Practice Essentials
Celiac disease, also known as celiac sprue or gluten-sensitive enteropathy, is a chronic disorder of the digestive tract that results in an inability to tolerate gliadin, the alcohol-soluble fraction of gluten. Gluten is a protein commonly found in wheat, rye, and barley.
When patients with celiac disease ingest gliadin, an immunologically mediated inflammatory response occurs that damages the mucosa of their intestines, resulting in maldigestion and malabsorption of food nutrients.
Signs and symptoms
Gastrointestinal symptoms
Gastrointestinal symptoms may include the following:
Diarrhea – 45-85% of patients
Flatulence – 28% of patients
Borborygmus – 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
Weakness and fatigue – 78-80% of patients; usually related to general poor nutrition
Severe abdominal pain – 34-64% of patients
Extraintestinal symptoms
Extraintestinal symptoms may include the following:
Anemia – 10-15% of patients
Osteopenia and osteoporosis – 1-34% of patients
Neurologic symptoms – 8-14% of patients; include motor weakness, paresthesias with sensory loss, and ataxia; seizures may develop
Skin disorders – 10-20% of patients; including dermatitis herpetiformis, a condition with pruritic, papulovesicular skin lesions involving the extensor surfaces of the extremities, trunk, buttocks, scalp, and neck
Hormonal disorders – Including amenorrhea, delayed menarche, and infertility in women and impotence and infertility in men
A bleeding diathesis is usually caused by prothrombin deficiency, due to impaired absorption of fat-soluble vitamin K.
Physical examination
A physical exam may reveal the following:
A protuberant and tympanic abdomen
Evidence of weight loss
Orthostatic hypotension
Peripheral edema
Ecchymoses
Hyperkeratosis or dermatitis herpetiformis
Cheilosis and glossitis
Evidence of peripheral neuropathy
Chvostek or Trousseau sign (seen in calcium deficiency)
See Clinical Presentation for more detail.
Diagnosis
Laboratory tests
The American College of Gastroenterology (ACG) recommends that antibody testing, especially immunoglobulin A anti-tissue transglutaminase antibody (IgA TTG), is the best first test for suspected celiac disease, although biopsies are needed for confirmation; in children younger than 2 years, the IgA TTG test should be combined with testing for IgG-deamidated gliadin peptides.
Other laboratory tests include the following:
Electrolytes and chemistries – Electrolyte imbalances; evidence of malnutrition
Hematologic tests – Anemia, low serum iron level, prolonged prothrombin time (PT), international normalized ratio (INR)
Stool examination – Fat malabsorption
Oral tolerance tests – Lactose intolerance
Serology – Immunoglobulin A (IgA) antibodies
Patients diagnosed with celiac disease should be examined for several 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.
Imaging studies
Radiographic evaluation of the small bowel after barium ingestion is helpful in making a diagnosis of untreated celiac disease. Abnormal radiographic findings can include dilatation of the small intestine, a coarsening or obliteration of the normally delicate mucosal pattern, and fragmentation or flocculation of the barium in the gut lumen.
Endoscopy and biopsy
Upper endoscopy with at least 6 duodenal biopsies is considered the criterion standard to help establish a diagnosis of celiac disease. Histologically, duodenal biopsies can be graded into the following 5 stages:
Stage 0 – Normal
Stage 1 – Increased percentage of intraepithelial lymphocytes (>30%)
Stage 2 – 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
See Workup for more detail.
Management
The primary treatment of celiac disease is dietary. Removal of gluten from the diet is essential, although complete avoidance of gluten-containing grain products is relatively difficult for patients to achieve and maintain; certain products, such as wheat flour, are virtually ubiquitous in the American diet.
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.
See Treatment and Medication for more detail.