabetes Mellitus
ThyroiditisDown SyndromeTurner Syndrome
Williams Syndrome
TTG IgA and Total IgA
TTG Abnormal?Unlikely CD
Consult GIEndoscopic duodenal biopsies
Histopathology of CD?
Gluten free Diet
“Potential” CeliacReview Pathology
MonitorRepeat serology
Consider repeat biopsyGenetics ?
NO
YES
YESNO
Persistent Diarrhea + FTTPersistent GI symptoms
Short Stature/Delayed PubertyDental enamel defects
Persistent anemia
First Degree RelativeDiabetes Mellitus
ThyroiditisDown SyndromeTurner Syndrome
Williams Syndrome
TTG IgA and Total IgA
TTG Abnormal?Unlikely CD
Consult GIEndoscopic duodenal biopsies
Histopathology of CD?
Gluten free Diet
“Potential” CeliacReview Pathology
MonitorRepeat serology
Consider repeat biopsyGenetics ?
NO
YES
YESNO
Diagnosis without biopsies?
ESPGHAN Guidelines, 2012
GFD without biopsy can be initiated if:- Signs or symptoms suggestive of CD- TTG IgA > 10 times upper limit of normal (200)- EMA positive in second blood sample
HLA testing “advisable” to reinforce the diagnosis of CD
ESPGHAN Guidelines for the Diagnosis of Coeliac Disease. JPGN. January 2012.
Persistent Diarrhea + FTTPersistent GI symptoms
Short Stature/Delayed PubertyDental enamel defects
Persistent anemia
First Degree RelativeDiabetes Mellitus
ThyroiditisDown SyndromeTurner Syndrome
Williams Syndrome
TTG IgA and Total IgA
TTG Abnormal?Unlikely CD
Gluten free Diet
NO
Active symptoms consistent with CDHighly Elevated TTG IgA (x10)
Positive EMAConsistent HLA typing
Close MonitoringGI consultation
Consider potential longterm downsides
Treatment = Gluten Free Diet
Pediatric Considerations
Team Approach
Social workPediatric specialized dietician
Medical provider
Celiac Support Group
EDUCATIONSUPPORT
Historical Wisdom
“The Picture of the disease may be the classical one…(emaciation, stunting, large abdomen, irritability and malnutrition) or so slight as to escape the notice for what it is.”
Modern Day Wisdom
Careful monitoring of growth and development of children
Close listening to our children and their parents
Recognition of the broad and varied presentations of pediatric celiac disease
Appropriate testing of at risk children
Decrease the number children with celiac who “escape our notice”
Recovery and Health
Child and Family-Centered education
Ongoing monitoring and support
Recognition of the impact of developmental
stages on success and quality of life