5 min|Dr. Maya Kuczma

Autoimmune Disease 101: Celiac Disease

Education, Autoimmune Disease

Know the Numbers

Roughly 1 in 114 Canadians are affected by celiac disease (1)
It is suspected that up to 90% of people with celiac disease remain undiagnosed (2)
Of surveyed Canadians diagnosed with celiac disease, 27% had to consult with 3 or more doctors before receiving a diagnosis (3)

What is Celiac Disease?

Celiac disease is an autoimmune condition, also known as celiac sprue, gluten sensitive enteropathy, and nontropical sprue. Celiac disease mainly affects the duodenum and proximal jejunum of the small intestine. Like many autoimmune conditions, it requires a genetic predisposition, as well as an environmental trigger; in the case of celiac disease, the environmental trigger is gluten, a protein found in a variety of grains, such as wheat, barley, spelt, rye, and triticale. It is suspected that genetically-susceptible individuals require one or more additional triggers to activate the pathophysiology of celiac disease; duration of breastfeeding, viral infections, environmental toxins, and other factors influencing the intestinal microbiome are all thought to play a role. (4)

In patients with celiac disease, when gluten enters the digestive tract it activates a complex immune response that leads to inflammation and damage to the lining of the small intestine. Enterocytes, the cells that line the small intestine are organized into villi, fingerlike projections that increase the surface area of the gut lining, enhancing nutrient absorption. The inflammatory reaction characteristic of celiac disease destroys these enterocytes, flattening the villi, decreasing available surface area for nutrient absorption. Specifically, this leads to reduced absorption of iron, calcium, vitamins A, D, E, K, and folate, and increases the risk of developing anemia and osteoporosis.

Additionally, the small intestinal reaction to gluten that occurs with celiac disease leads to proliferation of immune cells known as intraepithelial lymphocytes; this can lead to an increased risk of intestinal T-cell lymphoma. (4) Celiac disease has also been linked to an increased risk of Non-Hodgkin's lymphoma. (5)

What are the signs and symptoms of celiac disease?

The symptoms of celiac disease can vary greatly from one person to the next. There are over 300 symptoms associated with celiac disease; (6) some people will experience one, whereas others may experience many. The most common signs and symptoms include: (1,6)

Bloating and gas
Constipation, diarrhea, or bouts of both
Headaches and/or migraines
Fatigue
Depression
Anxiety
Infertility
Dermatitis herpetiformis (a skin rash of raised, itchy lesions and blisters)
Joint pain
Canker sores or mouth ulcers
Tingling/numbness
Delayed growth (‘failure to thrive’) and/or delayed puberty in children
Deficiencies of iron, B12, and/or folate
Dental enamel defects

Historically, celiac disease was misunderstood, and clinicians often inaccurately believed it presented only during childhood, or was always associated with the classic symptoms of diarrhea, failure to thrive, and a distended abdomen. We now know gut health is deeply connected to overall health; when the gut is disturbed, as with celiac disease, many other areas of the body can be affected, leading to widespread - and at times vague - symptoms. Celiac disease can be a clinical chameleon, developing at any point within a lifespan, and requires consideration more often than not in an effort to improve diagnosis and reduce diagnostic error.

Evaluating for Celiac Disease

There are markers that can be measured to screen for celiac disease:

Blood Test - Tissue Transglutaminase Antibodies:
- Anti-TTG IgA
- Anti-TTG IgG: a helpful additional test in patients with suspected IgA deficiency

Blood Test - Deamidated Gliadin Antibodies: should be included when testing children and those with IgA deficiency (7)
- Anti-DGP IgA
- Anti-DGP IgG

Blood or Saliva Test - Genetic testing of HLA-DQ2, HLA-DQ8

Anti-TTG IgA, Anti-TTG IgG, anti-DGP IgA, anti-DGP IgG are considered accurate only if a patient has been eating gluten; if they have already begun a gluten-free diet, antibody levels may appear low, falsely indicating that they do not have celiac disease.

Gluten ingestion is not required for genetic testing. However, the presence of the genetic markers HLA-DQ2 and HLA-DQ8 alone are not diagnostic of celiac disease since roughly 55% of the non celiac population carries at least one copy of these genes. (8) Negative tests for both HLA-DQ2 and HLA-DQ8 make a diagnosis of celiac disease highly unlikely.

If any of the markers are elevated, your Doctor may suspect celiac disease. However, an intestinal biopsy is the only way to definitely confirm a celiac disease diagnosis. A pathologist will analyze multiple samples and will assign a Modified Marsh Type, a classification system used to describe stages of damage. Type 3 classification is indicative of celiac disease; however, type 1 and 2 may also indicate celiac disease. Type 0 indicates the intestinal lining is normal and celiac disease is highly unlikely. (9) The patient must consume gluten leading up to the biopsy for the results to be considered accurate.

Who Should be Tested?

Anyone experiencing one or many of the signs and symptoms listed above
First-degree relative (parents, siblings, children) of a person with celiac disease
Anyone already diagnosed with one autoimmune condition, such as Type 1 diabetes, thyroid disease, and multiple sclerosis, due to increased risk of developing additional autoimmune conditions (10)
Anyone with Down syndrome, due to higher risk of celiac disease (11)
Women with unexplained infertility, stillbirths, and/or miscarriages (12; 13)
Men with unexplained infertility (12)

Keep an eye on the blog for part II of this series, where we will discuss treatment options for celiac disease!

---------------------------------------------------------------------------------------------------

Do you have signs or symptoms associated with Celiac disease? Are you interested in the celiac disease blood work panel?

Have you already eliminated gluten, and are wondering if there’s more you could be doing to support your body or to further investigate celiac disease?

At Integrative, we’re here to help. Contact our Reception - (604) 738-1012 - or [email protected] - to take a step towards better health and vitality!

Click here to book an appointment with an Integrative Naturopathic Doctor.