What is Celiac Disease?
Celiac disease (CD), also known as celiac sprue or gluten-sensitive enteropathy, is an inflammatory condition of the gastrointestinal (GI) tract in genetically susceptible individuals. The disease specifically affects the small intestine and is characterized by inflammatory injury to the lining of the intestine following ingestion of gluten. Gluten (gliadin) is a mixture of proteins found in wheat, rye, barley, and to a lesser extent, oats.
Classically, the disease is described by villous atrophy (a wasting away of intestinal villi), malabsorptive symptoms like steatorrhea (fat globules in the bowel movement), weight loss, or nutritional deficiencies (like low levels of iron or calcium), and a resolution of symptoms and intestinal damage after stopping the ingestion of gluten-containing foods. Looking under a microscope you would see a loss in height of the villi (finger-like projections in the intestine which are important for digestion). In severe cases of sprue, the villi can be completely destroyed and flattened by the immune system’s reaction.
There are a number of different symptoms that people with the disease may show. Some people are entirely without symptoms, while others can have chronic fatigue, abdominal pain, weight loss (this is a classic symptom), malnutrition, anemia, diarrhea, and other gastrointestinal problems. Symptoms that are not gastrointestinal include depression, bone weakness, dermatitis herpetiformis (DH), and possibly increased risk of certain cancers. These symptoms, clinical manifestations, and risks, as well as damage to the intestine, resolve after gluten is removed from the diet.
Please see the Frequently Asked Questions section for more information regarding celiac disease.
Clinical Manifestations of Celiac Sprue (Adapted from Kelly, NEJM, Jan 2002)
Below you will find several clinical manifestations of celiac sprue. The medical terminology used to describe the disease is listed, and then clarified with the text in the bracket. This will help you to become more familiar with terms that you may hear your physician using during your visits.
Common Features
Adults
Iron-deficiency anemia [a decrease in red blood cell number due to insufficient amounts of iron absorption and/or to chronic bleeding from the gastrointestinal tract]
Diarrhea
Children
Diarrhea
Failure to thrive [decrease in weight or inability to gain weight, loss of appetite]
Abdominal Distension [bloating of the belly]
Less Common Features
These conditions are less often seen in patients with celiac disease
General features
Short stature
Delayed Puberty
Gastrointestinal features
Recurrent aphthous stomatitis [inflammation in the mouth causing small ulcers to form]
Recurrent abdominal pain
Steatorrhea [fat in the bowel movement]
Extraintestinal Features
Folate-deficiency anemia [a decrease in red blood cell number due to insufficient amounts of folate]
Osteopenia or Osteoporosis [a decrease in bone mass due to insufficient calcium absorption]
Dental-enamel hypoplasia [sub-optimal production of tooth enamel]
Vitamin K deficiency
Hypertransaminasemia [elevated enzymes levels in the blood]
Thrombocytosis [overproduction of platelets]
Arthralgia [pain in the joints]
Arthropathy [inflammatory joint disease; i.e. arthritis]
Polyneuropathy [disease of the nerves]
Ataxia [defective muscular coordination; manifested when voluntary muscular movements are attempted]
Epilepsy [seizures]
Infertility
Recurrent abortions
Anxiety and depression
Follicular Keratosis [a skin problem]
Alopecia [hair loss from the scalp]
Hyposplenism [poor function of the spleen which can increase risk/severity of infection]
Associated Conditions
Definite Associations:
- Dermatitis herpetiformis
- IgA deficiency
- Type I diabetes
- Autoimmune thyroid disease
- Sjögren’s syndrome
- Microscopic Colitis
- Rheumatoid arthritis
- Down’s syndrome
- IgA nephropathy
Possible Associations:
- Congenital Heart disease
- Recurrent pericarditis
- Sarcoidosis
- Cystic Fibrosis
- Fibrosing Alveolitis
- Lung Cavities
- Pulmonary Hemosiderosis
- Inflammatory Bowel Disease
- Autoimmune Hepatitis
- Primary Biliary Cirrhosis
- Addison’s Disease
- Systemic Lupus erythematosus
- Vasculitis
- Polymyositis
- Myasthenia gravis
- Schizophrenia
Complications
- Refractory Sprue
- Enteropathy-associated T-Cell lymphoma
- Carcinoma of the oropharynx, esophagus and small bowel [cancer of the stated organs]
- Ulcerative jejunoileitis
- Collagenous Sprue
