Celiac Disease

Himali Meshram
Clinical Associate, Pediatric Gastroenterology and Hepatology Department,
B J Wadia Hospital for Children, Mumbai, India.

First Created: 09/04/2018  Last Updated: 09/04/2018


Celiac Disease (CD) is an immune-mediated disease caused by exposure to gluten and related prolamines. It occurs in individuals who are genetically predisposed. It leads to diarrhea and malabsorption of most nutrients and vitamins. Patients can also present with anemia and short stature.


Celiac disease occurs in genetically predisposed individuals on exposure to gluten due to immunologically based inflammation that leads to intestinal maldigestion. It is strongly associated with the HLA phenotypes DQ8, DR3, and DQ2. The most important environmental factor in celiac disease is gluten found in wheat, barley, rye, oats. The inflammatory

the response consists of increased numbers of lymphocytes, plasma cells, and macrophages in the lamina propria and increased numbers of lymphocytes in the surface layer of the epithelium of the intestines.

Signs and Symptoms

Children usually present with loss of appetite, loss of weight, flatulence and abdominal pain, diarrhea, vomiting, and short stature. There may be steatorrhea and iron deficiency anemia due to malabsorption. There may affection for intellectual development. Vitamin B12 malabsorption can lead to peripheral neuropathy. Patients can have bone pains due to osteoporosis and osteopenia due to vitamin D and calcium deficiency, muscle cramps due to magnesium and calcium deficiency. Some patients may have associated thyroid disease or diabetes mellitus.


  • Positive anti-TTG (transglutaminase) or anti-EMA (endomysial antibody) in blood
  • HLA Testing for HLA-DQ2 and HLA-DQ8-Typing
  • Histological Analysis of Duodenal Biopsies

Biopsies should be taken preferably during upper endoscopy from the bulb (at least 1 biopsy) and from the second or third portion of duodenum (at least 4 biopsies).

Modified Marsh classification:

Histological analysis of the duodenal biopsies is done and categorized into 3 types based. Any type of 3 indicates symptomatic celiac disease. However, types 1 and 2 may also indicate celiac disease.

Table : Modified Marsh Classification

IEL <40 >40 >40 >40 >40 >40
CRYPTS Normal Normal Hypertrophic Hypertrophic Hypertrophic Hypertrophic
VILLI Normal Normal Normal Mild atrophy Marked atrophy Absent

IEL: intraepithelial lymphocytes/100 epithelial cells.


Once the celiac disease has been diagnosed, physicians should explain to patients the lifelong nature of the condition and the necessity to adhere to a gluten-free diet. Gluten-free diets result in prompt and often dramatic improvements in symptoms. Resolution of symptoms may take 3–6 months but complete healing of the intestine may take longer.

Refractory Celiac Disease

The patients continue to have diarrhea and malabsorption despite consumption of a gluten-free diet for >6 months and on duodenal histology continues to have villous atrophy. Parenteral nutritional support allows correction of the nutritional problems and antibiotics and pancreatic enzyme supplements have been used with occasional success.

Celiac Disease Celiac Disease https://www.pediatriconcall.com/show_article/default.aspx?main_cat=pediatric-gi-and-hepatology&sub_cat=celiac-disease&url=celiac-disease-introduction 2018-09-04
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