Introduction
Coeliac disease is a chronic immune-mediated enteropathy induced by gluten exposure in genetically predisposed individuals. It is currently estimated to affect approximately 1% of the population, with an increasing incidence in recent decades. Although initially described as a childhood condition, it is increasingly being diagnosed in adults, who often present with non-specific digestive symptoms and extraintestinal manifestations.
Concept
Coeliac disease (CD) is a chronic autoimmune condition caused by gluten consumption in genetically predisposed individuals. Its prevalence varies geographically, being more common in Northern Europe (2.4% in Finland) and less frequent in Southeast Asia and sub-Saharan Africa.
Aetiopathogenesis
CD is an autoimmune disease model where the interaction between environmental and genetic factors triggers an immune response that damages the intestinal epithelium. Gluten, a protein complex present in wheat, barley and rye, is essential for the development of this disease.
Clinical manifestations
In adults, the classic presentation of malnutrition and chronic diarrhoea is becoming less common. Instead, non-specific digestive symptoms and extraintestinal manifestations, such as iron deficiency anaemia, predominate.
Diagnosis
The diagnosis of CD in adults is based on three main pillars:
1. compatible clinical manifestations
2. Evidence of enteropathy in duodenal biopsies.
3. Positive serology.
Clinical, serological and/or histological improvement after removal of gluten from the diet complements the diagnosis. Genetic testing is particularly useful for screening first-degree relatives and in cases of diagnostic discordance.
Treatment
The only effective treatment for CD is a lifelong strict gluten-free diet (GFD). This regimen leads to clinical remission in the first month, serological negativisation in 6-12 months and histological recovery in approximately two years. The GFD involves the total exclusion of wheat, barley, rye and their derivatives. Oats remain a controversial issue in this context.
Refractory Celiac Disease
Up to 20% of patients may have persistent symptoms despite following a GFD. In these cases, it is crucial to review and confirm the initial diagnosis, especially if there was discordance in diagnostic tests or if the patient was already on a GFD prior to diagnosis. The most common cause of persistent symptoms is intentional or unintentional non-compliance with the GFD (35-50%).
Non-Celiac Gluten Sensitivity
Non-celiac gluten sensitivity is characterised by the occurrence of digestive and extraintestinal symptoms similar to irritable bowel syndrome after consuming gluten. These symptoms improve with the withdrawal of gluten and reappear with its reintroduction. For diagnosis, it is essential to rule out CD and wheat allergy.
Conclusion
Coeliac disease is a complex condition with a variety of clinical presentations. Accurate diagnosis and strict adherence to a gluten-free diet are essential for the effective management of this disease. In addition, continued research and awareness of CD are crucial to improve the quality of life of patients and to advance the treatment and understanding of this condition.
BIBLIOGRAPHICAL REFERENCES:
M. Sierra, N. Hernanz, I. Gala and L. Alonso. Enfermedad celiaca, Medicine – Programa de Formación Médica Continuada Acreditado, Volume 13, Issue 1, 2020, Pages 9-15, ISSN 0304-5412, https://doi.org/10.1016/j.med.2020.01.002.
