Celiac disease (also called idiopathic steatorrhea, nontropical sprue, gluten enteropathy, celiac sprue) is relatively uncommon. It's characterized by poor food absorption and intolerance of gluten, a protein in wheat and wheat products. With treatment (eliminating gluten from the patient's diet), the prognosis is good, but residual bowel changes may persist in adults.
Celiac disease affects twice as many females as males and is more common among relatives, especially siblings. The incidence in the general population is about 1 in 3,000. This disease primarily affects whites of northwestern European ancestry; it's rare among Blacks, Jews, Asians, and people of Mediterranean ancestry. It may occur in adults but usually affects children, most commonly betWeen ages 9 and 18 months.
Doctors don't fully understand what causes celiac disease, but eating gluten seems to be involved. Most likely, patients whose immune systems are genetically predisposed develop the disease after exposure to gluten. There is some evidence that in such people, earlier exposure in infancy causes more severe disease than later exposure.
Signs and Symptoms
Both the patient and family history should be investigated. If the patient is a child, the history may reveal that symptoms emerged during the first year of life, shortly after gluten-containing cereal was introduced into the diet. The family history may disclose that siblings, parents, or other relatives have had obscure digestive complaints such as intermittent diarrhea or, in children, failure to thrive and gain weight.
Symptoms are varied but typically include recurrent attacks of diarrhea, steatorrhea, abdominal distention from flatulence, stomach cramps, weakness, anorexia and, occasionally, increased appetite without weight gain. The patient or her parents may report bulky, foul-smelling stools. The patient may experience mood changes and irritability. Women may report amenorrhea.
On inspection, the patient may have a distended abdomen or appear malnourished. In children, you may notice a potbelly and obvious muscle wasting. Skin inspection may show dryness or rashes, such as eczema, psoriasis, dermatitis herpetiform is, and acne rosacea. Other findings on inspection include generalized fine, sparse, prematurely gray hair; brittle nails; and localized hyperpigmentation on the face, lips, or mucosa.
Sometimes the patient denies diarrhea or steatorrhea but complains of bone pain, especially in the lower back, rib cage, and pelvis. This symptom may indicate compression fractures in adults or rickets in children caused by calcium loss and vitamin D deficiency. The patient may also have a history of seizures or paresthesia.
Because celiac disease produces clinical effects in many body systems, a variety of tests may be ordered.
Small-bowel biopsy showing histologic changes confirms the diagnosis. Histologic changes reveal a mosaic pattern of alternating flat and bumpy areas on the bowel surface (reflecting an almost total absence of villi) and an irregular, blunt, and disorganized network of blood vessels. These changes appear most prominently in the jejunum.
Upper GI series, followed by a small-bowel series, demonstrates protracted barium passage. The barium shows up in a segmented, coarse, scattered, and clumped pattern; the jejunum shows generalized dilation.
Glucose tolerance test shows poor glucose absorption.
Xylose tolerance test discloses low urine and blood levels of xylose (less than 3 g over 5 hours); however, renal disease may cause a false-positive result.
Serum carotene levels are low, indicating malabsorption. (Because the body neither stores nor manufactures carotene, the patient must ingest carotene for several days before the test.)
Stool specimen analysis, after a 72-hour stool collection, shows excess fat.
Hemoglobin (Hb) level and hematocrit (HCT), as well as white blood cell and platelet counts, may be decreased.
Albumin, sodium, potassium, cholesterol, and phospholipid levels are reduced; prothrombin time is commonly decreased.
Elimination of gluten from the patient's diet is the required - and lifelong - treatment. About 80% of patients improve after this exclusion, but full return to normal absorption and bowel histology may not occur for months or may never occur. The gluten-free diet is high in protein but low in carbohydrates and fat. Depending on individual tolerance, the diet initially consists of proteins and is gradually expanded to include other nutrients.
Supportive treatment may include supplemental iron, vitamin B12, and folic acid; reversal of electrolyte imbalance (by I.V. infusion if necessary); I.V. fluid replacement for dehydration; corticosteroids (prednisone, hydrocortisone) to treat accompanying adrenal insufficiency; vitamin K for hypoprothrombinemia; and, when necessary, parenteral nutrition.
If celiac disease runs in your family, ask your doctor about a screening test. The earlier you start the gluten-free diet, the less damage there will be to the intestine.
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