Question

Diagnosis of celiac disease

Hint:

A gluten-free diet is the primary treatment for celiac disease and helps in the restoration of villous architecture in the small intestine.

Answer 1

Step 1: Understanding celiac disease.
Celiac disease is an autoimmune disorder triggered by the ingestion of gluten in genetically predisposed individuals. It leads to inflammation and damage of the small intestine, specifically the villi, causing malabsorption of nutrients. Common symptoms include diarrhea, weight loss, bloating, and fatigue.

Step 2: Diagnosis of celiac disease.
- Serological Tests: The first step in diagnosing celiac disease is testing for elevated levels of specific antibodies. The most common tests include:
- Anti-tissue transglutaminase (tTG) IgA antibodies — high levels are indicative of celiac disease.
- Anti-endomysial antibodies (EMA) — these are also highly specific for celiac disease.
- Total IgA — to check for IgA deficiency, which can lead to false-negative results.
- Genetic Testing: The presence of the HLA-DQ2 or HLA-DQ8 gene can confirm genetic susceptibility. However, the absence of these genes makes celiac disease highly unlikely.
- Small Intestinal Biopsy: A biopsy of the small intestine is considered the gold standard for confirming the diagnosis. Histological findings typically show villous atrophy and crypt hyperplasia.
- Response to a Gluten-Free Diet: In many cases, a patient's improvement on a gluten-free diet can confirm the diagnosis of celiac disease.

Step 3: Conclusion.
Celiac disease is diagnosed through a combination of serological tests, genetic testing, and small intestinal biopsy. Early diagnosis is crucial to prevent long-term complications, including malnutrition and osteoporosis.