A female with chronic diarrhoea and loss of weight Essays - Medicine

A female with chronic diarrhoea and loss of weight Essays - Medicine A female with chronic diarrhoea and loss of weight : Analysis of a case : A 25-year- old female, Valli, from Chennai, India , visited the medical outpatient department for complaints of diarrhoea and flatulence off and on for the past 5 years , more so since 3 months . She said that she had lost a considerable amount of weight and always felt weak and exhausted. She also admitted having low backache since 3 months. She said her faeces were bulky, greasy and foul smelling. Throughout childhood, she had persistent diarrhoea but the symptoms subsided in adolescence. She was referred to a gastroenterologist. The consultant arranged for blood and faecal analyses. The faecal tests showed that she had steatorrhoea and the blood examination revealed a dimorphic anaemia with a low serum calcium. Her serum electrolytes and prothrombin time were within normal limits. The consultant suspected coeliac disease and arranged for an endoscopy. An endoscopic biopsy of the mucosa taken showed flattening of the villi with excess of plasma cells in the submucosa. What is coeliac disease? It is an abnormal reaction to gluten, a constituent of wheat flour, leading on to diarrhea and malabsorption. It is also called gluten-sensitive enteropathy, with the onset of symptoms occurring at ages ranging from the first year of life through the eighth decade What is the basic defect in this condition? The basic defect is enterocyte damage causing atrophy of the villi and malabsorption caused by Gluten, a constituent of wheat flour. The damage is due to an abnormal immune response to gliadins ,especially -gliadin, components of gluten. What is its aetiology? It is genetic, immunologic and environmental. It is a T-cell mediated disease. Antibodies to the enzyme transglutaminase released in tissues during inflammation are present in 98 %.Deamidation of gliadin by transglutaminase generates a recognition site for CD4 T lymphocytes; the locally activated lymphocytes trigger production of cytokines which then cause the damage. Gliadin peptides interact with gliadin-specific T cells that mediate tissue injury and induce the release of one or more cytokines (e.g., IFN-) that cause tissue injury. Transglutaminase antibodies also affect the differentiation of epithelial cells, by interfering with the action of the enzyme. What is the HLA associated with celiac disease? All patients express the HLA-DQ2 or HLA-DQ8 allele, though only a minority of people expressing DQ2/DQ8 have celiac disease. Absence of DQ2/DQ8 excludes the diagnosis of celiac disease What are the clinical features? The symptoms of celiac disease may appear with the introduction of cereals in an infant's diet, although spontaneous remissions often occur during the second decade of life that may be either permanent or followed by the reappearance of symptoms over several years. Alternatively, the symptoms of celiac disease may first become evident at almost any age throughout adulthood. In many patients, frequent spontaneous remissions and exacerbations occur. The symptoms range from significant malabsorption of multiple nutrients, with diarrhea, steatorrhea, weight loss, and the consequences of nutrient depletion (i.e., anemia and metabolic bone disease), to the absence of any gastrointestinal symptoms but with evidence of the depletion of a single nutrient (e.g., iron or folate deficiency, osteomalacia, edema from protein loss). Some have manifestations that are not obviously related to intestinal malabsorption, e.g., anemia, osteopenia, infertility, neurologic symptoms ("atypical celiac disease"); while an even larger group are essentially asymptomatic though with abnormal small intestinal histopathology and serologies and are referred to as "silent' celiac disease. What are the likely causes of diarrhoea in coeliac disease? High concentrations of unabsorbed nutrients in the chime would lead to osmotic diarrhea.However the delivery of large amounts of fat into the colon can result in the production of hydroxylated fatty acidsby colonic bacteria. These act as cathartics. Diarrhea may be secondary to (1) steatorrhea, which is primarily a result of the changes in jejunal mucosal function; (2) secondary lactase deficiency, a consequence of changes in jejunal brush border enzymatic function; (3) bile acid malabsorption resulting in bile acid-induced fluid secretion in the colon, in cases with more extensive disease involving the ileum; and (4) endogenous fluid secretion resulting from crypt hyperplasia. How do you arrive at a diagnosis? A small-intestinal biopsy is required to establish a diagnosis of celiac disease. The classical changes seen on duodenal/jejunal biopsy are restricted to the mucosa and include (1) an increase in the