The Celiac Disease Extended Profile includes the measuring of total IgA as well as specific antibodies against certain proteins. In addition, molecular testing for the HLA-DQA1 and HLA-DQB1 genes, the absence of which definitively rules out a celiac disease diagnosis. Celiac disease, also known as gluten enteropathy, is a chronic autoimmune disease that affects people with a specific genetic background and can affect many members of the same family. Celiac disease is a pathological condition for which there is no cure, but it is manageable once diagnosed.
Celiac disease is one of the three different gluten-related disorders. The other two are Wheat Allergy and Gluten Intolerance or Sensitivity.
What is Celiac disease?
Celiac disease is an autoimmune condition associated with chronic inflammation of the small intestine that can lead to poor nutrient absorption. The disease occurs when dietary proteins, known as glutens, found in wheat, barley, and rye, trigger an abnormal mucosal immune response. It is estimated that celiac disease worldwide affects about 1 in 100.
Celiac disease can occur in a wide range of clinical manifestations, both from the gastrointestinal system and outside the gastrointestinal tract. Most patients may present with typical symptoms, but some of them have little or no symptoms at all.
Patients with autoimmune diseases, such as type 1 diabetes and autoimmune thyroiditis or people with a family history of celiac disease, have an increased chance of developing celiac disease.
Symptoms of celiac disease
More than 200 different celiac disease-related symptoms have been described and the very large number of them are the reason that celiac disease is very difficult to diagnose based solely on the clinical picture. In addition, many patients with celiac disease may have no symptoms at all, while maintaining the likelihood of complications due to celiac disease.
In adults the most common symptoms and clinical findings are:
- Diarrhea
- Anemia, usually due to a lack of iron
- Fatigue
- Pain in the joints and bones, arthritis
- Osteoporosis or osteopenia
- Damage to the liver and bile ducts (increased transaminases, fatty liver, etc.)
- Nervous system disorders, such as numbness and itching in the feet and hands as well as balance problems
- Headaches, depression, or anxiety
- Unexplained infertility or miscarriages
- Dermatitis herpetiformis (itching, blistering skin rash)
In children with celiac disease the most common symptoms and clinical findings are:
- Abdominal bloating and pain
- Chronic diarrhea
- Vomiting
- Constipation
- Feces are pale, smelly, or greasy
- Weight loss
- Fatigue
- Problems with permanent tooth enamel (caries)
- Delay in development and puberty
- Short stature
- Irritability and behavior problems
- Attention Deficit Hyperactivity Disorder (ADHD)
Who should be screened for Celiac disease?
Celiac disease is a lifelong autoimmune disorder that affects many parts of the body and can lead to other more serious conditions. The following people should check for celiac disease:
- Children over 3 years of age and adults experiencing celiac disease symptoms
- First-degree relatives of people with celiac disease: i.e., parents, siblings, and children. First-degree relatives have a 1 in 10 chance of developing celiac disease, compared with 1 in 100 for the general population
- Anyone with an autoimmune disorder, especially type 1 diabetes, autoimmune thyroiditis, autoimmune hepatitis as well as people with Down syndrome, Turner syndrome, Williams syndrome, and selective immunoglobulin A deficiency (IgA)
