Malabsorption disorders

Stool may also be analyzed for mucus, fat, osmolality, fecal leukocytes, and pH. The presence of mucus suggests colonic involvement. Fat in the stool may be due to a malabsorption disorder. Fecal leukocytes can be found in inflammatory diarrheas including infections caused by invasive bacteria (e.g., E. coli, Shigella, and Campylobacter species). Stool pH (normally greater than 6) is decreased by bacterial fermentation processes. 

Deficiencies characterized by excessive bleeding may occur in infants due to their lack of intestinal bacteria or In adults having fat malabsorption disorders, such as cystic fibrosis, which result in insufficiency of pancreatic lipase secretion. 

Osmotic diarrhoea occurs when a non-absorbable substance draws fluid into the intestine by osmosis, for example lactase deficiency, when unabsorbed lactose remains in the intestine. This type of problem also occurs in malabsorption disorders, for example in celiac disease. 

Malabsorption has many causes. Some malabsorptive disorders, for example coeliac sprue, impair the absorption of most nutrients, vitamins and trace minerals (global malabsorption) others, for example pernicious anaemia, are more selective. Pancreatic insufficiency causes malabsorption if >90% of function is lost. Increased lumen acidity (e.g. Zollinger-Ellison syndrome) inhibits lipase and fat digestion. Cirrhosis and cholestasis reduce hepatic bile synthesis or delivery of bile salts to the duodenum, causing malabsorption. Some causes are summarised in Table 4.2. 

Since vitamin E is absorbed from the intestines in chylomicrons, any fat malabsorption diseases can lead to deficiencies in vitamin E intake. Neurological disorders have been associated with vitamin E deficiencies associated with fat malabsorptive disorders. 

Head and neck Esophagus or stomach Malabsorption Disorder of GI motility Crohn s disease and ulcerative colitis... 

Calcium absorption is reduced by high pH complex-ing agents such as oxalate, phytate, free fatty acids, and phosphate and shortened transit times. These factors are probably of clinical importance only when associated with vitamin D deficiency, marginal calcium intake, or malabsorption disorders. Absorption is also reduced by increased intake of protein, fat, and plant fiber increasing age stress chronic alcoholism immobilization (e.g., prolonged hospitalization) and drugs such as tetracycline, thyroid extract, diuretics, and aluminum-containing antacids. 

Malabsorption disorders such as Crohn disease can decrease absorption of phosphates. 

Chronic diarrhea lasts for longer than 4 weeks. Most cases result from functional or inflammatory bowel disorders, endocrine disorders, malabsorption syndromes and drugs (including laxative abuse). In chronic diarrhea, daily watery stools may not occur. Diarrhea may be either intermittent or persistent. 

Abetalipoproteinemia is a genetic disorder characterized by malabsorption of dietary hpid, steatorrhea (fetty stools), accumulation of intestinal tr yceride, and hypolipoproteinemia. 

Hartnup disorder Is a rare condition caused by impaired resorption of neutral amino acids (especially tryptophan, alanine, threonine, glutamine, and histidine) In the renal tubules and malabsorption In the Intestine, resulting from mutations that lead to defective function of a neutral amino acid transporter. 

Vitamin E may be indicated in some rare forms of anemia such as macrocytic, megaloblastic anemia observed in children with severe malnutrition and the hemolytic anemia seen in premature infants on a diet rich in polyunsaturated fatty acids. Also anemia s in malabsorption syndromes have shown to be responsive to vitamin E treatment. Finally, hemolysis in patients with the acanthocytosis syndrome, a rare genetic disorder where there is a lack of plasma jS-lipoprotein and consequently no circulating alpha tocopherol, responds to vitamin E treatment. In neonates requiring oxygen therapy vitamin E has been used for its antioxidant properties to prevent the development retrolental fibroplasia. It should be noted that high dose vitamin E supplements are associated with an increased risk in allcause mortality. 

Diarrhea is the frequent passage of watery, unformed stools. Its many causes include IBS, infectious disorders, thyrotoxicosis, malabsorption, medication side effect, and laxative abuse. Attempts to treat diarrhea should first focus on the patient s list of medications followed by a search for an underlying systemic disorder. Opioids and 5-HT3 receptor antagonists, such as alosetron, slow motility and can therefore decrease or eliminate diarrhea. 

The following chronic neuropsychiatric disorders may arise from nutritional deficiencies, gastric malabsorption, and hepatic dysfunction ... 

The main features of hypocalcemia are neuromuscular—tetany, paresthesias, laryngospasm, muscle cramps, and convulsions. The major causes of hypocalcemia in the adult are hypoparathyroidism, vitamin D deficiency, chronic kidney disease, and malabsorption. Neonatal hypocalcemia is a common disorder that usually resolves without therapy. The roles of PTH, vitamin D, and calcitonin in the neonatal syndrome are under active investigation. Large infusions of citrated blood can produce hypocalcemia by the formation of citrate-calcium complexes. Calcium and vitamin D (or its metabolites) form the mainstay of treatment of hypocalcemia. 

In chylomicron retention disease (Anderson s disease) the secretory defect is restricted to intestinal apoB-containing lipoproteins (i.e., chylomicrons). This very rare recessively inherited disorder results from defects in a GTPase, Sarlb, which plays a critical role in the intracellular assembly and trafficking of chylomicrons. The affected patients present with fat malabsorption resulting in steatorrhea and deficiency of fat-soluble vitamins [46, 52, 54]. 

CFD is further associated with the following inherited metabolic disorders 5,10-methylen-tetrahydrofolate reductase (MTHFR) deficiency [7], 3-phos-phoglycerate dehydrogenase (PGDH) deficiency [8], dihydropteridine reductase (DHPR) deficiency [9], as well as with Rett syndrome [10], and Aicardi-Gou res Syndrome [11]. Furthermore, folate deficiency may be associated with congenital folate malabsorption, severe malnutrition, and formiminotransferase deficiency. 

Csako G, McGriff NJ, Rotman-Pikielny P, Sarlis NJ, Pucino F. Exaggerated levothyroxine malabsorption due to calcium carbonate supplementation in gastrointestinal disorders. Ann Pharmacother 2001 35(12) 1578-83. 

Folic acid deficiency, unlike vitamin B12 deficiency, is often caused by inadequate dietary intake of folates. Alcoholics and patients with liver disease develop folic acid deficiency because of poor diet and diminished hepatic storage of folates. There is also evidence that alcohol and liver disease interfere with absorption and metabolism of folates. Pregnant women and patients with hemolytic anemia have increased folate requirements and may become folic acid-deficient, especially if their diets are marginal. Evidence implicates maternal folic acid deficiency in the occurrence of fetal neural tube defects, eg, spina bifida. (See Folic Acid Supplementation A Public Health Dilemma.) Patients with malabsorption syndromes also frequently develop folic acid deficiency. Folic acid deficiency is occasionally associated with cancer, leukemia, myeloproliferative disorders, certain chronic skin disorders, and other chronic debilitating diseases. Patients who require renal dialysis also develop folic acid deficiency, because folates are removed from the plasma each time the patient is dialyzed. 

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