Celiac disease is a chronic autoimmune disease that affects the small intestine and is triggered by the consumption of gluten, a protein found in wheat, rye and barley. In people with celiac disease, the ingestion of gluten leads to an immune reaction that causes inflammation and damage to the intestinal mucosa, affecting the absorption of nutrients.
The symptoms of celiac disease can vary from chronic diarrhea, bloating and abdominal pain, to extraintestinal symptoms such as chronic fatigue, anemia, osteoporosis and skin rashes, reflecting the diversity of manifestations of this autoimmune disease.
The diagnosis of celiac disease is based on a series of tests, including serological analyzes for specific antibodies and an intestinal biopsy, which confirms the presence of atrophy of the intestinal villi characteristic of the disease. Blood tests detect anti-tissue transglutaminase (tTG) and anti-endomysium (EMA) antibodies, and the biopsy, performed through endoscopy, provides definitive confirmation of the diagnosis.
The treatment of celiac disease consists in a strict gluten-free diet throughout life, which excludes foods containing wheat, rye and barley. Nutritional supplements may be necessary to correct nutritional deficiencies, and regular monitoring by a doctor is essential to prevent long-term complications and maintain good health.
What is celiac disease?
Celiac disease is a chronic autoimmune condition in which the immune system attacks the lining of the small intestine in response to consuming gluten, a protein found in wheat, rye and barley. This immune reaction causes inflammation and destruction of the intestinal villi, essential for the absorption of nutrients, which leads to an inadequate absorption of vitamins and minerals and a series of varied symptoms, both digestive and extraintestinal.
What is gluten?
Gluten is a complex protein present in wheat, rye and barley grains, which gives elasticity to dough and helps maintain the structure of bakery products. Normally, gluten does not cause problems for most people, but for people with celiac disease, it triggers an autoimmune reaction that leads to inflammation and destruction of the intestinal lining.
How is gluten intolerance manifested?
Symptoms of gluten intolerance include bloating, diarrhea, fatigue and, in more severe cases, weight loss and nutritional deficiencies. Gluten intolerance is manifested by a varied range of symptoms, which can include chronic diarrhea, bloating, abdominal pain and weight loss. Extraintestinal symptoms may also appear, such as chronic fatigue, iron deficiency anemia, osteoporosis and skin rashes (dermatitis herpetiformis). Gluten intolerance, also known as non-celiac gluten sensitivity, differs from celiac disease in the absence of damage to the intestinal lining, but can cause similar discomfort and health problems. Analysis for gluten intolerance involves blood tests to detect specific antibodies and, in some cases, genetic tests.
What are the causes of celiac disease?
Celiac disease is caused by an autoimmune reaction to gluten, a protein present in grains such as wheat, rye and barley. Although the exact cause of the autoimmune reaction is not fully understood, it is considered that a mix of genetic, immunological and environmental factors contribute to the development of this condition. In particular, the presence of gluten in the diet triggers an abnormal immune reaction in the small intestine, which leads to inflammation and destruction of the intestinal villi, affecting the absorption of nutrients. Other possible contributors include imbalances in intestinal flora and stress. Celiac disease symptoms - can vary from abdominal pain and diarrhea to extraintestinal manifestations such as fatigue and osteoporosis. A test for celiac disease consists of the evaluation of antibodies in the blood and confirmation by intestinal biopsy.
Risk factors for celiac disease
Risk factors for celiac disease include genetic predisposition related to HLA-DQ2 and HLA-DQ8 mutations, presence of other autoimmune disorders, family history of celiac disease, and possibly early exposure to gluten.
Genetic factors, such as HLA-DQ2 and HLA-DQ8 mutations
Genetic predisposition plays a significant role in the development of celiac disease. Mutations of the HLA-DQ2 and HLA-DQ8 genes are closely associated with an increased risk of celiac disease. These genes encode proteins that are involved in the presentation of gluten to the immune system, and their presence is a determining factor in disease susceptibility. Although not everyone who has these mutations develops celiac disease, they are essential in understanding the associated genetic risk. Thus, the identification of these mutations can help assess the risk of celiac disease, especially in the case of people with a family history of autoimmune diseases.
Autoimmune disorders
Celiac disease is often associated with other autoimmune disorders, which can influence the risk of developing this condition. People with an existing autoimmune disorder have a higher risk of developing celiac disease, because the immune system is prone to develop autoimmune reactions.
Type 1 diabetes
Type 1 diabetes is an autoimmune disease in which the immune system attacks the beta cells of the pancreas, responsible for producing insulin. There is a significant correlation between type 1 diabetes and celiac disease; approximately 5-10% of people with type 1 diabetes also develop celiac disease. Both conditions can appear together due to the common predisposition towards autoimmune reactions.
Rheumatoid arthritis
Rheumatoid arthritis is another autoimmune disease associated with an increased risk of celiac disease. In rheumatoid arthritis, the immune system attacks the joints, causing inflammation and pain. People with rheumatoid arthritis may have a higher risk of developing celiac disease, because the general predisposition to autoimmunity may facilitate the occurrence of both conditions. This relationship underlines the importance of monitoring for symptoms of celiac disease among patients with rheumatoid arthritis.
Down syndrome and other chromosomal disorders
Down syndrome and other chromosomal disorders are associated with an increased risk of celiac disease. People with Down syndrome have different immune and digestive systems, which may contribute to a greater predisposition to celiac disease. Other chromosomal disorders, which affect the development and function of the immune system, may influence the risk of this autoimmune condition.
Symptoms of celiac disease
The symptoms of celiac disease include both digestive manifestations, such as chronic diarrhea and abdominal pain, as well as extraintestinal symptoms, such as chronic fatigue, anemia and skin rashes.
Digestive symptoms
Celiac disease often presents with digestive symptoms, including chronic diarrhea, bloating, abdominal pain, and unintentional weight loss. Other digestive symptoms may include constipation, nausea and vomiting, as well as fatty stools (steatorrhoea) caused by malabsorption of nutrients.
Extraintestinal symptoms
In addition to digestive symptoms, celiac disease can also cause extraintestinal symptoms, such as chronic fatigue, iron deficiency anemia, osteoporosis and skin rashes (dermatitis herpetiformis). Other manifestations include joint and bone pain, infertility or recurrent miscarriages, and problems concentrating or depression, which reflect the systemic impact of the condition on general health.
Complications of celiac disease
Complications of celiac disease can include malnutrition, osteoporosis, dermatitis herpetiformis and other serious problems, such as infertility, neuropathy and increased risk of intestinal lymphoma.
Malnutrition
Malnutrition is a frequent complication of celiac disease, due to the damage to the intestinal villi that affects the efficient absorption of essential nutrients. This can lead to severe nutritional deficiencies, including lack of vitamins and minerals, and can cause weight loss and other health problems.
Osteoporosis
Osteoporosis is another major complication, resulting from the insufficient absorption of calcium and vitamin D, essential for maintaining bone health. This can lead to decreased bone density and an increased risk of fractures and other bone-related problems.
Dermatitis herpetiformis
Dermatitis herpetiformis is an itchy and vesicular rash associated with celiac disease, which usually appears on the elbows, knees and back. It is a typical manifestation of the disease, related to the reaction of the immune system to gluten.
Other complications
Other complications of celiac disease may include infertility or recurrent miscarriages, neurological problems such as peripheral neuropathy and ataxia, and an increased risk of intestinal lymphoma. These complications emphasize the importance of proper monitoring and treatment to prevent the long-term effects of the disease.
How is the diagnosis of celiac disease established?
The diagnosis of celiac disease is established through a combination of serological tests to detect specific antibodies, intestinal biopsy to confirm villous atrophy and genetic tests to assess genetic predisposition.
Gastrointestinal microbiome testing and consultation
Diagnosing celiac disease often begins with a detailed assessment of the gastrointestinal microbiome. We are waiting for you at Quantica720° for a GI-MAP test, which can provide valuable information about the general condition of the intestinal flora and can contribute to the identification of associated problems.
We are waiting for you at Quantica720° for a GI-MAP test
Blood tests for the detection of specific antibodies
Serological tests are essential for the diagnosis of celiac disease and involve measuring the levels of specific antibodies in the blood, such as anti-tissue transglutaminase antibodies (tTG) and anti-endomysium antibodies (EMA), which are key indicators of the presence of the disease.
Biopsy of the intestinal mucosa
If the blood tests suggest celiac disease, the next step is to perform a biopsy of the intestinal mucosa through endoscopy. This procedure allows the direct examination of the intestinal villi to confirm the atrophy specific to celiac disease.
Genetic tests
Genetic tests for HLA-DQ2 and HLA-DQ8 genes can be used to rule out celiac disease in complex cases. Although the presence of these mutations is not sufficient for a diagnosis, they help to confirm or exclude the genetic predisposition to the disease.
Treatment of celiac disease
The treatment of celiac disease consists in adopting a strict gluten-free diet, supplementing nutritional deficiencies and, in severe cases, using corticosteroids and integrative therapies to manage symptoms and prevent complications.
Gluten-free diet
The main treatment for celiac disease is the adoption of a strict gluten-free diet, which involves the total avoidance of foods containing wheat, rye and barley, in order to prevent damage to the intestinal mucosa and improve symptoms.
Nutritional supplements
If celiac disease has caused nutritional deficiencies, supplements of iron, calcium, vitamin D and other essential vitamins may be necessary to restore nutritional balance and prevent complications.
Corticosteroids
In severe cases or when symptoms persist despite a gluten-free diet, corticosteroids may be used to reduce inflammation and control autoimmune reactions associated with celiac disease.
Integrative therapies
Integrative therapies can play an important role in the management of celiac disease, offering complementary solutions to improve symptoms and improve quality of life.
Medicines for the treatment of dermatitis herpetiformis
To treat dermatitis herpetiformis, a skin manifestation of celiac disease, drugs such as dapsone are used, which relieve the symptoms and skin lesions caused by this condition.
We recommend a consultation with Dr. Riccardo Annibali, specialist in diseases gastrointestinal
Diet in the case of celiac disease
Adopting a strict gluten-free diet is essential for managing celiac disease and preventing long-term complications.
Foods allowed in celiac disease
In the gluten-free diet, foods such as rice, potatoes, corn, quinoa, fruits, vegetables, unprocessed meat and dairy products are allowed, provided they are not contaminated with gluten.
Foods to avoid
It is necessary to avoid wheat, rye, barley, and all processed products that may contain hidden gluten, to prevent symptoms and damage to the intestinal mucosa.
Conclusion
Celiac disease is a complex autoimmune condition, characterized by gluten intolerance, which affects both the digestive system and other organs through extraintestinal manifestations. The precise diagnosis involves a combination of serological, genetic and intestinal biopsy tests, and the main treatment consists of a strict gluten-free diet, supplemented, if necessary, by nutritional supplements and appropriate medical therapies. Adopting and maintaining this diet, along with regular medical monitoring, are essential to prevent complications and to ensure a healthy and balanced life for people affected by this disease.
