Celiac Disease (Sprue) Clinical Presentation

Updated: Jan 09, 2017
  • Author: Stephan U Goebel, MD; Chief Editor: BS Anand, MD  more...
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Presentation

History

The manifestations of untreated celia 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 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 intestine.

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 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 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 impaired absorption of fat-soluble vitamin K.

Osteopenia and osteoporosis (prevalence 1-34%) might cause bone pain for several reasons, including defective calcium transport by the diseased small intestine, vitamin D deficiency, and binding of luminal calcium and magnesium to 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.

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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
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