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​Celiac Disease 

What is celiac disease ?

Celiac disease also known as celiac sprue or gluten sensitive enteropathy is a chronic digestive autoimmune disorder resulting from an immune reaction to gliadin, a gluten protein found in wheat, barley, rye, and sometimes oats. 

When patients ingest gliadin, an immunologically mediated inflammatory response occurs that damages the mucosa of their intestines, resulting in maldigestion and malabsorption of food nutrients affecting growth and development in children. The intestinal damage often causes diarrhea, fatigue, weight loss, bloating and anemia, and can lead to serious complications. 

There's no cure for celiac disease so patients are advised to follow a strict gluten-free diet so that they can help manage symptoms and promote intestinal healing.

Epidemiology 


Estimates suggest that approximately 1% of the Western population is affected. It is most prevalent in Western Europe and the United States, with an increasing incidence in Africa and Asia. Females are affected slightly more than males. The age distribution of patients is bimodal, the first at 8-12 months and the second in the third to fourth decades. The prevalence of the condition in first-degree relatives is approximately 10%. There is  strong association exists between celiac disease and two human leukocyte antigen (HLA) haplotypes (DQ2 and DQ8).
What causes Celiac disease? 

Celiac disease is an auto immune disorder. When the patient eats gluten, the immune systems are activated and attack and damage the villi in the small intestine. These become inflamed and impacted, and they may disappear. As a result the small intestine is no longer able to absorb nutrients effectively causing maldigestion and malabsorption. 

Genetic factors also play a part in celiac disease. The prevalence in first-degree relatives of patients with celiac disease is approximately 10%. Concordance for the disease in monozygotic twins approaches 75% and is approximately 30% for first-degree relatives. HLA-DQ2 heterodimers or HLA-DQ8 heterodimers found in 90-95% and 5-10% of patients with celiac disease. 

Risk Factors for developing Celiac disease : 
  • A family member with celiac disease or dermatitis herpetiformis
  • Another autoimmune disease such as Type 1 diabetes, thyroid disease and addison's disease
  • Genetic disorder: Down syndrome or Turner syndrome
  • Microscopic colitis (lymphocytic or collagenous colitis)
Symptoms of celiac disease

​Symptoms can range from mild to severe, they can change over time, and they can vary between individuals. 

1. Gastrointestinal symptoms
- 
Diarrhea is the most common symptom in untreated celiac disease and is present in 45-85% of all patients. It is due to the maldigestion and malabsorption of nutrients. 
- The stools have a characteristic foul odor. 
- Oily stools (Steatorrhea): because of malabsorption of ingested fat 
- Flatulence in about 30% of patients as a result from the release of gas by the intestinal bacterial flora feasting on undigested and unabsorbed food materials 
- Weight loss in about 45% of all patients as a result of malabsorption 
- Failure to thrive and growth retardation in untreated infant and young children due to malabsorption and maldigestion of food 
​- Weakness and fatigue in up to 80%of patients are usually related to the general poor nutrition or anemia due to malabsorption of iron and vitamin b12

- Severe abdominal pain with of prevalence 34-64%

2. Extra-intestinal symptoms 
- Anemia:in 10-15% patients due to malabsorption of iron and vitamin b12
- Osteopenia and osteoporosis with a prevalence 1-34% due to vitamin d deficiency as a result of defective calcium transport by the diseased small intestine and binding of luminal calcium and magnesium to the unabsorbed dietary fatty acids.
- Bleeding disorder : due to vitamin k malabsorption leading to prothrombin deficiency 
- Neurologic symptoms like motor weakness, paresthesias with sensory loss, and ataxia occur in 8-14% of patients due to hypocalcemia . Seizures might develop because of cerebral calcifications.
- Hormonal disorders: amenorrhea, delayed menarche, and infertility in women and impotence and infertility in men.
- Skin disorders including dermatitis herpetiformis (a itchy blistering rash involving the elbows, trunk, buttocks, scalp, and neck) in 10-20% of patients
- Cancer: People with celiac disease who don't maintain a gluten-free diet have a greater risk of developing several forms of cancer, including intestinal lymphoma and adenocarcinoma of small bowel, pharynx and esophagus.
- Damage to tooth enamel and delayed puberty in children 
Diagnosis of Celiac disease 

The diagnosis of celiac disease is confirmed via histopathologic evaluation of duodenal biopsy specimens. Patient should do the biopsy before starting gluten free diet. Antibody testing especially immunoglobulin A anti-tissue transglutaminase antibody (IgA TTG) from biopsy specimen is carried out. 

Laboratory tests

1. Diagnostic Serology testing for antibodies: antigliadin antibodies, endomysial antibodies and anti-tissue transglutaminase antibodies  in your blood. Elevated levels of these antibody proteins indicate an immune reaction to gluten.

2. Genetic testing for human leukocyte antigens (HLA-DQ2 and HLA-DQ8) 

3. Electrolytes and other labs: Electrolyte imbalances such as hypokalemia, hypocalcemia, hypomagnesemia, and metabolic acidosis. OR hypoalbuminemia, hypoproteinemia, hypocholesterolemia, and a low serum carotene level due to malabsorption. 

​4. Hematological tests:  Anemia due to mild absorption in iron, folate and vitamin b 12

5. Stool examination : A Sudan stain of the stool might reveal fat droplets. For a more quantitative measurement of fat absorption, a 72-hour fecal fat collection can be done. 

6. Oral D-xylose tolerance test can reveal carbohydrate malabsorption. In untreated celiac disease, urinary D-xylose excretion and peak blood xylose levels are depressed.


Imaging 

1. Small bowel imaging series: Radiographic evaluation of the small bowel after barium ingestion will reveal abnormal radiographic findings can include dilatation of the small intestine, a coarsening or obliteration of the normal mucosal pattern and fragmentation or flocculation of the barium in the gut lumen.

2. Bone Mineral Density test: celiac disease patients due to malabsorption of calcium and vitamin D are more prone to osteopeia and osteoporosis. 


Endoscopy 

Upper endoscopy with at least 6 duodenal biopsies is considered the criterion standard to help establish a diagnosis of celiac disease. The biopsy specimens are sent for histologic examinations looking for features of celiac disease. 

Histologically staging of duodenal biopsies can be graded into 5 stages:
  • Stage 0 - Normal
  • Stage 1 - Increased percentage of intraepithelial lymphocytes (>30%)
  • Stage 2 - Characterized by an increased presence of inflammatory cells and crypt cell proliferation with preserved villous architecture
  • Stage 3 - Mild (A), moderate (B), and subtotal to total (C) villous atrophy
  • Stage 4 - Total mucosal hypoplasia
Treatment of Celiac disease- Dietary 
​
There is no cure for celiac disease, the only mangement is dietary namely to abstain from gluten. With strict observance of the diet, the intestines will normally heal and symptoms disappear, but eating gluten again can cause a relapse. For children, that usually takes three to six months for healing. For adults, complete healing might take several years.

Most fresh meats, eggs, fruits, vegetables, nuts, potatoes and dairy products are safe to consume. 
Grains and starches allowed in a gluten-free diet include: Buckwheat, Corn, Gluten-free flours (rice, soy, corn, potato, bean) , amaranth, Quinoa, Rice and Tapioca.

A gluten-free diet, patient should avoid:
  • foods made from wheat, rye, bran, enriched flour, bulgur and barley, including cereals, breads, pasta, croutons, crackers, cakes, and cookies
  • beer and other grain-based alcohol
  • oats as some can be contaminated with wheat.

​Patients should also avoid many processed foods which contain gluten:
  • canned soups
  • salad dressings, ketchup, and mustard
  • soy sauce
  • seasonings
  • ice cream and candy bars
  • processed and canned meats and sausages

Gluten may also be used in the following thus one should read the ingredients of products before using:
  • some medications
  • vitamin supplements
  • cosmetic products such as lipstick, lip gloss, and toothpaste
  • postage stamps
Medications
​​
1. Steroids: A small percentage of patients with celiac disease fail to respond to a gluten-free diet. In some patients who has refractory celiac disease, corticosteroids might be helpful to control inflammation. 

2. Imuuno-supressants: for refractory celiac disease whereby gluten free diet doesn't help 

3. Vitamins and mineral supplements: due to malabsorption, patients will have vitamin or mineral insufficiency and they need supplements. For example, iron, folate, calcium, vitamin D , vitamin b and zinc suppements. But check the content of supplements to make sure they are gluten free. 

​3. Dapsone: For patients with dermatitis herpetiformis, dapson can help control symptoms. 
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