Celiac Disease in Children Dascha C. Weir, MD Boston Children’s Hospital Harvard Medical School...

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

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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

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.


4 year old with abdominal distension. Mild constipation and rare episodic abdominal pain.


4 year old with abdominal distension. Mild constipation and rare episodic abdominal pain. Decelerated weight gain.


8 year old with slowing linear growth and weight gain deceleration.


8 year old with slowing linear growth and weight gain deceleration. Mild intermittent abdominal pain previously attributed to school anxiety.


14 year old with delayed puberty and poor weight gain. No other signs or symptoms.

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 anemia



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 anemia



Williams Syndrome





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 anemia



Williams Syndrome





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 anemia



Williams Syndrome



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

Celiac Disease in Children Dascha C. Weir, MD Boston Children’s Hospital Harvard Medical School...

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