Understanding Celiac Disease From Genetics to the Future Diagnostic Strategies

Area of Science:

• Gastroenterology and Immunology

Background:

• Celiac disease (CD) is a prevalent autoimmune disorder affecting 1% of the global population.
• It involves permanent small bowel inflammation triggered by gluten ingestion, often presenting with gastrointestinal symptoms.
• Diagnosis is complicated by diverse clinical manifestations and frequent asymptomatic cases.

Purpose of the Study:

• To provide a comprehensive review of celiac disease.
• To explore its basic concepts, manifestations, types, and associated disorders.
• To discuss current and emerging diagnostic methods, including molecular markers, and briefly touch upon genetics and treatment.

Main Methods:

• This is a review article, synthesizing existing knowledge on celiac disease.
• It covers basic science, clinical aspects, diagnostics, and genetics.
• Information is compiled from relevant scientific literature.

Main Results:

• Celiac disease is a multifactorial autoimmune disorder with genetic predisposition (HLA-DQ2/DQ8).
• Diagnostic challenges stem from varied presentations and asymptomatic cases.
• Molecular markers are under investigation as potential diagnostic tools.

Conclusions:

• Accurate and timely diagnosis of celiac disease remains a significant clinical challenge.
• Advancements in understanding CD genetics and molecular markers offer future diagnostic improvements.
• Further research is needed to refine diagnostic strategies and therapeutic approaches for celiac disease.