Atypical Presentation
of Celiac Disease: A Case Report
Kumar
S.1, Sharma A.2
1Dr.
Sunil Kumar, Senior Resident, Department of Pediatrics, Kalpana Chawla
Government Medical College, Karnal, Haryana, 2Dr. Amit Sharma,
Consultant Gastroenterologist, Sanjeev Bansal Cyguns Hospital, Karnal, Haryana,
India.
Corresponding
Author: Dr. Sunil Kumar, Senior Resident,
Department of Pediatrics, Kalpana Chawla Government Medical College, Karnal,
Haryana, India. Email: drsunilx@yahoo.com
Abstract
Celiac
disease is a chronic inflammatory immune-mediated condition associated with
small intestinal injury triggered by gluten present in wheat, barley and rye,
leading to malabsorption of different nutrients. Usually it presents as young
age at the time of introduction of cereals with symptoms of malabsorption like
diarrhea, abdominal distension and failure to thrive. But celiac disease has a
broad range of general, gastrointestinal and systemic presentation. We hereby
present a case of celiac disease presenting as a case of refractory vomiting,
responding dramatically to gluten free diet.
Keywords: Celiac
disease, Gastritis, Vomiting
Author Corrected: 14th October 2018 Accepted for Publication: 17th October 2018
Introduction
Celiac
disease is an immune-mediated enteropathy triggered by the ingestion of
gluten-containing grains in genetically susceptible individuals. CD is
associated with HLA molecules DQ2 (90%–95%) and DQ8 (5%–10%) CD is one of the
most common lifelong disorders worldwide and is characterized by a variety of
clinical presentations. These include the typical malabsorption syndrome
(classic symptoms) and a spectrum of symptoms potentially affecting any organ
or body system (non-classic symptoms) [1].
Case Report
XYZ, 15 years old girl was brought
to us with complaints of fever and vomiting associated with epigastric pain for
one week, for which she was being treated at a private hospital with IV
antibiotics, Ondasterone and proton pump inhibitors. Fever relived with the treatment
but vomiting persisted. Vomiting was non-bilious, non-projectile, not blood
mixed and was not associated with significant systemic symptoms like headache
or diarrhea.
She had no significant past history
of any gastrointestinal symptoms or any chronic systemic disease and no
significant family history of any gastrointestinal or systemic disease. She did
have atopic dermatitis with dermatographism. Her general examination was
unremarkable except for reduced weight and height for age (4 and 23 percentile
as per WHO CDC data) and mild pallor. Mild epigastric tenderness was noted on
abdominal examination. Fundus and blood pressure was normal with normal
neurological examination.
Routine investigation showed
moderate anemia with blood picture suggestive of iron deficiency (Hb 8.5 gm/dl,
MCV 83.1 fL, MCH 24.0 pg, RBC Count 3.5 X106 /mm3, RDW
17.1%.). Liver enzymes were found to be mildly elevated (AST: 65 IU/L, ALT: 71
IU/L). USG abdomen was also non remarkable.
Figure-2:
Histopathological picture of the duodenal biopsy showing changes suggestive of
celiac disease viz. partial villous atrophy, hyperplasia of crypts, with
increased intraepithelial lymphocytosis (Marsh IIIa)
Provisional diagnosis of gastritis
Trial of different antiemetic (Ramosetron, Metoclopromide, Promethazine) was
given with antacids with no significant improvement in vomiting.
UGI endoscopy was planned in view
of refractory vomiting which showed markedly reduced height and number of
duodenal folds. A biopsy was taken and histopathology examination was
conducted. Histopathology was suggestive of celiac disease with partial villous
atrophy, hyperplasia of crypts, with increased intraepithelial lymphocytosis
(Marsh IIIa).Anti tTG was found to be positive.
Patient was put on gluten free diet
and responded dramatically. Symptoms were reduced drastically and within 3 days
IV medications were stopped and oral medication were stopped within 1 week.
This improvement was maintained on follow-up visits.
Discussion
Celiac disease can have a wide
spectrum of clinical presentation [2-7].
Classicallyceliacdisease presents
as gastrointestinal manifestations chronic diarrhea, abdominal distention, poor
appetite leading to impaired growth, muscle wasting and hypotonia after the introduction
of gluten in the diet in infancy i.e. 6 months- 2 years. Children can also
present dramatically as celiac crisis, presenting with explosive
waterydiarrhea, marked abdominal distension, dehydration, electrolyte
imbalance, hypotension, and lethargy. Despite a wide variabilitybetween
countries, typical CD still represents a commonpresentation in the pediatric
age group.
Celiac
disease may present withon-classic picture with delayedonset of symptoms
involving older children (5–7years old) with unusual intestinal complaints (e.g.,
recurrent abdominal pain, nausea, vomiting, bloating, and constipation) or extraintestinalmanifestations
(e.g., short stature, pubertal delay, iron deficiency, dental enamel defects).
Celiac
disease can be clinically silent also, when typical gluten-sensitive
enteropathy in absence of any clinical feature of celiac disease found on
screening of persons of at-risk groups (diabetes and first-degree relatives) or
general population in screening programs. However careful clinical
investigation finds thatmany of these silent cases are indeed affected with
alow-grade illness often associated with decreased psychophysical wellbeing.
A
potential form of CD is diagnosed in patientswho have anti-endomysium
antibodies (AEA) and/oranti-human tissue transglutaminase antibodies, the
typicalHLA-predisposing genotype (DQ2 or DQ8), but anormal or minimally
abnormal mucosal architecture (increasedintraepithelial count) at the
intestinal biopsyexamination. These patients are at risk for developing
atypical CD enteropathy later in life.
As
celiac disease can present at any age have a variety of atypical clinical
presentations like in this case, its diagnosis is likely to be missed.
Undetected celiac disease can lead to long term complications like anemia,
failure to thrive, osteoporosis, infertility, cancer and neurological
complications like ataxia and depression [8]. These complications can be
avoided by keeping a high index of suspicion in case presenting with
non-specific gastrointestinal symptom, not typical of celiac disease.
Conclusion
This
reports highlights variety of symptoms through which celiac disease can present
and need to have a high index of suspicion to avoid missing diagnosis and
dreaded long term complications of this lifelong disease.
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How to cite this article?
Kumar S, Sharma A. Atypical Presentation of Celiac Disease: A Case Report. Int J Pediatr Res.2018;5(10):487-489.
doi:10.17511/ijpr.2018.10.02.