What is Celiac Disease?
Written By: Kelsey Chadwick, MS RDN LDN
Celiac disease is a serious autoimmune disease. An autoimmune disease is a disorder in which the body’s own immune system attacks and damages its own tissues. There are currently over 100 autoimmune diseases. It’s estimated that around 50 million people in the U.S. have an autoimmune disease. Autoimmune awareness month is observed every March to spread awareness of autoimmune diseases. Autoimmune Association is a great resource for information.
Celiac disease is also known as coeliac disease, celiac sprue, non-tropical sprue, and gluten sensitive enteropathy. Celiac disease can occur at any age in genetically susceptible people. The ingestion of gluten leads to damage in the small intestine. The ingestion of gluten (a protein found in wheat, barley and rye) causes immune-mediated damage to small intestinal mucosa (inner lining). This causes damage to villi, small fingerlike projections that promote nutrient absorption. When villi become damaged, nutrients cannot be properly absorbed, often leading to nutrient deficiencies.
Celiac disease is a multi system disorder and there are currently over 250 known symptoms of celiac disease. Celiac does not only affect the digestive system but many other parts of the body such as skin and bones. Some people with celiac disease have no symptoms at all, however there is still damage to the villi. In other cases, some people may have a negative blood test and a positive intestinal biopsy. No matter what symptoms you experience or even if you don’t have symptoms people with celiac disease are at risk for long-term complications if celiac disease goes undiagnosed.
Celiac disease often occurs more frequently with other disorders including other autoimmune disorders such as type 1 diabetes, autoimmune thyroid or liver disease and Sjogren syndrome. Other conditions include Turner syndrome, William syndrome, down syndrome and selective IgA deficiency. Unfortunately, the link between celiac and other autoimmune disorders is not entirely understood. Anyone with any of these conditions + celiac related symptoms should be screened for celiac disease.
Most Common Symptoms in Infants & Children
Abdominal bloating and pain
Anxiety and depression
Attention-deficit/hyperactivity disorder (ADHD) and learning disabilities
Chronic diarrhea
Constipation
Damage to tooth enamel
Delayed puberty
Failure to thrive
Fatigue
Gas
Headaches
Iron-deficiency anemia
Irritability
Nausea and vomiting
Pale, foul-smelling stools
Seizures and lack of muscle coordination
Short stature
Weight loss
Most Common Symptoms in Adults
Abdominal pain
Bloating and gas
Cognitive impairment
Constipation
Diarrhea
Depression and anxiety
Fatigue
Headaches or migraines
Iron-deficiency anemia
Itchy, blistery skin rash (dermatitis herpetiformis)
Joint pain
Missed periods
Mouth ulcers and canker sores
Nausea and vomiting
Osteoporosis and osteomalacia
Peripheral neuropathy
Reduced functioning of the spleen (hyposplenism)
Weight loss
Undiagnosed or Untreated Celiac Disease Can Lead to:
Early onset osteoporosis or osteopenia
Gall bladder malfunction
Heart disease
Infertility & miscarriage
Iron deficiency anemia
Lactose intolerance
Liver failure
Malnutrition
Small intestine cancer and non-Hodgkin lymphoma
Neurological symptoms, including attention-deficit/hyperactivity disorder (ADHD), headaches, lack of muscle coordination, seizures, ataxia, dementia, neuropathy, myopathy & multifocal leucoencephalopathy
Pancreatic insufficiency
Vitamin & mineral deficiencies
Diagnosis
Typically, the first step in testing is a blood test. Anyone with celiac disease will have a higher level of specific antibodies in their blood that are produced by the immune system. You must be on a gluten-containing diet for antibody (blood) testing to be accurate. The primary test done is tTG-IgA test or Tissue Transglutaminase IgA. It will be positive in about 93% of people with celiac disease who are on a gluten containing diet. For Children 2 years old and under, Deamidated Gliadin IgA and IgG antibodies should also be tested. For anyone with autoimmune disorders like type 1 diabetes, autoimmune liver disease, Hashimoto’s thyroiditis, psoriatic or rheumatoid arthritis, and heart failure, there is a chance for a false positive. In this case, there are other antibody tests available to rule out a false positive or false negative. An intestinal biopsy is the only way to officially diagnose celiac disease. The only exception is anyone with DH (dermatitis herpetiformis). Unfortunately, it is currently estimated that 80% of the celiac disease population remains undiagnosed due to the number of ways celiac disease can affect patients in addition to a lack of training in medical schools and primary care residency programs.
If antibody tests indicate celiac disease, patients should then undergo a biopsy of the small intestine. This will show any damage to the villi, indicating celiac disease. An endoscopy is considered the “gold-standard” for celiac disease diagnosis. Some research suggests that a follow up endoscopy and biopsy may still be needed to confirm or rule out celiac disease even if antibody levels are not elevated when other notable risk factors are present.
There are actually three different “types” of celiac disease. I don’t really like the word “types,” because celiac disease is celiac disease, but this is a way to express that celiac disease presents differently for everyone. They are all equally serious and the difference in types of celiac are the symptoms one experiences. The three types are classical, non-classical and silent celiac disease. All types are an autoimmune response and cause damage to the villi. It is important to note that treatment is the same (a 100% gluten-free diet), regardless of having classical, non-classical or silent celiac disease.
Classical Celiac Disease
Patients show signs and symptoms of malabsorption, such as diarrhea, steatorrhea (pale, foul-smelling fatty stools) and weight loss or growth failure in children
Non-Classical Celiac Disease
Patients may have mild gastrointestinal symptoms without clear signs of malabsorption
Patients may experience abdominal distention and pain
Additional symptoms patients may experience include: chronic fatigue, chronic migraines, iron-deficiency anemia, unexplained elevated liver enzymes, tingling, numbness or pain in hands and feet, reduced bone mass and bone fractures, late menarche, early menopause, unexplained infertility, dental enamel defects, depression, anxiety and dermatitis herpetiformis (itchy skin rash)
Silent Celiac Disease
AKA asymptomatic celiac disease
Patients experience villous atrophy damage to their small intestine, but do not experience symptoms
Most patients do feel better after going on a strict GF diet, including a reduction in acid reflux, bloating and flatulence, despite not experiencing symptoms
SourceTreatment
Currently, the only treatment for celiac disease is a life long, strict gluten-free diet. Beginning a strict gluten-free diet will begin healing the villous atrophy in the small intestine and improve symptoms. It is important to note that treatment is the same (a strict gluten-free diet), regardless of having classical, non-classical or silent celiac disease. Classical, non-classical and silent celiac disease are all serious and all have villous atrophy to the small intestine. The time it takes the body to heal is different for everyone. Most people do begin to notice a difference in overall symptoms and how they feel in the first few weeks of beginning a GF diet. Work with a Registered Dietitian and your PCP to correct nutrient deficiencies and make sure you are getting enough fiber and other important nutrients that gluten-free food often lacks.
Common Questions About Celiac Disease
What about family members?
First-degree relatives have a 1 in 10 chance of developing celiac disease and should be screened. According to the Celiac Disease Foundation “First-degree family members (parents, siblings, children), who have the same genotype as the family member with celiac disease, have up to a 40% risk of developing celiac disease. The overall risk of developing celiac diseases when the genotype is unknown is 7% to 20%.”Celiac can develop at any age and second-degree relatives also have an increased risk of developing celiac disease. Testing usually includes a “celiac panel,” but other testing may be done to determine if they have “the gene” (HLA-DQ2/DQ8) which would indicate if there is a chance they would develop celiac at a point in their life. The Celiac Disease Foundation recommends testing gene-positive first-degree relatives every 3-5 years, or immediately if symptoms develop.
What percent of the population has celiac disease?
Celiac disease is one of the most common inherited diseases. The global prevalence of celiac disease is ~ 1%. Finland and Sweden have a higher rate at 2-3%.
SourceAre there certain populations that are more likely to develop celiac disease?
Celiac disease is common in people of European and North American ancestry. Celiac disease is also common in populations in India, Pakistan, South America, North Africa and the Middle East.
“The prevalence of CD is approximately 0.5%-1% in all parts of the world, except for populations with very low and very high intake of gluten in their diet”
SourceCan I outgrow celiac disease?
No, outgrowing celiac disease is not possible. It is lifelong condition that must be managed with a 100% gluten-free diet. Research continues on, to find a cure for celiac disease.
What triggers celiac disease?
A combination of genetic, environmental and immunological factors lead to the development of celiac disease at any age. These factors can include a viral infection, severe emotional stress, pregnancy or childbirth or surgery. Research is being conducted on the role that other factors may include such as: method of birth, breastfeeding, age of gluten introduction and the changes in the bacterial composition of the gut.
Source: NIHWhat are villi?
“Tiny hair-like projections that line the inside of the small intestine. They contain blood vessels and help absorb nutrients.”
Source: NIHWhat is villous atrophy?
Villous atrophy is when the tiny finger-like projections (villi) in the small intestine become inflamed and damaged. Villous atrophy is also seen in various other conditions such as autoimmune enteropathy and Crohn’s disease. This leads to inadequate nutrient absorption, especially iron, calcium, vitamin D and folic acid.
Source: BIDMCDoes eating gluten in childhood influence celiac disease?
Currently, there is no definitive research that can properly conclude this.
Can celiac disease cause skin problems?
Yes, dermatitis herpetiformis is a skin condition that some people with celiac may experience.
Does the quality of our food, specifically wheat play a role in the increase in celiac disease diagnoses?
“In addition, the quality of gluten itself might also play a contributory role. Indeed, the production of new grain variants due to technological rather than nutritional reasons may have influenced the observed increase in the number of CD diagnoses in re- cent years [4, 5]. However, these hypotheses have not been confirmed and the real cause of the risk in CD diagnoses remains unknown. Furthermore, the epi- demiological observation that similar ‘epidemics’ are re- ported for other autoimmune diseases in the Western hemisphere [6] suggests that environmental factors other than gluten can be at play.”
SourceCan celiac disease be prevented?
Some studies have suggested that breastfeeding, modality of delivery, and time of gluten introduction in the diet of infants may affect the incidence of celiac disease. However, this data is limited and has been criticized by alternative studies.
SourceWhat is the global prevalence of celiac disease?
1%, although this does not represent the actual number of people with celiac disease because the majority of people are undiagnosed.
SourceIf you’d like personalized support beyond general advice, I offer virtual celiac nutrition counseling.
You can learn more about the different services I offer here.
Meet the Author
Kelsey is a Registered and Licensed dietitian in the Greater Boston Area. Kelsey was diagnosed with celiac disease in 2011 which led her to become a Registered Dietitian with a goal of helping others navigate the crazy nutrition world. When she’s not seeing clients or writing blog posts, you will probably find her hanging out with her family or traveling to a new destination!
