Elsevier

Pathobiology of Human Disease

A Dynamic Encyclopedia of Disease Mechanisms
2014, Pages 1266-1287
Pathobiology of Human Disease

The Malabsorption Syndrome and Its Causes and Consequences

https://doi.org/10.1016/B978-0-12-386456-7.03804-1Get rights and content

Abstract

The indication for a small intestinal biopsy is usually the work-up of malabsorption, a clinicopathologic picture caused by a number of infectious and noninfectious inflammatory conditions. The biopsy is generally taken through an endoscope, by either forceps or suction, from the duodenum or proximal jejunum. Depending upon the underlying condition, morphological abnormalities are seen in malabsorption range from normal mucosa with increased intraepithelial lymphocytes (gluten-sensitive enteropathy, viral gastroenteritis, food allergies, etc.), villous shortening with crypt hyperplasia (celiac disease (CD), treated CD, tropical sprue, and bacterial overgrowth), to completely flat mucosa (CD, refractory sprue, enteropathy-induced T-cell lymphoma, and autoimmune enteropathy). Infectious agents that affect gastrointestinal tract can be grouped as food-borne and water-borne bacteria, opportunistic infections (bacterial, fungal, and viral), viral infections (extremely rarely biopsied), and parasitic and helminthic infections. The majority of these infections are, however, self-limited. Although biopsy is more invasive, the use of this procedure allows detection of other causes, including Whipple's disease, other protozoan forms of diarrhea (e.g., cryptosporidiosis, isosporiasis, or cyclosporiasis), Crohn's disease, or lymphoma that may also present as diarrhea and malabsorption.

Keywords

Bacterial overgrowth
Celiac disease
Collagenous sprue
Flat mucosa
Graft-versus-host disease
Immunodeficiency
Infections
Intraepithelial lymphocytosis
Malabsorption
Neonatal enteropathy
Opportunistic infections
Refractory sprue
Small intestine
Tropical sprue
Whipple's disease

Further Reading

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Glossary

    Autoimmune enteropathy

    This is a rare condition caused by autoantibodies to intestinal mucosa primarily affecting children who suffer from severe chronic diarrhea within the first months of life.

    Celiac disease

    Celiac disease (CD), also known as celiac sprue, nontropical sprue, gluten-induced enteropathy, or gluten-sensitive enteropathy (GSE), is a chronic inflammatory disorder of the small intestine induced by a T-cell-mediated immune response and characterized by malabsorption after ingestion of wheat gluten or related proteins in rye (secalins) and barley (hordeins) in individuals with a certain genetic background.

    Common variable immunodeficiency (CVID)

    CVID is primarily a dysfunction of B-cell differentiation resulting in hypogammaglobulinemia and diminished ability to produce antibodies.

    Deamidation

    Detachment of an amino group by tissue transglutaminase from gliadin that becomes negatively charged.

    Enteroendocrine cell dysgenesis

    This disorder is associated with neurogenin 3 mutation that is a protein involved in gut and pancreatic endocrine cell development, located on chromosome 10q21.3.

    Enteropathy-induced T-cell lymphoma (EITCL)

    This high-grade T-cell lymphoma is the most fearsome complication of CD in patients with long-standing malabsorption.

    Eosinophilic gastroenteritis

    This is a spectrum of diseases characterized by eosinophilic infiltration of various segments of the GI tract together with peripheral eosinophilia and coexisting allergies.

    Graft-versus-host disease (GVHD)

    Donor T cells of cytotoxic subtype incite an immunologic reaction to certain host cells resulting in injury to GI mucosa. Gastrointestinal complications are common in bone marrow transplant recipients rather than solid organ transplantation.

    Intestinal lymphangiectasia

    Intestinal lymphangiectasia is defined as the presence of dilated lymphatics within the intestinal mucosa. It can be either primary due to a structural abnormality of the lymphatic system or secondary due to a local neoplastic or inflammatory condition causing lymphatic obstruction.

    Intraepithelial lymphocyte

    T cell residing in the surface epithelium bearing T-cell receptors. The majority of IELs are T cells, which are mostly cytotoxic T cells expressing αβ TCR on their surface. The population specifically expanded in GSE is the CD3 +/CD4 −/CD8 −, γδ TCR-bearing IELs, which is only 5% of the total in normal mucosa.

    Intraepithelial lymphocytosis

    Less than 20 intraepithelial lymphocytes/100 enterocytes. Characteristic finding in celiac disease but may also be found in a variety of intestinal disorders causing malabsorption.

    Malabsorption

    Malabsorption syndrome refers to the clinical picture comprising diarrhea, steatorrhea, malnutrition, weight loss, abdominal pain, and anemia due to maldigestion, mucosal/mural problems, or infections.

    Microvillus inclusion disease (MVID)

    MVID is an uncommon congenital enteropathy characterized by severe, intractable diarrhea within the first week of life due to defective MYO5B gene located on 18q21 encoding myosin Vb that regulates distribution of endosomes. It is characterized by loss of microvilli and numerous microvillus inclusions in the apical cytoplasm of the enterocytes.

    Neonatal enteropathy

    Severe intractable chronic (> 2–3 weeks) diarrhea starting immediately after birth and resulting in failure to thrive of the infant.

    Peptic duodenal disease

    This represents a continuum of the same disease process of acute and chronic inflammation of the duodenal mucosa resulting from the toxic effects of excess gastric acid. Chronic H. pylori infection is highly associated with peptic disease of the duodenum in more than 80% of the cases.

    Refractory sprue

    Refractory sprue is defined as incomplete or no response to GFD for at least 6 months. It can be either primary, as lack of initial response to diet, or secondary, as unresponsiveness to diet in the form of a relapse. Primary refractory sprue can include many different pathological conditions mimicking CD, comprising collagenous sprue, ulcerative jejunitis, lymphocytic colitis, collagenous colitis, and EITCL.

    Small intestinal bacterial overgrowth (SIBO)

    Stasis caused by motor/neural disorders such as diabetes and scleroderma, diverticula, and surgical anastomoses results in abnormal proliferation of facultative aerobe bacteria normally colonized in the intestinal lumen.

    Tissue transglutaminase

    The enzyme found in the lamina propria beneath the surface epithelium of small intestinal mucosa that removes an amino group from gliadin (deamidation) and adds the remainder of the peptide to the existing protein.

    Tropical (postinfectious) sprue

    This is a rare disorder of unknown etiology, mainly occurring among residents or visitors to the tropical countries. Malabsorption is usually initiated by an infection followed by colonization of the small bowel by enterotoxigenic bacteria.

    Tufting enteropathy (TE)

    TE causes severe diarrhea in the first week of life together with various dysmorphic features including choanal atresia and esophageal/rectal atresia in some of the affected infants. EpCAM mutations on chromosome 2p21 have recently been suggested as the responsible genetic abnormalities. It is characterized by epithelial tufts or buds along the luminal aspect of the enterocytes.

Arzu Ensari finished her training in pathology in Ankara and went to the United Kingdom for a PhD on ‘cellular and molecular pathology of gluten sensitivity’ under the supervision of Dr. Michael N. Marsh. She worked with Prof. Yo Kato (Japan) and Prof. Robert Riddell (Canada) on GI cancers and IBD. She was the former chair of the GI pathology working group of ESP. She is a faculty member of EScoP GI pathology working team. She is currently working as a full-time professor in the Department of Pathology, Ankara University Medical School. She has published many articles and book chapters, particularly on malabsorption and celiac disease.

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