Celiac disease is an inherited auto-immune disease that is characterized by diffused damage to the small intestinal mucosa leading to malabsorption of nutrients. The development of Celiac disease is attributed to a combination of genetic (HLA alleles) and environmental (gluten ingestion) factors. Celiac disease patients carry the gene identified as HLA DQ2 and/or HLA DQ8. Approximately 30% - 40% of the population in general carry one or both of these genes out of which about 1-5% are expected to develop Celiac disease. The incidence of disease is on the rise, and September 13 is observed as Celiac Awareness Day across the world.
The damage and the discomfort associated with Celiac disease is triggered by consumption of gluten. Gluten is a protein that is present in certain grains such as wheat, rye, barley but absent in rice, oats and corns. In a genetically susceptible host, gluten stimulates autoimmune responses wherein the body's immune system mounts an attack on its own tissues. Due to damage to the villi in the intestines, there is malabsorption of nutrients from food.
Celiac disease is not the same as gluten intolerance. Celiac disease involves autoimmune reaction to gluten and begins to target its own tissue, whereas gluten intolerance is when ingestion of gluten causes the body to have a stress response that does not involve the immune system. The symptoms of both the conditions may appear identical. However, Celiac disease has severe manifestations and may involve hives and rashes.
In case of Celiac disease, blood test shows the higher the levels of class IgA anti-tissue transglutaminase (anti-tTG) and anti-endomysial antibodies. Gluten intolerance is marked by gastrointestinal symptoms and no specific immunological mechanisms or serological markers are identified for this condition.
Celiac disease is partly a genetic condition and hence tends to run in families. Individuals with Celiac patient in their immediate family have a higher chance of developing Celiac disease. People with other autoimmune conditions like Type 1 diabetes, Thyroid disorders, Addison's disease and Autoimmune hepatitis are more likely to develop Celiac disease. People with other genetic conditions like Down's syndrome, Williams syndrome and Turner's syndrome are also at higher risk of developing Celiac disease.
Signs and symptoms of Celiac disease
Symptoms range from mild to severe manifestations and vary from adult patients to children. Celiac disease presents itself with both gastrointestinal and extra-intestinal symptoms. Abdominal pain, Type I diabetes, chronic constipation, recurrent non-bloody diarrhea, anemia, delayed puberty are some of the prominent symptoms noticed in children with Celiac disease. Intussusceptions, mouth ulcers, osteoporosis, brain fog, neurological dysfunction, unexpected weight and hair loss, nausea, bloating, anemia, inability to retain the pregnancy, migraines are the signs and symptoms identified with adult Celiac patients.
Diagnosis of Celiac disease is always a two step procedure - beginning with tTG-IgA and total serum IgA tests and conforming it with intestinal biopsy. The diagnosis is never based only on serology as anti tTG may be high in others diseases like inflammatory bowel disease and chronic liver disease. In addition, serology may be negative in patients with low IgA levels, or in children less than 2-3 years. Along with blood tests, genetic tests may also be ordered to check for the presence of the gene HLA DQ2 or HLA DQ8 in an individual. Almost all Celiac disease patients carry one of these genes. Finally the disease is confirmed by performing intestinal biopsy.
There have been recent guidelines by world renowned medical institutions that immediate family members should be screened for the disease as Celiac disease is genetic and other immediate blood relations in the family have a higher probability of developing Celiac disease than the general population. They should be screened at the time the index patient is diagnosed and thereafter, if they exhibit any symptoms, or at least annually. Early diagnosis can help prevent complications.
Treating Celiac disease
Right now, the only treatment for Celiac disease is to strictly adhere to lifelong gluten-free diet. Fruits, vegetables, dairy, fish and other seafood, beans, legumes can be safely consumed as all of these are gluten-free food groups. Grains such as rice, corn, quinoa, millet, teff, flax, chia and starchy roots like tapioca, potato are all gluten-free.
Avoiding gluten completely is not easy. Any occasional slip leads to a flare-up of symptoms instantly. Considering the fact that there are numerous cases of Celiac disease every year and the increasing numbers, there is serious research being conducted to come up with drug therapy. New drug treatments for Celiac disease are now being tested in clinical trials - some are designed to be taken alongside a gluten-free diet, whereas other set of medicines free the patient from all diet restrictions. Three main approaches have been proposed as new therapeutic modalities that include: gluten detoxification, inhibition of intestinal permeability and modulation of immune response.
Currently there are three drugs that are under clinical trails and seem to be successful in treating the condition.:
ALV003: It contains the enzymes that chop up gluten before it starts to activate the immune system.
AN-PEP: An enzyme that breaks down the residual gluten in the stomach.
Larazotide Acetate: May help inhibit immune reaction by blocking a protein that carries pieces of gluten across the gut.
However these drugs still require medical approval to be commercially available in the market.
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Bibliography / Reference
Collection of Pages - Last revised Date: September 30, 2023