Celiac Awareness Month: how to know if you have celiac disease?
According to the Celiac Disease Foundation, an estimated 1% of the population worldwide has Celiac Disorder, making it much more common than people think it is. But how to know if you have celiac disease? Signs and one DNA test.
What is Celiac Disease?
Celiac disease is a serious autoimmune disease that causes, to people affected by it, that the ingestion of gluten leads to damage in the small intestine.
Gluten is a protein that’s found in wheat, rye, barley, and the wheat-rye hybrid triticale and when people with celiac disease eat it, it triggers an immune response in their body that attacks their small intestine. This can damage the part of the small intestine that allows the body to absorb nutrients, making it difficult for a Celiac sufferer's body to properly process food.
Also, it might happen that Celiac disease is hereditary, giving people who have a first-degree relative with celiac disease a higher risk of developing the disease.
What are the symptoms of Celiac Disease?
Sometimes people with celiac disease have no symptoms at all, even though they can test positive on the celiac disease blood test. A few others may have a negative blood test, but have a positive intestinal biopsy. However, all people with celiac disease are at risk for long-term complications, whether or not they display any symptoms.
Some people with celiac disease can have symptoms soon after eating a gluten-heavy meal, while many won’t experience them for days or even weeks after having gluten.
Also it seems that typical signs and symptoms of the disease usually change over time, but the classic signs are anemia, diarrhea, and weight loss. But symptoms can be more numerous: people with Celiac disease may experience fatigue, constipation, low bone density, weight gain, bloating, fertility issues, and a foggy-headed feeling, vomiting, stomach pain.
There is no guarantee that people with Celiac disease have all the symptoms above since they can have several of those or even only one.
How to diagnose Celiac Disease
As already said, many people with celiac disease don't know they have it, but two types of test can help diagnose it, since it is important to be tested before trying any gluten-free diet (remove gluten before testing can give distorted results):
- Serology testing looks for antibodies in your blood. Elevated levels of certain antibody proteins indicate an immune reaction to gluten.
- Genetic testing for human leukocyte antigens (HLA-DQ2 and HLA-DQ8) can be used to rule out celiac disease.
After the results are given, and they are positive, doctors will likely order one of the following tests:
- Endoscopy, to view the small intestine and take a small tissue sample (biopsy) to analyze for damage to the villi.
- Capsule endoscopy, to take pictures of the entire small intestine.
After that, doctors report their diagnosis.
About Genetics and Celiac Disease
Celiac Disease is an autoimmune genetic disease that develops at any age after the ingestion of gluten that damages the small intestine. It can be inherited, if you have parents with Celiac Disease you have between 4 and 15 percent chance of developing the disorder.
It is a multifactorial disorder in which different genes and environmental factors interact to cause Celiac Disease. The genes involved in the Celiac Disease are HLA-DQA1 and HLA-DQB1, located on chromosome 6. These genes belong to the human leukocyte antigen (HLA) complex, a gene family that helps the immune system to distinguish the proteins of invaders from the body's own proteins. The proteins produced by these genes join together to form a complex which is present on the immune system cells, and if they recognize a foreign protein that complex triggers a response to attack the invaders. People with Celiac Disease have an inappropriate immune response to a gluten protein called gliadin, when it is activated it causes inflammation and the other symptoms of Celiac Disease.
Specific alleles variants of HLA-DQA1 and HLA-DQB1 genes are responsible of Celiac Disease, the HLA-DQ2 haplotype derived from HLA-DQA1 and HLA-DQ8 haplotype derived from HLA-DQB1 cause Celiac.
Advantages of getting the Whole Genome Sequencing for Celiac Disease
As said previously, one option to know if you have Celiac Disease is doing a genetic test. In this case is enough to identify variants in the genes involved in the HLA complex as HLA-DQ2 and HLA-DQ8 haplotypes.
Celiac Disease does not always correlate with a family history of pathogenicity, so is important to do the whole genome sequencing to investigate your clinical status.
If a person has some symptoms that could be associated with Celiac Disease it is important to investigate with a Genome Sequencing test to know the nature of the disturbance and to understand the severity of the pathology. In that case only the presence of both the variants is a clear representation of a Celiac Disease.
In a lot of cases people are not affected by the gastrointestinal symptoms associated with Celiac Disease, but present inflammation or abnormal levels of leukocytes in the blood, in that case only an accurate sequencing exame can explain the clinical situation associated with Celiac Disease.
It is also important for everyone to know their clinical condition because for a child with parents with Celiac Disease there is the possibility of between 4 and 15 percent of inheriting this disease.
Dante Labs for Celiac Awareness Month
Dante Labs decided to be involved in raising awareness of Celiac Disease.
Our customer care service will be available to answer your questions and will help you understand the importance of genetic tests.
Raise the awareness: we are all in this together!