History

The manifestations of untreated celiac disease can be divided into gastrointestinal symptoms and extraintestinal symptoms.

Gastrointestinal symptoms

Diarrhea is the most common symptom in untreated celiac disease and is present in 45-85% of all patients. Diarrhea caused by celiac disease is due to the maldigestion and malabsorption of nutrients. The stools might be watery or semiformed, light tan or gray, and oily or frothy. The stools have a characteristic foul odor. In infants and young children, extensive diarrhea can lead to severe dehydration, electrolyte depletion, and metabolic acidosis.

Malabsorption of ingested fat (steatorrhea) results in the delivery of excessive dietary fat to the large bowel. This results in the production of hydroxy fatty acids by bacteria, which causes secretion of fluids into the intestinal lumen.

Flatulence (28% of patients) and borborygmus (35-72% of patients) results from the release of gas by the intestinal bacterial flora feasting on undigested and unabsorbed food materials and often becomes excessive or even explosive.

Weight loss (present in 45% of all patients) is variable because some patients might compensate for the malabsorption by increasing their dietary intake. In infants and young children with untreated celiac disease, failure to thrive and growth retardation are common.

Weakness and fatigue (prevalence 78-80%) are usually related to the general poor nutrition. In some patients, severe anemia can contribute to fatigue. Occasionally, severe hypokalemia due to the loss of potassium in the stool can cause muscle weakness.

Severe abdominal pain (prevalence 34-64%) is unusual in patients with uncomplicated celiac disease. However, abdominal bloating or cramps with excessive malodorous flatus is a common complaint.

Extraintestinal symptoms

Anemia (10-15% of patients) is usually due to the impaired absorption of iron or folate from the proximal small intestine. In severe celiac disease with ileal involvement, absorption of vitamin B-12 may also be impaired.

A bleeding diathesis is usually caused by prothrombin deficiency due to the impaired absorption of fat-soluble vitamin K.

Osteopenia and osteoporosis (prevalence 1-34%) may develop for several reasons, including defective calcium transport by the diseased small intestine, vitamin D deficiency, and binding of luminal calcium and magnesium to the unabsorbed dietary fatty acids.

Neurologic symptoms (frequency 8-14%) that result from hypocalcemia include motor weakness, paresthesias with sensory loss, and ataxia. Seizures might develop because of cerebral calcifications.^[1]

Skin disorders, including dermatitis herpetiformis (a pruritic papulovesicular skin lesion involving the extensor surfaces of the extremities, trunk, buttocks, scalp, and neck), is associated in 10-20% of patients with celiac disease.

Hormonal disorders, such as amenorrhea, delayed menarche, and infertility in women and impotence and infertility in men, have been described.

Physical Examination

Physical examination findings may reveal the following:

Abdominal examination shows a protuberant and tympanic abdomen due to distention of the intestinal loops with fluids and gas. Ascites occasionally can be detected in patients with severe hypoproteinemia.
Evidence of weight loss, including muscle wasting or loose skin folds
Orthostatic hypotension
Peripheral edema
Ecchymoses
Hyperkeratosis or dermatitis herpetiformis
Cheilosis and glossitis
Evidence of peripheral neuropathy
Chvostek sign or Trousseau sign

Differential Diagnoses

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Author

Stephan U Goebel, MD Assistant Professor of Gastroenterology and Hepatology, Department of Medicine, Emory University School of Medicine

Stephan U Goebel, MD is a member of the following medical societies: American Gastroenterological Association, American Society for Gastrointestinal Endoscopy

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Chief Editor

BS Anand, MD Professor, Department of Internal Medicine, Division of Gastroenterology, Baylor College of Medicine

BS Anand, MD is a member of the following medical societies: American Association for the Study of Liver Diseases, American College of Gastroenterology, American Gastroenterological Association, American Society for Gastrointestinal Endoscopy

Disclosure: Nothing to disclose.

Acknowledgements

James L Achord, MD Professor Emeritus, Department of Medicine, Division of Digestive Diseases, University of Mississippi School of Medicine

James L Achord, MD is a member of the following medical societies: American Association for the Study of Liver Diseases, American College of Gastroenterology, American College of Physicians, American Gastroenterological Association, American Medical Association, American Society for Gastrointestinal Endoscopy, Mississippi State Medical Association, New York Academy of Sciences, Sigma Xi, and Southern Medical Association

Disclosure: Nothing to disclose.

Mounzer Al Samman, MD Assistant Professor, Department of Internal Medicine, Division of Gastroenterology, Texas Tech University School of Medicine

Mounzer Al Al Samman, MD is a member of the following medical societies: American College of Gastroenterology, American College of Physicians, and American Gastroenterological Association

Disclosure: Nothing to disclose.

Jan-Michael A Klapproth, MD Assistant Professor, Department of Medicine, Division of Digestive Diseases, Emory University School of Medicine

Jan-Michael A Klapproth, MD is a member of the following medical societies: American College of Gastroenterology, American Federation for Medical Research, American Gastroenterological Association, and Crohns and Colitis Foundation of America

Disclosure: Nothing to disclose.

Vincent W Yang, MD, PhD R Bruce Logue Professor, Director, Division of Digestive Diseases, Department of Medicine, Professor of Hematology and Oncology, Winship Cancer Institute, Emory University School of Medicine

Vincent W Yang, MD, PhD is a member of the following medical societies: Alpha Omega Alpha, American Gastroenterological Association, American Society for Clinical Investigation, and Association of American Physicians

Disclosure: Nothing to disclose.