Celiac Disease

Celiac Disease is an autoimmune gastrointestinal disease that leads to malabsorption and changes in bowel habits in addition to producing a vast array of symptoms across multiple systems in the body. It is also known as “Gluten-sensitive enteropathy” and “Celiac sprue”.

Due to the malabsorptive effect of celiac disease and the reduction in the quality of life of patients with Celiac Disease, it is associated with symptoms associ

MECHANISM OF DISEASE

Gliadin, which is a metabolic product of Gluten, triggers a mucosal inflammatory response within the small intestine – this is why it is said that Gluten or gluten-sensitivity causes Celiac disease.

The triggered mucosal inflammatory response causes autoimmune destruction depletion of the mucosa which is important for the absorption of food nutrients, thereby causing deficiencies in a certain element like folic acid, iron and calcium.

It occurs mostly in the proximal bowel but it can occur in many different areas in the bowels which lead to since the proximal bowel duodenum is responsible for absorption of those elements.

RISK FACTORS

Family History and Genetics: 10-15% of people who have first degree relatives with Celiac Disease eventually come down with celiac disease also.

Autoimmune conditions like Type 1 diabetes, Sjogren’s syndrome and Juvenile Chronic arthritis

Other Genetic conditions such as Down’s Syndrome, Turner Syndrome, Williams Syndrome

GENERAL SYMPTOMS

GASTROINTESTINAL:

  • Abdominal pain

  • Chronic or recurrent diarrhoea

  • Weight loss

  • Malabsorption: Vitamin D, vitamin K, iron and calcium deficiencies

  • Distension and bloating

  • Steatorrhea: Inability to absorb and digest fats well

DERMATOLOGICAL:

Dermatitis herpetiformis: A very itchy skin rash most often found on forearms, buttocks, knees and scalp. This is due to an autoimmune cutaneous eruption which are intensely pruritic and inflammatory papules and vesicles.

PS: All individuals with dermatitis herpetiformis have celiac disease but not all celiac disease patients have dermatitis herpetiformis.

Other symptoms include:

  • Fatigue

  • Recurrent headache

  • Reduced fertility

  • Failure to thrive or stunted growth in children

  • Osteoporosis and metabolic bone disease due to decreased absorption of Calcium and Vit. D

  • Anemia Due to Iron deficiency or Vit B12/Folate Deficiency

  • Idiopathic peripheral neuropathy

  • Nonhereditary cerebellar ataxia

  • Dental enamel hypoplasia

  • Aphthous Stomatitis

DIAGNOSIS

Genetic Tests:

 

Celiac disease has a strong genetic basis and is possible, genetic testing should be performed on all individuals suspected of having celiac disease. The genes responsible for celiac disease are;

HLA-DQ2

HLA-DQ8

Absence of the above genetic alleles can effectively rule out true celiac disease and presence of these genes greatly increases the risk. This still however, does not mean that everyone with the above genetic combination will develop celiac disease because several environmental factors and most importantly, several years of gluten exposure has to happen to turn on or express these genes. 

Blood Serology:

 

Following antibodies are tested with the help of a blood test if celiac disease or gluten sensitivity are suspected. Because avoiding gluten may result in a false negative result, gluten should not be removed from diet for this panel.

1. Anti-gliadin antibodies IgA

2. Anti-gliadin antibodies IgG

3. Tissue transglutaminase antibodies IgA

4. Tissue transglutaminase antibodies IgG

5. Total serum IgA levels

Confirmatory tests with small bowel biopsy in 4 locations often in the duodenum will show a patient with celiac disease have increased intraepithelial lymphocytes, villous atrophy, and crypt hyperplasia.

 

This is required to distinguish from non-celiac gluten sensitivity because individuals might have gluten sensitivity and have a positive TTG with normal IgA and not have other findings with the small bowel biopsy.

TREATMENT

  • Strictly gluten-free diet: while rice and corn might be safe, strictly avoid barley, rye, oats, and wheat to improve symptoms within 3months. 

  • Vitamin supplementation

  • Small intestinal endoscopy and biopsy for disease progression

  • Monitoring for complications and associated conditions