FacebookCeliac disease is an autoimmune disease triggered by gluten consumption. Though it was once considered somewhat rare, we now know that celiac disease affects about 2 million people in the United States and about 1% of the global population. Scientific advances have yielded a great deal of new information about the condition, but there are still some things we don’t know.
Scientists have been able to determine that every person with celiac disease has at least one of two specific genes. However, not everyone who has those genes seems to develop the condition. This begs the question, then, when can you develop celiac disease?
What Causes Celiac Disease?
Before we can understand when celiac disease develops, we must first discuss what causes celiac disease. Unfortunately, there is no easy answer to this question. That being said, research suggests that two things are required in order for someone to develop celiac disease.
First, the individual must possess certain genes. In almost every case, people with celiac disease possess at least one of two groups of normal gene variants known as DQ2 and DQ8. About 30% of people are born with one of these variants, but only 3% of people who have one will develop celiac disease. These are the two primary genetic variants that have been associated with celiac disease, but there may be others. Researchers are currently studying other possibilities.
The second factor that must be present for an individual to develop celiac disease is gluten consumption. Celiac disease is an autoimmune disease triggered by gluten consumption, so the immune system won’t respond if you’re not eating gluten. Some research suggests that among children who have a genetic predisposition for celiac disease, those who consume more gluten early in childhood may have an increased risk for developing the disease.
While these are the two primary factors that must be involved in celiac disease development, other factors may play a role. Some research suggests that a higher number of infections in early life, especially certain digestive tract infections, may increase your risk.
Risk Factors for Celiac Disease
Gluten is a protein found in wheat, barley, and rye. For the most part, it’s completely harmless but for individuals with celiac disease, it can trigger an autoimmune response that damages the lining of the small intestine. This results in poor nutrient uptake and can lead to a variety of unpleasant symptoms.
Family history is one of the biggest risk factors for celiac disease, as is true for many other autoimmune diseases. Having a first-degree relative with celiac disease makes your risk for developing the condition about 1 in 22. Having a second-degree relative with the disease makes your risk about 1 in 39.
Some research suggests that if any family member has celiac disease, about 1 in every 10 other members of the family will have it. Some estimates put that number as high as 1 in 5 family members.
Individuals who have certain other autoimmune diseases may have a higher risk for developing celiac disease. These include type 1 diabetes, autoimmune thyroid disease, and Addison’s disease. In the United States, white Americans are more likely to develop celiac disease than members of other racial groups. The disease also seems to be more common in females than males.
When Can You Develop It?
Severe cases of celiac disease in children have become fairly rare and, in fact, most people who are diagnosed with the condition are adults. Because celiac disease has a genetic component, however, we have to assume that everyone who develops the condition was born with that potential.
It’s entirely possible for someone who has the genes for celiac disease to display no autoimmune reaction to gluten for years. At any point, however, the tolerance to gluten can disappear and the individual can start developing symptoms of celiac disease. This hypothesis has been tested and supported in numerous studies.
In one recent study, participants had their blood tested for tissue transglutaminase (tTG) antibodies at two different points in time. These antibodies are biomarkers for celiac disease, so their presence in the blood would support a celiac disease diagnosis. In 49 cases, participants who initially tested negative later received positive tTGA test results.
A 2009 review published in Gastroenterology Clinics of North America explored the incidence of celiac disease diagnoses in older individuals. According to one study, the median age of diagnosis was just under the age of 50 and one-third of new patients were over 65 years of age.
For many years, medical professionals assumed that celiac disease began in childhood and simply flew under the radar for years until it eventually surfaced with symptoms. New research suggests, however, that the disease may actually lie dormant but there are still no answers as to why someone with the genes for celiac disease might suddenly stop tolerating gluten.
Dr. Alessio Fasano, MD, director of the Center for Celiac Research at Massachusetts General Hospital in Boston suggests it may have something to do with the composition of the gut microbiome. Factors like surgery, antibiotics, or stress can change the composition of intestinal bacteria. This change could trigger an autoimmune response in people who are already genetically predisposed to celiac disease.
What Are the Symptoms?
Diagnosing celiac disease can be tricky, especially when it develops unexpectedly. In fact, the Celiac Disease Center at the University of Chicago suggests 97% of Americans with celiac disease are undiagnosed. Equally troubling is the statistic that it takes an average of four years for a symptomatic person to be correctly diagnosed.
Some of the most common symptoms of celiac disease include:
- Chronic fatigue
- Bone or joint pain
- Iron-deficiency anemia
- Arthritis
- Peripheral neuropathy
- Osteoporosis
- Seizures or migraines
- Dermatitis herpetiformis
- Brain fog
Knowledge of your family history and your own medical history is crucial for identifying celiac disease symptoms when they develop. The sooner you recognize your symptoms and seek medical attention, the sooner you can obtain a diagnosis and start the recommended form of treatment.
How is Celiac Disease Diagnosed?
Celiac disease comes with an impressive list of over 200 potential symptoms and no two people are affected in exactly the same way. While children often present with digestive symptoms, adults often do not. Celiac disease is an easy diagnosis to miss, but there are a number of tools doctors can use.
Diagnosis of celiac disease typically involves the following:
- Medical and family history
- Physical exam
- Blood tests
- Biopsy of the small intestine
While celiac disease can’t be diagnosed on medical history alone, symptoms are a big piece of the puzzle. Your doctor will want to know about digestive symptoms to help rule out things like irritable bowel syndrome (IBS) as well as atypical symptoms like brain fog and joint pain. Your doctor will also want to know about your family’s medical history to evaluate your risk factors for celiac disease.
During a physical exam, your doctor will look for things like dermatitis herpetiformis, a skin rash some people with celiac disease develop. They might check your abdomen for signs of pain and swelling as well as signs of weight loss or problems with growth. In some cases, celiac disease can cause dental or oral health problems, so your doctor may look inside your mouth as well.
While medical and family histories are important in diagnosing celiac disease, a diagnosis can’t be officially made without certain tests.
The first test most doctors will conduct is a simple blood test to check for certain antibodies that tend to be present in people with undiagnosed celiac disease. If the blood test indicates a potential for celiac disease, an endoscopy can generally confirm it. An endoscopy involves passing a long tube through the mouth and down the throat into the small intestine to take a tissue sample or biopsy.
A biopsy will confirm or deny a celiac disease diagnosis based on damage to the villi lining the small intestine. Celiac disease causes shrinking or flattening of the villi which can be observed in tissue samples taken during an intestinal biopsy.
Can You Be Screened for Celiac Disease?
Screening is simply testing for diseases for which you have no symptoms. While screening is common for things like breast cancer, high blood pressure, and osteoporosis, doctors typically don’t screen for celiac disease. If you have a direct relative with the disease or an autoimmune disease that significantly increases your risk, however, you might consider talking to your doctor about it.
Though it isn’t quite the same as screening, certain genetic tests can be performed to rule out celiac disease. If you’re experiencing symptoms, your doctor could test for human leukocyte antigens (HLA-DQ2 and HLA-DQ8) to rule out a celiac disease diagnosis.
Untreated celiac disease can result in serious long-term complications including malnutrition, accelerated osteoporosis, and nervous system problems. Though these complications can be severe, they are easily avoided by following a strict gluten free diet. A gluten free diet allows the intestine to heal, and many celiac disease patients experience near total relief from symptoms.
