Essentials Of Diagnosis
· Typical symptoms: Weight loss, chronic diarrhea, abdominal distension, growth retardation
· Atypical symptoms: dermatitis herpetiformis, iron deficiency anemia, osteoporosis
· Abnormal serologic test results
· Abnormal small bowel biopsy
· Clinical improvement on gluten-free diet
Coeliac disease is a condition where the intestine is sensitive to glutein-containing foods. It is also known as sprue, gluten enteropathy or celiac sprue. It is a permanent dietary disorder characterized by intestinal malabsorption. It can cause chronic diarrhea or maybe not. Non diarrhea form of celiac disease is characterized by villous atrophy and leads to vitamin and mineral malabsorption.
This disease is mainly seen in Northern Europe with female predominant to male in 3:2 ratio. The prevalence is about 1 in 120-300 persons in North America. Suspicion of celiac disease should be raise in failure to thrive or pregnant women with severe anemia (if no other cause can be found). First degree relatives have 10% incidence and 71% incidence in monozygotic twins.
Signs and symptoms:
· Diarrhea
· Steatorrhea
· Muscle cramps
· Iron deficiency anemia
· Nervousness
· Weight loss
· Failure to thrive (slow velocity of weight gain or short stature)
· Generalized weakness
· Lassitude
· Fatigue
· Large appetite
· Explosive flatulence
· Abdominal pain with nausea and vomiting (rare)
· Recurrent apthous stomatitis
Blood investigations and imaging:
· Liver function test – elevated liver enzymes, decrease total protein
· Full blood count -anemia
· Positive IgA antiendomysial antibodies and IgA transglutaminase during normal diet (non gluten free diet) – test sensitivity 90-98%, specificity 98%
· False negative IgA ti-endomysial and IgA ti-translutaminase antibodies in patients with IgA deficient
· 72 hour fecal fat (>7% fat malabsorption)
· D-xylose test – malabsorption of this sugar
· Coagulation profile – increase PT (prothrombin time)
· Decrease calcium, neutral fats, cholesterol, vitamin (A, B12, D, C, folic acid), iron
· Barium swallow – flocculation of barium, edema and flattening of mucosal folds
· Endoscopy with diagnostic biopsy of the duodenal mucosa (shows flattened villi, hyperplasia, lengthening of crypts, infiltration of plasma cells and lymphocytes in lamina propria). To confirm the diagnosis, biopsy should be done with a gluten free diet, and the result should be normal.
· Repeat endoscopy after 6-8 weeks to monitor selective cases.
Some differential diagnosis that should be considered:
· Short bowel syndrome (patient may underwent surgery of bowel resection)
· Pancreatic insufficiency
· Crohn disease
· Whipple disease
· Hypogammaglobulinaemia
· Tropical sprue
· Lymphoma
· AIDS
· Acute enteritis
· Giardisis
· Eosinophilic gastroenteritis
· Pancreatic disease
Treatment and management:
Most of the times the patient can be manage at outpatient setting. Consider pneumococcal vaccination because hyposplenism is common in this group of patient. The patient should take gluten free diet. Rice, corn and soybean flour are safe.
Medications should only be prescribed if diet treatment is failed. Patient will be prescribed prednisolone (40-60mg daily). In refractory sprue, consider corticosteroids and immunosuppression with azathioprine, cyclosporine (and ?infliximab in the future). Steroid is contraindicated in tuberculosis, fungus or herpes infections. Precaution should be taken in congestive heart failure, diabetes, peptic ulcer and myasthenia gravis.
Some gluten rich diet that should be avoided:
· Wheat
· Rye
· Barley
· Food contains gluten additives
Complications:
· Malignancy is less 10% of patients (50% if the patients have small bowel lymphoma)
· Refractory sprue – in some patients, the disease may evolve and become refractory to the gluten free diet
· Chronic ulcerative jejunoileitis –this is associated with multiple ulcers, intestinal bleeding, strictures, perforation, obstruction and peritonitis. It has 7% mortality
· Osteoporosis (secondary to calcium and vitamin D depletion)
· Dehydration
· Electrolyte depletion
· Refractory sprue cases may need total parenteral nutrition
· Death (rare)
Summary:
The prognosis is excellent if patient is appropriately diagnose and compliance to gluten free diet. Usually, patient will feel better in 7 days and all symptoms usually disappear in 4-6 weeks after change their diet.
References:
1. The 5-Minute Clinical Consult. Frank J Domino. 16th edition. 2008.
2. Current Medical Diagnosis and Treatment. Lange Mc Graw Hill. 2009.
