Celiac disease is an autoimmune gastrointestinal condition that causes a variety of health issues including nutrient malabsorption and deficiencies, changes in bowel habits, anemia, bone diseases, and eczema.  It is more prevalent in females, and it usually occurs early in life.

Celiac disease is caused by an immune response to gluten in genetically sensitive individuals.  One of the main culprits is gliadin, a protein component of gluten found in wheat, barley, rye, oats, malt, spelt, triticale, semolina, and bulgur.

Celiac disease causes an immune-system mediated damage of the digestive tract.  This is carried out mostly by T-cells that become activated when sensitive individuals are exposed to gluten.  Ingestion of gluten causes the body to produce antibodies against it; the presence of antibodies causes a mucosal inflammatory response, which triggers the T-cells to come to the site of inflammation and infiltrate the intestinal mucosa.  Over time, repetitive exposure to gluten, and consequent autoimmune response, causes intestinal damage.  The duodenum is the part of the small intestine that is affected the most.  The autoimmune response causes hyperplasia of the crypts of Lieberkuhn, and atrophy of the villi and microvilli.  This greatly decreases the absorptive surface area of the lumen, causing the small intestine to lose its ability to absorb nutrients, which leads to a myriad of nutrient deficiencies and symptoms.

How Genetic Make-Up Plays A Role In Determining Who Expresses Celiac Disease

Genetics play a big role in the development of celiac disease. There is a 10-15% chance of suffering from this autoimmune condition if a first degree relative suffers from it; rates are considerably higher in identical twins.  People suffering from other autoimmune conditions (Type-1 diabetes, Sjogren’s Syndrome, juvenile chronic arthritis) have increased risk of developing celiac disease.  Among other genetic conditions that can increase risk of developing celiac disease are Down’s Syndrome, Turner Syndrome and William Syndrome.

Gastrointestinal symptoms include abdominal pain, diarrhea (chronic or recurrent), weight loss, and malabsorption.  Distention, bloating and steatorrhea can also be present. Celiac disease is accompanied in 10-15% of cases by a painful skin condition called dermatitis herpetiformis.  Dermatitis herpetiformis, also called celiac rash, causes intense pruritus and painful vesicles and papules, most often on forearms, buttocks, knees, and scalp. Other features of celiac disease include failure to thrive, osteoporosis and metabolic bone disease, anemia, idiopathic peripheral neuropathy, fatigue, headaches, infertility, dental enamel hypoplasia, and stomatitis. 

Diagnosis involves testing to serum autoantibodies while the patient is on a gluten-containing diet, and small intestine biopsy that requires 4 to 6 samples.  The biopsy looks for increased intraepithelial lymphocytes, villous atrophy, and crypt hyperplasia, all of which must be present to distinguish celiac disease from non-celiac gluten sensitivity. 

Treatments For Celiac Disease

Treatment for celiac disease is a strict celiac disease diet: all foods containing gliadin and gluten must be removed and completely avoided.  Even traces amounts can be deleterious, and, unfortunately, gluten is hidden in foods, medications, and even non-food stuff, from make-up to stamps, to play dough.  People with celiac disease need be careful when eating out, as cross-contamination is unfortunately widespread even in restaurants with gluten free menus. 

The good news is that when followed strictly, the diet reduces inflammation to the small intestine and individuals can see improvement of symptoms within 3 months.  In the presence of severe nutritional deficiencies and anemia, it is important to supplement with multi vitamins and minerals as well with targeted nutrients.  When the digestive system can’t handle vitamin pills, injections may be prescribed.  In some cases, steroid medications can be prescribed to keep inflammation under control while the small intestine regenerates.  Unfortunately, about 1 in 50 people affected by celiac disease suffer from refractory celiac disease.  People affected by refractory disease show no improvement in malabsorption and villi atrophy 6 to 12 months after strict gluten free diet.  There is currently no treatment for refractory celiac disease. 

References:

Caio G, Volta U, Sapone A, Leffler DA, De Giorgio R, Catassi C, et al. Celiac disease: a comprehensive current review. BMC Medicine. 2019 Jul 23;17(1):142.

Autoimmune Disorders [Internet]. Celiac Disease Foundation. [cited 2020 Oct 7]. Available from: https://celiac.org/about-celiac-disease/related-conditions/autoimmune-disorders/

What Are the Different Types of T Cells? [Internet]. Celiac Kids Connection. 2018 [cited 2020 Oct 7]. Available from: https://www.celiackidsconnection.org/2018/05/06/what-are-the-different-types-of-t-cells/

Reunala T. Dermatitis herpetiformis: coeliac disease of the skin. Annals of Medicine. 1998 Oct;30(5):416–8.

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