Lipid Malabsorption The three major forms of lipid malabsorption are abetalipoproteinemia, familial hypobetalipoproteinemia (565), and diabetes. Several other related syndromes result in lipid accumulations in enterocytes producing histologic patterns indistinguishable…
Celiac Disease Celiac disease (CD), also known as gluten-sensitive enteropathy and celiac sprue, is a malabsorptive disease in which the intestinal mucosa is injured as a result of ingestion of…
Malabsorptive Diarrhea Malabsorptive diarrhea is a newly discovered autosomal recessive disorder that presents as congenital malabsorptive diarrhea and an almost complete absence of intestinal endocrine cells. The patients present in…
Autoimmune Enteropathy Autoimmune enteropathy is a life-threatening disorder of infancy that almost exclusively affects males. It is characterized by intractable diarrhea and a constellation of associated autoimmune diseases, including membranous…
Microvillous Inclusion Disease Microvillous inclusion disease (MID) occurs worldwide in infants from varying ethnic backgrounds. The disease may have a familial component as it sometimes occurs in multiple siblings (543)….
Intestinal Goblet Cell Autoantibody-Associated Enteropathy There is a second form of autoimmune enteropathy that is characterized by the presence of circulating antibodies to goblet cells. These can be demonstrated using…
Malabsorption Syndromes Malabsorption results from premucosal, mucosal, and postmucosal diseases (Table 6.26). In premucosal diseases, defective digestion and absorption results from pancreatic or other systemic diseases and reduced bile salt…
Congenital Abnormalities Intestinal Malpositions Intestinal malpositions include disorders of malrotation, malfixation, reversed rotation, incomplete rotations, fixation abnormalities, and situs inversus. Intestinal malrotations or nonrotations (Fig. 6.44) result from disordered or…
Tufting Enteropathy Tufting enteropathy is a chronic watery diarrhea syndrome presenting in the first few months of life. Rarely, the disease develops in older patients. Its etiology is unknown. The…
Lymphocytic and Collagenous Enteritis Lymphocytic duodenitis and enteritis are conditions in which the number of intraepithelial lymphocytes is increased in areas away from the lymphoid follicles. IELs are phenotypically heterogeneous….
