Celiac Disease

Do you frequently deal with diarrhea, weight loss, fatigue, bloating, abdominal gas,

nausea, or vomiting? Perhaps you deal with reduced appetite, indigestion, cramping, itching, lactose intolerance, skin rash, or weight loss. This wide range of symptoms of varying intensities could all result from one cause: celiac disease. Celiac disease is the irritation and damage of the small intestine following consumption of gluten. It currently affects 1% of the American population, a whopping total of about 3 million people. You can develop celiac at any time after you begin eating foods that contain gluten. You may be wondering: why is celiac disease such a big deal, if its symptoms are so mild? Well, the big issue is that only about 1.3% of affected individuals, or a mere 40,000 out of 3,000,000 who have the disease are actually diagnosed with it. This is the cause for the harrowing statistic that anywhere from 10%-30% of affected individuals die from the disease, which is easily manageable when diagnosed.

So, what actually causes celiac disease? While the exact cause of the disease is not

currently known, it is known that a combination of genetics/inheritance and the foods you eat could lead to it. It also tends to cluster in families, however the mode of inheritance is not known either. As with many conditions, mutations (insertions, deletions, or other alterations to the nucleotide sequence) of specific genes can increase the likelihood of someone developing celiac disease. The specific genes in this case are the HLA-DQA1 and HLA-DQB1 genes. The proteins made when these genes are expressed bind (attach) to each other to form an antigen-binding DQαβ heterodimer. This protein complex is responsible for recognizing peptides that enter the immune system. If they are foreign, it triggers a signaling cascade which in turn leads to the invasive bacteria or viruses being attacked. Mutated variants of the HLA-DQA1 and HLA-DQB1 genes may result in proteins that mistakenly recognize non-invasive peptides such as gluten to be invasive and trigger an inappropriate response, leading to damage of the small intestine. Mutated variants of these genes, along with integrated epigenetic factors (how your behavior and environment change the way your genes work) are what primarily leads to one being at risk of developing celiac disease.

An attribute of celiac disease worth noting is the ethnic groups that it predominantly

impacts. Celiac disease is most common in individuals among Americans from the Punjab region of India, such as myself. Punjabi migrants to the US are over 3 times more susceptible to celiac disease than are European migrants. The reason for this lies in epigenetics. Wheat, which contains gluten, has been a staple part of the Punjabi and North Indian diet for centuries. This statistic was discovered due to researchers noticing the prevalence of macrocytic anemia in Punjabi individuals. Macrocytic anemia is a type of anemia that results in larger blood cells than normal. By working backwards, researchers came to the conclusion that macrocytic anemia is a complication of celiac disease. In other words, celiac disease may indirectly cause macrocytic anemia, which would explain its high numbers in the Punjabi population.

While celiac disease may not be as severe or prevalent of a disease as others, it is

essential that it be taken seriously. As of right now, the exact cause is not known, there is no

“cure”, and 98.7% of cases aren’t diagnosed. All these factors make it a lot more dangerous than it may initially seem. The only solution that affected individuals have today is to completely cut gluten out of their diets. This allows the small intestine to heal and prevents further damage. As for the future, scientists are working to find the exact cause and be able to cure the disease while allowing patients to continue eating foods that contain gluten.

References:

“Celiac Disease.” Mayo Clinic, Mayo Foundation for Medical Education and Research, 10

Aug. 2021, https://www.mayoclinic.org/diseases-conditions/celiac-disease/symptoms-causes/syc-20352220.

“Celiac Disease: Medlineplus Genetics.” MedlinePlus, U.S. National Library of Medicine,

18 Aug. 2020, https://medlineplus.gov/genetics/condition/celiac-disease/#:~:text=The%20risk%20of%20developing%20celiac,leukocyte%20antigen%20(HLA)%20complex%20.

Farrukh, Affifa, and John F. Mayberry. “Punjabis and Coeliac Disease: A Wake-up Call.”

MDPI, Multidisciplinary Digital Publishing Institute, 17 June 2020, https://www.mdpi.com/2624-5647/2/2/18/htm.

Megiorni, Francesca, and Antonio Pizzuti. “HLA-DQA1 and HLA-DQB1 in Celiac

Disease Predisposition: Practical Implications of the HLA Molecular Typing - Journal of

Biomedical Science.” BioMed Central, BioMed Central, 11 Oct. 2012,

https://jbiomedsci.biomedcentral.com/articles/10.1186/1423-0127-19-88.