What is Celiac Disease?
Celiac disease is a condition that affects the small intestine. It occurs when people who are genetically prone to the disease eat gluten. The disease is ongoing, and, at the moment, the only known treatment requires completely removing gluten from the diet.
People with celiac disease may experience symptoms such as diarrhea and difficulties with growth and development, while some people may have no noticeable symptoms at all.
What Causes Celiac Disease?
Celiac disease symptoms come from damage to the cells lining the small intestine. When the disease is in full swing, it’s characterized by ongoing inflammation and damage to the tiny, finger-like projections in the intestine, known as villi.
People with celiac disease usually carry particular genes known as HLA DQ2 or DQ8. The illness is caused by a problematic reaction of the immune system to gluten, and an important player in this is an antibody to a protein called tissue transglutaminase. But there are also other factors believed to contribute to the disease. For instance, a part of gluten, known as gliadin, can directly harm the small intestine by boosting the production of a substance called IL-15.
Some research suggests that tummy bugs in early childhood might be linked to developing celiac disease later on. This makes sense, given the disease affects the gut, but it’s also relevant to the idea that celiac disease stems from a malfunction in the immune system.
A diagnosis of celiac disease can be confirmed with the presence of certain antibodies, namely, IgA antibodies to smooth muscle endomysium and tissue transglutaminase. But, not everyone with celiac disease has these antibodies; about 5% of patients have a deficiency in this antibody.
Risk Factors and Frequency for Celiac Disease
Celiac disease affects around 0.5% to 1% of the general population. The number of diagnosed cases has grown in the last 10 to 20 years. It’s more common in people who have autoimmune disorders, such as type 1 diabetes. Also, if you have a close relative with celiac disease, your chances of having it are 1 in 10.
Signs and Symptoms of Celiac Disease
Celiac sprue, also known as celiac disease, is characterized by common symptoms such as lethargy and diarrhea. Additional digestive symptoms include bloating, discomfort or pain in the stomach, vomiting, and constipation. In children, a key sign of this disease is a failure to grow at the expected rate, whereas in adults, unexplained weight loss can be a notable symptom.
Symptoms aren’t just limited to the digestive system though. People with celiac disease may also have recurring mouth ulcers, anemia due to iron deficiency, balance problems (ataxia), chronic headaches, and delayed first periods. There’s also a higher risk of complications during pregnancy, such as premature labor, growth restriction, and stillbirth, in women with untreated celiac disease.
Another condition related to gluten intolerance is dermatitis herpetiformis, which affects the skin. Its symptoms usually improve once gluten is removed from the diet.
Other non-digestive symptoms of celiac disease can be:
- Anemia caused by poor absorption of vitamins B12, folate, or iron
- Blood clotting disorders due to impaired vitamin K absorption
- Osteoporosis
- Neurological symptoms like muscle weakness, abnormal skin sensations, seizures, and balance problems
Testing for Celiac Disease
When doctors suspect someone has celiac disease, they typically start by conducting blood tests to check for two specific antibodies. These antibodies are measured numerically using a technique called enzyme-linked immunosorbent assay or ELISA and can result as negative, weakly positive, or positive. Usually, a biopsy of the tissue in the small intestine is done next. This is considered the best way to diagnose celiac disease because it can show damage to the small villi (tiny, finger-like projections) lining the small intestine.
For these tests to work, it’s important that the patient continues to eat a diet that includes gluten. This is because if they stop eating gluten, their immune system might stop producing the antibodies that the tests are trying to detect.
In addition to these tests, doctors might also use another test that checks for specific genes. Certain genes are strongly linked to celiac disease so this can help in the diagnosis process. For instance, if someone has the symptoms of celiac disease, has positive results from the blood tests and these specific genes, then a diagnosis could be confirmed without needing to do a biopsy.
Then there are laboratory tests to check for signs of celiac disease in people with conditions associated with a high risk of celiac disease, like type 1 diabetes and down syndrome. These laboratory tests might include checking for irregular levels of electrolytes, which could reveal low calcium or potassium levels, metabolic acidosis, or a prolonged prothrombin time. Doctors might also check for anemia, which can be caused by not getting enough folate, iron, or Vitamin B12. Another sign could be greasy and strong-smelling stool.
Radiology can also play a part in diagnosing celiac disease. One technique, known as a small bowel follow-through, can show damage to the intestinal lining, abnormal widening of the bowel, and unusual clumping of a substance called barium. An upper endoscopy, which uses a flexible tube with a camera to examine the esophagus, stomach, and part of the small intestine, is often used to confirm a diagnosis of celiac disease.
Treatment Options for Celiac Disease
If you’ve been diagnosed with celiac disease, it’s important to stick to a strict gluten-free diet. This is best done with the help of professionals, such as a dietitian. Most people find their symptoms improve within a few days to weeks of starting the diet. If your symptoms don’t improve, your doctor might want to make sure you’ve really stopped eating all forms of gluten or test to make sure the celiac disease diagnosis was correct.
Your doctor may also conduct additional tests to check for any effects from your body’s inability to properly absorb nutrients, which is a result of celiac disease. These can include tests for your blood count, iron stores, levels of the nutrient folate and ferritin, vitamin D and other vitamins that dissolve in fat, and how dense your bones are.
It’s less clear how to treat patients who display common signs of celiac disease in blood tests but have normal-looking tissue samples from the small intestine. Some people may have symptoms of celiac disease even if their small intestine biopsy doesn’t show any changes. On the other hand, there’s an opposite scenario called seronegative celiac disease, where despite having classic symptoms and obvious damage in the small intestine biopsy, the blood tests don’t indicate celiac disease.
Right now, the main treatment for celiac disease is to avoid eating gluten. This can greatly improve the quality of life for those with the disease, but it can be difficult to follow this diet perfectly. Researchers are looking for other ways help people with celiac disease tolerate gluten. They’re studying things like immune system adjusters and vaccines that might alter how harmful gluten is, but none of these options are ready to be recommended as treatments.
Only a small fraction of people with celiac disease may find corticosteroids beneficial.
What else can Celiac Disease be?
When diagnosing certain gut issues, doctors have to consider a number of possible causes. These could include various infections and illnesses like:
- Bacterial gastroenteritis, which is an infection in your gut.
- Crohn’s disease, an inflammation that can occur anywhere along the digestive tract.
- Giardia, which is a tiny parasite that infects the gut, mostly due to untreated drinking water.
- Irritable bowel syndrome (IBS), a disorder that causes issues like stomach pain, bloating, and changes in bowel movements.
- Malabsorption, a condition in which the intestine cannot properly absorb nutrients from food.
- Viral gastroenteritis, often known as the stomach flu.
Understanding these diseases better can help health professionals give the right treatment and advice.
What to expect with Celiac Disease
For those who are accurately diagnosed and treated, the outlook is generally positive. However, sticking to a gluten-free diet can be challenging and it’s not uncommon for people to experience setbacks. For some, even when following a gluten-free diet or taking steroids, they may not see improvement, which could negatively affect their quality of life.
Possible Complications When Diagnosed with Celiac Disease
Over time, there’s a potential risk of developing lymphomas and small bowel cancers in the small intestine. Pregnant women might experience miscarriage or their baby may be born with birth defects. Similarly, children might experience slow growth or fail to grow at all.
Not being able to absorb nutrients properly can lead to several health issues such as:
- Osteopenia (lower than usual bone density)
- Bleeding disorders
- Stunted growth
- Anemia
- Reduced physical endurance
- Seizures
Recovery from Celiac Disease
Once doctors determine that a patient has celiac disease, it’s important for the patient to have regular check-ups. These visits ensure that the patient is maintaining a diet free of gluten, and that they’re not experiencing any new issues related to their condition.
Preventing Celiac Disease
The patient should continue to strictly follow a diet free of gluten.
