Celiac Disease Diagnosis And Treatment
Published on: February 13, 2025
celiac disease diagnosis and treatment
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Anjali Tulcidas

Master of Science- MSc Advanced Biomedical Sciences, <a href="https://www.dmu.ac.uk/home.aspx" rel="nofollow">De Montfort University</a>

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Raul D' Alexander Contreras Leyba

Master of Research in Cardiovascular Science in Health and Disease - MRes, Newcastle University, England

Introduction

What is Celiac Disease?

Celiac disease, also known as coeliac disease, is a disease that causes issues in your digestive system whenever you eat protein, gluten and other types of grains. It is a serious condition because it causes your immune system to attack the gluten in your small intestine and make it stop working properly. 1

Prevalence and demographics

Celiac disease affects around 1 in every 100 people in the UK and around 1% of Europe and North America populations.1,2

Pathophysiology

Genetic predisposition

Around 97% of those who are diagnosed with celiac disease have been shown to have a genetic mutation that is associated with the HLA-DQ2 or HLA-DQ8 genes.

When gliadin, which is a peptide derived from gluten, causes harm to the small intestine, it causes inflammation. This inflammation then destroys the villi in the small intestine. Due to this destruction, the small intestine starts to function poorly and malabsorption. 

When there is a decreased nutrient absorption it impacts the digestive system and the other parts of the body. This has a negative effect on your overall health.1,3,4

Symptoms and complications1,3,4

Gastrointestinal symptoms

  • Diarrhea
  • Abdominal pain 
  • Stomach bloating
  • Gas
  • Constipation 

Extraintestinal symptoms

  • Fatigue
  • Weakness
  • Anemia
  • Pale complexion
  • Brittle and concave nails
  • Mouth sores
  • Headaches
  • Skin rashes - dermatitis herpetiformis is a common type of rash that is found in 15% of those who have celiac disease

Long-term complications

  • Osteoporosis
  • Weight loss
  • Muscle wasting
  • Translucent teeth
  • Abnormal periods
  • Mood changes 
  • Infertility
  • Seizures
  • Increased risk of certain cancers

Diagnosis1,2,4,5

Initial screening

Serological tests

  • tTG-IgA - called the tissue transglutaminase IgA test and it is used to diagnose celiac disease
  • EMA-IgA - called anti-endomysium antibodies IgA test and it a highly specific test that shows celiac disease

Genetic Testing - to look for the mutation in the HLA-DQ2 and the HLA-DQ8 genes

Confirmatory tests

  •  Endoscopy with Biopsy - a small sample from your small intestine is taken to be examined under the microscope 
  •  Response to Gluten-Free Diet - changing your diet can help to know if you have celiac disease, but it is best to talk with your doctor to understand better

Differential diagnosis

  • Bacterial gastroenteritis
  • Irritable bowel syndrome (IBS)
  • Crohn's disease
  • Giardia
  • Malabsorption
  • Viral gastroenteritis

Treatment 1,5,6,7

Gluten-free diet

A common way to treat celiac disease is by excluding foods that contain gluten from your diet. You do have to stop eating all sources of gluten. Your symptoms can return if you eat foods that have gluten which can cause damage to your health. Gluten is not an essential part of your diet and it can be replaced, such as :

  • Rice
  • Quinoa
  • Corn 
  • Fruits
  • Vegetables
  • Meat and fish
  • Dairy products

Some foods you should avoid include:

  • Wheat
  • Barley 
  • Rye
  • Processed foods containing gluten additives
  • Pasta
  • Biscuits
  • Cakes
  • Pies
  • Sauces, gravies

Nutritional support

There is also additional treatment that can be taken, including:

  • Nutritional supplements
  • Treatment for dermatitis herpetiformis
  • Corticosteroids - for severe inflammation
  • Regular check-ups to control the disease 

Summary

Having celiac disease diagnosed can be life-changing, but it can also change your life for the better. Not having a proper diagnosis can create more damage to your health as you can progressively damage your small intestine, so with a diagnosis and a proper treatment plan you can live a healthier lifestyle.

References

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Anjali Tulcidas

Master of Science- MSc Advanced Biomedical Sciences, De Montfort University

My name is Anjali, and I am an aspiring medical communications professional from Portugal. I have a life-science background with a Bachelor’s degree in Biomedical science, along with experience as a Research Intern in the Fiji Islands. I pursued my Master’s in Advanced Biomedical Sciences because I was looking into enriching my understanding of different diseases and their therapeutic areas. I hope you enjoy reading this article!

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