“No matter how good I feel, I’ll always miss bread and pizza”
celiac disease, also known as celiac sprue or gluten-sensitive enteropathy, is a disorder of the digestive tract that results in an inability to tolerate certain diets. The major component in the diet to which the affected person is allergic is called as gliadin. Gliadin is the alcohol-soluble fraction of gluten. Gluten is a protein commonly found in wheat, rye, and barley.
It is the most common chronic gastrointestinal disorder in the world estimated to affect 0.5 to 1% of the population.
The exact prevalence in Pakistan is unknown but the disease is not very uncommon.
Since the patient is allergic to gluten, ingestion of food containing gluten like wheat induces an allergic/ inflammatory response in the body. This leads to disruption of the brush border of small intestine. The brush border or villi is responsible for absorbing most of the nutrients in the diet. Poor absorbing capacity of the intestine leads to diarrhoea and malnutrition.
What symptoms may be experienced by patients with celiac disease?
Since the major problem is disruption of villous architecture leading to malabsorption, most symptoms are related to the gastrointestinal tract. These include:
- Diarrhea – 45-85% of patients
- Flatulence or excessive abdominal gases – 28% of patients
- Borborygmus or gurgling sounds in the abdomen – 35-72% of patients
- Weight loss – 45% of patients; in infants and young children with untreated celiac disease, failure to thrive and growth retardation are common
- Sore tongue and angle of mouth
- Weakness and fatigue 78-80% of patients; usually related to general poor nutrition
- Severe abdominal pain 34-64% of patients
Other than the gastrointestinal symptoms, which are a direct consequence of bowl inflammation, extra-intestinal symptoms are also not uncommon. These symptoms are usually secondary to deficiency of nutrients but may also result from being part of the inflammatory process.
- Anemia – this is due to deficiency of iron, folic acid and vitamin B 12. 10-15% of patients can present with anemia.
- Osteopenia and osteoporosis – decreased mineralization and weakening of the bones is secondary to deficiency of calcium and vitamin D. 1-34% of patients have these metabolic bone diseases.
- Neurologic symptoms – (8-14% of patients); include motor weakness, numbness and paraesthesias, imbalance; poor memory and seizures may develop. Twitching of facial muscles due to hypocalcemia.
- Skin disorders – 10-20% of patients; including dermatitis herpetiformis, a condition with itchy skin lesions involving the extensor surfaces of the extremities, trunk, buttocks, scalp, and neck
- Hormonal disorders – Including abnormal or delayed onset of menstrual cycles, and infertility in women. Impotence and infertility in men has also been documented.
- A bleeding diathesis is usually caused by prothrombin deficiency, due to impaired absorption of fat-soluble vitamin K.
How to diagnose celiac disease?
To confirm the diagnosis, the American College of Gastroenterolgy (ACG) recommends antibody testing. Anti tissue transglutaminase antibody of the Immunoglbulin A (IG A) type is the best first test for suspected celiac disease. Biopsies are needed for confirmation.
Other laboratory tests include the following:
- Electrolytes and chemistries – Electrolyte imbalances like low potassium, low calcium and low magnesium may be found
- Anemia, or low haemoglobin due to iron deficiency
- Prolonged prothrombin time (PT)
- Stool examination – 72 hours stool fat estimation to suggest fat malabsorption
- Serology – Immunoglobulin A (IgA) antibodies (anti Tissue transglutaminase antibodies)
Patients diagnosed with celiac disease should be examined for deficiencies, including low bone density. Patients already on a gluten-free diet without prior testing need to be evaluated to assess the likelihood that celiac disease is present; genetic testing and a gluten challenge are most helpful.
Endoscopy and Biopsy
Upper GI endoscopy with at least 6 duodenal biopsies is considered the criterion standard to help establish a diagnosis of celiac disease. Microscopic findings in patients with celiac disease include increased number of inflammatory cells in the intestinal biopsy and loss of villous architecture.
Management of patients with celiac disease.
The primary treatment of celiac disease is removal of gluten from diet. Removal of gluten from the diet is essential, although complete avoidance of gluten-containing grain products is relatively difficult as wheat flour is ubiquitous. Patients should be advised to restrict food items containing wheat, rye and barley.
Patients should be started on replacement of deficient nutrients. These include iron supplementation, calcium and vitamin D replacement, zinc, B complex vitamins, vitamin A, vitamin K and vitamin C supplementation. Patients should also be advised high caloric diet and high protein diet for weight gain and improving muscle mass.
Foods which can be taken safely by patients with celiac disease include rice, meat, all fruits, milk and dairy products, vegetables and corn (maize), beans and potatoes.
A small percentage of patients with celiac disease fail to respond to a gluten-free diet. In some patients who are refractory, corticosteroids may be helpful.
Patients with celiac disease are at an increased risk for complications, such as lymphomas and adenocarcinomas of the intestinal tract.
Untreated pregnant women are at risk of miscarriage and at risk of having a baby with congenital malformations.