Coeliac (Celiac) Disease - Overview (signs and symptoms, pathophysiology, diagnosis, treatment)

Summary

This video provides an in-depth overview of celiac disease, an autoimmune disorder triggered by gluten, particularly the protein gliadin. It explores the clinical symptoms, such as abdominal pain, diarrhea, and weight loss, and highlights the importance of diagnostic tests like blood work, antibody screening, and biopsy. The pathophysiology of celiac disease is explained, detailing how gluten exposure leads to immune system activation, intestinal damage, and malabsorption of nutrients. Treatment primarily involves a strict gluten-free diet, with additional care for complications like anemia and osteoporosis. The video also touches on differential diagnoses and the potential life-threatening risks associated with celiac disease.

Takeaways

• 😀 Celiac disease is an inflammatory condition triggered by the ingestion of gluten, specifically the protein gliadin found in wheat.
• 😀 Common symptoms include abdominal pain, bloating, diarrhea, fatty stools (storia), anemia, and weight loss, especially in children.
• 😀 Some individuals with celiac disease can present with no symptoms, making it hard to diagnose in about one-third of cases.
• 😀 Key signs of celiac disease include anemia, apthous ulcers, atrophic gastritis, anorexia, and dermatitis herpetiformis (chronic blistering skin rash).
• 😀 Diagnosis involves blood tests (for anemia and antibodies), liver function tests, endoscopy, and biopsy to observe changes in the small intestine's architecture.
• 😀 The gold standard for diagnosis is an endoscopic biopsy, where gluten must be consumed prior to the procedure for accurate results.
• 😀 Celiac disease is characterized by villous atrophy, crypt hyperplasia, increased lymphocytes, and damaged microvilli in the small intestine.
• 😀 Management primarily consists of a strict gluten-free diet, with possible supplementation of iron, calcium, and other vitamins during periods of malabsorption.
• 😀 Celiac crisis is a life-threatening complication that requires urgent treatment, including rehydration and corticosteroids to manage inflammation and electrolyte imbalance.
• 😀 Risk factors for celiac disease include a family history, autoimmune thyroid disease, type 1 diabetes, IGA deficiency, and inflammatory bowel disease.
• 😀 The immune response in celiac disease involves the activation of T-cells and B-cells that generate antibodies against gliadin, which triggers inflammation and intestinal damage.

Q & A

What is celiac disease?

Celiac disease is an inflammatory condition that occurs in genetically predisposed individuals in response to the ingestion of gluten, specifically the protein gliadin. It leads to inflammation and damage in the small intestine.

What are the common symptoms of celiac disease?

Common symptoms of celiac disease include abdominal pain, bloating, diarrhea, stinky stool (steatorrhea), anemia, weight loss, and failure to thrive, particularly in children. However, some individuals may present without symptoms.

What is steatorrhea, and how is it related to celiac disease?

Steatorrhea is the term for fatty stools, which occur when lipids or fats are not properly absorbed due to damage in the small intestine. This condition is common in celiac disease due to malabsorption.

How does celiac disease affect the absorption of nutrients?

In celiac disease, the inflammation in the small intestine damages the villi and microvilli, which are responsible for nutrient absorption. This damage leads to malabsorption of essential nutrients like iron, vitamin B12, proteins, and fats.

What investigations are used to diagnose celiac disease?

Diagnosis of celiac disease involves several tests, including a full blood count (for anemia), liver function tests (LFTs), electrolyte and creatinine checks, and serological tests for antibodies like anti-tissue transglutaminase (tTG), anti-endomysium, and anti-gliadin antibodies. An endoscopy with a biopsy of the small intestine is the gold standard for confirming the diagnosis.

What is the role of biopsy in diagnosing celiac disease?

A biopsy of the small intestine taken during an endoscopy is critical for diagnosing celiac disease. The biopsy checks for structural changes like villus atrophy, crypt hyperplasia, and an increase in lymphocytes, which are indicative of active celiac disease.

What is dermatitis herpetiformis, and how is it related to celiac disease?

Dermatitis herpetiformis, also known as Duhring's disease, is a chronic blistering skin condition that can be a sign of celiac disease. It presents as an itchy rash, often found on the elbows, knees, and other extensor surfaces, and is associated with gluten intolerance.

What is a celiac crisis, and how is it treated?

A celiac crisis is a life-threatening condition that can occur during severe exacerbations of celiac disease. It is characterized by unexplained diarrhea, severe malabsorption, and massive electrolyte imbalance. Treatment involves rehydration with electrolytes and corticosteroids to reduce inflammation and pain.

What is the pathophysiology of celiac disease?

The pathophysiology of celiac disease involves the immune system's response to gluten. When gluten (specifically gliadin) is ingested, it is deaminated by tissue transglutaminase (tTG), and the resulting peptides are recognized by antigen-presenting cells. These cells activate T cells, which lead to inflammation and damage to the small intestine, affecting nutrient absorption.

What are the key pathological changes seen in the small intestine of individuals with celiac disease?

The key pathological changes in celiac disease include villous atrophy (loss of villi), crypt hyperplasia (increased number of crypt cells), increased lymphocytes in the lamina propria, and damage to the intestinal lining, which leads to malabsorption of nutrients.