SCIENTIFIC
Characteristics of Pediatric Celiac Disease in Southern West Virginia
AUTHORS : Rahiya Rehman , MD 1
Anam Bashir , MD 1 Stephanie N . Thompson , PhD 2 Pratikkumar Patel , MD , MPH , FAAP 3
1
Pediatrics , Charleston Area Medical Center / West Virginia University-Charleston Division
2
Charleston Area Medical Center , Institute for Academic Medicine
3
Pediatric Gastroenterology , Charleston Area Medical Center / West Virginia University- Charleston Division
INTRODUCTION
Celiac disease ( CD ), an autoimmune disease of the small intestine , is induced by gluten ingestion in genetically susceptible individuals . For initial diagnosis , positive serology followed by specific small bowel biopsy findings is indicative of CD . Treatment is adherence to a lifelong gluten-free diet ( GFD ). 1 , 2 CD has been described to have a prevalence of 1:70 to 1:300 in Europe and the United States . 1 Reported prevalence rates vary worldwide due to the genetic composition of the population , access to healthcare , and availability of screening tests . 1 , 2 There has been a pronounced global increase in CD incidence . 3 A study in Denmark found a two-fold increase in prevalence from 1996 to 2010 , 4 while a study in Scotland found a six-fold increase from 1990 to 2009 . 5 It is unclear whether this rise in disease frequency is due to increased awareness , increased serological testing , or a true increase in disease incidence .
ABSTRACT
PURPOSE Celiac disease ( CD ) is a disorder in which gluten ingestion triggers an autoimmune response causing inflammation and damage to the small intestine . With improved awareness and screening availability , prevalence and variation in clinical presentation have subsequently increased . Thus , our study identified the disease characteristics and presentation patterns of pediatric CD in southern West Virginia .
METHODS We retrospectively reviewed charts for pediatric patients ( age ≤18 years ) diagnosed with CD during a 10-year period at a tertiary care hospital .
RESULTS A total of 59 patients met inclusion criteria . The mean age of diagnosis was 10.0 ± 4.6 years , with 61 % of patients being female . One-third of cases were asymptomatic and diagnosed from screenings of patients with hypothyroidism or type 1 diabetes mellitus . In symptomatic
Historically , malabsorption symptoms of diarrhea , abdominal distention , and growth failure have been reported as traditional symptoms of CD . 2 , 6 , 7 Hypothesized as being related to greater disease awareness and increased screening and genetic testing , initial clinical presentation of CD may frequently deviate from stereotypical , classical presentation patterns . Instead , presentation can be comprised of vague gastrointestinal complaints of abdominal pain and vomiting as well as diverse extraintestinal symptoms , including anemia , short stature , pubertal delay , osteoporosis , dermatitis herpetiformis , and neurological symptoms . 6 , 7 CD is also increasingly being diagnosed in asymptomatic individuals , especially in those with type 1 diabetes mellitus , hypothyroidism , and a family history of CD . 6
Currently , there is little to no epidemiological data of pediatric CD in Appalachia , a region with known health disparities . 8 Our study quantified the characteristics and patterns of clinical presentation of CD in southern West Virginia ( WV ). Clinicians should be aware of the incidence and patterns of presentation variation to effectively diagnosis typical and atypical cases of CD in their community . patients ( n = 40 ), abdominal pain was the most common presenting symptom ( 78 %), followed by constipation ( 30 %). Classical symptoms of diarrhea and failure to thrive / unexplained weight loss were less common ( n = 9 ). At diagnosis , anti-tissue transglutaminase ( tTG ) IgA antibodies and deamidated gliadin peptide IgG antibodies were both positive in 88 % of cases , and endomysial antibodies were positive in 70 % cases . One-year post-diagnosis clinic follow-up rate was 63 %. A gluten-free diet improved symptoms and tTg IgA serology levels in all patients with follow-up .
CONCLUSION Our data fills in the gap of the paucity of information available about CD in children from Appalachia . A high index of suspicion is required to screen and diagnose CD as many patients are either asymptomatic or lack classical findings . A gluten-free diet is a highly effective treatment , although follow-up after initial diagnosis remains a challenge .
METHODS
An observational , descriptive study was implemented using a retrospective chart review of pediatric patients ( birth through 18 years of age ) diagnosed with CD at Charleston Area Medical Center ( CAMC )' s Women and Children ’ s Hospital and Pediatric Gastroenterology Clinic , regional referral centers servicing the southern half of WV .
Records for review were initially identified using discharge diagnosis codes for CD ( ICD-9 : 579.0 and ICD-10 : K 90.0 ) and dermatitis herpetiformis ( ICD-9 : 694.2 and ICD-10 : L13.0 ). The criteria for study inclusion was patients ≤ 18 years of age with a CD diagnosed between December 2009 and December 2019 . The diagnosis was made following one or more positive CD serology markers , including tissue transglutaminase ( tTG ) IgA antibodies
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