Malabsorption Syndrome Malabsorption Is inadequate assimilation of dietary substances due to defects in digestion,absorption, or transport. Malabsorption affects macronutrients (e.g.

, proteins, carbohydrates, fats) or micronutrients (e.g., vitamins, minerals), causing excessive fecal excretion and producing nutritionaldeficiencies and GI symptoms. Malabsorption Syndrome A group of symptoms resulting from disorders in the intestines' ability toabsorb nutrients from foods eaten. It may lead to loss of appetite, weight loss, swollen abdomen,muscle cramps, bone pain, and fat in the feces. Anemia, weakness, and tiredness can occur becauseiron, folic acid, and vitamin B12are not absorbed in right amounts. Among the many conditionscausing this syndrome are stomach or small bowel surgery, celiac disease, tropical sprue, cysticfibrosis, Whipple's disease, and intestinal lymphangiectasia, a disease involving the grouping of thelymph ducts in the intestines Pathophysiology:

rates,inflammatory bowel disease and even prolonged and excessive stress B) Faulty absorption of nutrients due to: - Damage to the absorptive surfaces, as in inflammatory bowel disease and coeliac diseaseImpaired enzyme activity e.g. in lactose intolerance- Resection of the absorptive surfaces e.g. in inflammatory bowel disease. The Major Malabsorption Syndromes: (1)Exocrine Pancreatic Insufficiency(EPI) Its the inability to properly digest food due to a lack of digestive enzymes made by the pancreas. EPIis found in patient afflicted with cystic fibrosis. It is caused by a progressive loss of the pancreaticcells that make digestive enzymes. Chronic pancreatitis is the most common cause of EPI in humans. Treatment Often this is treated with Pancreatic Enzyme Products (PEPs), such as pancrelipase, that are used to breakdown fats (lipases), proteins (proteases) and carbohydrates (amylases) into units that can bedigested by those with EPI.

(2)Biliary Obstruction: Digestion and absorption occur in three phases: (1) intraluminal hydrolysis of fats, proteins, andcarbohydrates by enzymes (bile salts enhance the solubilization of fat in this phase) (2) digestion by brush border enzymes and uptake of end-products; (3) lymphatic transport of nutrients. Malabsorptionoccurs when any of these phases is impaired. Causes: A) Incomplete digestive process, which may be due to: - Damage or dysfunction of the pancreasReduction or absence of bile salts to emulsify fats for absorption; this can occur in billiaryobstruction, liver disease or extensive resection of the small bowel- Excessive transit time, impairing optimal absorption; this can occur in disorders of metabolic Biliary obstruction refers to the blockage of any duct that carries bile from the liver to the gallbladder or from the gallbladder to the small intestine. Biliary obstruction separated into: (I) Intrahepatic Intrahepatic cholestasis generally occurs at the level of the hepatocyte or biliary canalicular membrane. Causes include hepatocellular disease (e.g., viral hepatitis, druginduced hepatitis), drug-induced cholestasis, biliary cirrhosis, and alcoholic liver disease. (II) Extrahepatic Extrahepatic obstruction to the flow of bile may occur within the ducts or secondary to externalcompression. Overall, gallstones are the most common cause of biliary obstruction. (3)Lactose Intolerance:

A disorder characterize by the inability to digest milk sugar (lactose) because of an enzyme lactasedeficiency. There are three major types of lactose intolerance: 1. Primary lactose intolerance : Environmentally induced by weaning in non dairy consumingsocieties. Where industrialized and commercial dairy is uncommon, milk consumption beyondinfancy is not common.2. Secondary lactose intolerance : Environmentally induced, resulting from certain gastrointestinaldiseases, including exposure to intestinal parasites such as giardia.3. Congenital lactase deficiency : A genetic disorder which prevents enzymatic production of lactase.Present at birth, and diagnosed in early infancy. Symptoms and Signs: The effects of unabsorbed substances include diarrhea, steatorrhea, abdominal bloating, and gas.Other symptoms result from nutritional deficiencies. Patients often lose weight despite adequate foodintake.Chronic diarrhea is the most common symptom. Steatorrhea is the hallmark of malabsorption.Steatorrhea produces foul-smelling, pale, bulky, and greasy stools.Severe vitamin and mineral deficiencies occur in advanced malabsorption symptoms are related to thespecific nutrient deficiency. Treatment: The diet must be adjusted to restrict such foods as milk, cheese, butter, and any other productscontaining milk (4)Coeliac Disease (Non-Tropical Sprue, Coeliac Sprue) Its an autoimmune disorder of the small bowel that occurs in genetically predisposed people of allages. Coeliac disease is caused by a reaction to gluten(protein found inwheat).Upon exposure to gluten, the enzyme tissue transglutaminase modifies the protein, and the immune system cross-reacts with the bowel tissue, causing an inflammatory reaction.That leads to flattening of the lining of the small intestine, which interferes with the absorption of nutrients. Symptoms and Signs:

Classic symptoms of coeliac disease include diarrhea, weight loss (or stunted growth in children), and fatigue. Children between 9 and 24 months tend to present with bowel symptoms and growth problems shortly after first exposure to gluten-containing products. Older children may have more malabsorption-related problems and psychosocial problems, while adults generally have malabsorptive problems. Many adults with subtle disease only have fatigue or anemia. Worth note Tropical Sprue has similar symptoms but it differs in the cause which is unknown. It has been suggested that it is caused by bacterial, viral, amoebal, or parasitic infection. Tropical sprue is largely limited to within about 30 degrees north and south of the equator. Therefore, if one resides outside of that geographical region, recent travel to the region is a key factor in diagnosing this disease. Treatment The only effective treatment is a lifelong glutenTreatment for Tropical sprue: Once diagnosed, tropical sprue can be treated by a course of the antibiotic tetracycline and vitamins B12 and folic acid for at least 6 months. (5)Idiopathic Inflammatory Bowel Disease: Crohns disease and ulcerative colitis are chronic relapsing disorders of unknown origin. These diseases share many common features and are collectively known as idiopathic inflammatory bowel disease (I)Ulcerative Colitis (Colitis Ulcerosa, UC) Ulcerative colitis (UC) is an ulceroinflammatory disease affecting the colon but limited to the mucosa and submucosa except in the most severe cases. UC begins in the rectum and extends proximally in a continuous fashion, sometimes involving the entire colon. Ulcerative colitis is an intermittent disease, with periods of exacerbated symptoms, and periods that are relatively symptom-free. Symptoms and Signs: Patients usually present with diarrhea mixed with blood and mucus, of gradual onset. They also may have signs of weight loss, and blood on rectal examination. The disease is usually accompanied with different degrees of abdominal pain, from mild discomfort to severely painful cramps. Ulcerative colitis is

a systemic disease that affects many parts of the body. Sometimes the extra-intestinal manifestations of the disease are the initial signs, such as painful, arthritic knees in teenager. It is, however, unlikely that the disease will be correctly diagnosed until the onset of the intestinal manifestations Treatment Physicians first direct treatment to inducing a remission which involves relief of symptoms and mucosal healing of the lining of the colon and then longer term treatment to maintain the remission. (II)Crohn's Disease (Regional Enteritis, CD) It is one of a group of diseases called inflammatory bowel disease. The disease can affect any area from the mouth to the anus; as a result, the symptoms of Crohn's disease vary between affected individuals (often affects the ileum).Although the cause of Crohn's disease is not known, it is believed to be an autoimmune that is genetically linked. There are three major classes of Crohns disease: 1. Ileocolic Crohn's Disease, which affects both the ileum and the large intestine, accounts for 50%of cases 2. Crohn's Ileitis Affecting the ileum only, accounts for 30% of cases, and 3. Crohn's Colitis Affecting the large intestine, accounts for the remaining 20% of cases Symptoms and Signs: Pain may be the initial symptom of Crohn's disease. It is often accompanied by diarrhea which may or may not be bloody. Flatus and bloating may also add to the intestinal discomfort. Treatment: Treatment is only needed for people exhibiting symptoms. The therapeutic approach to Crohn'sdisease is sequential: to treat acute disease and then to maintain remission. Once remission is induced, the goal of treatment becomes maintaining remission and avoiding flares. Surgery may be required for

complications such as obstructions, fistulas and/or abscesses, or if the disease does not respond to drugs within a reasonable time. Malabsorption is a failure to fully absorb nutrients from the gastrointestinal tract. There are many causes including abnormalities of the gut wall, failure to produce digestive enzymes and abnormalities of gut flora. The outcome is malnutrition. Malnutrition may also be caused by inadequate diet with or without malabsorption. Clinical features Malabsorption, from whatever cause, may be accompanied by:

Changes in weight and growth: Inadequate absorption of calories will lead to loss of weight in adults or stunting of growth in children. Adults will complain of unintentional weight loss and perhaps tiredness, lethargy and fatigue. Children may have similar symptoms accompanied by failure to thrive with growth failure (falling through the centile charts for height and weight). Gastrointestinal symptoms: Chronic diarrhoea is common. Chronic diarrhoea may be defined as the abnormal passage of three or more loose or liquid stools per day for more than four weeks and/or a daily stool weight greater than 200 g/day. Steatorrhoea is often present. There is excessive fat in the stools and they become pale, bulky and offensive in smell. Stools float and are difficult to

flush away. They often leave a greasy rim around the pan. Signs of deficiencies may be apparent: There may be non-anaemic iron deficiency. Iron deficiency anaemia Folate deficiency or vitamin B12 deficiency. Bleeding may result from low vitamin K. Oedema occurs in protein/ calorie malnutrition.

There may also be clinical features associated with the particular cause of malabsorption. The commonest causes in the UK are coeliac disease, Crohn's disease and chronic pancreatitis. Causes of malabsorption Mucosal causes Coeliac disease usually presents in childhood but can present later. It is due to allergy to gluten in the diet that results in subtotal villous atrophy. This considerably reduces the surface area available for absorption. A diet strictly free of gluten will reverse the process. Nowadays, about 1 child in 4 with coeliac disease is diagnosed by targeted screening rather than presenting with malabsorption.[1] [ ] Cows' milk intolerance. 2 Soya milk intolerance. Infection: Immune deficiency. In HIV infection, malnutrition is nearly as important as opportunistic infection, especially in countries with access to HAART.[3] Giardiasis. Whipple's disease. Intestinal tuberculosis. Tropical sprue. Traveller's diarrhoea.

Diphyllobothriasis (tapeworm can cause B12 malabsorption). Ancylostomiasis (Hook worm). Strongyloidiasis (nematode). In patients with an inflammatory bowel disorder and malabsorption, an immune deficiency should be considered.[4] Intestinal lymphectasia and other causes of lymphatic obstruction include lymphoma, tuberculosis and cardiac disease. Intraluminal causes Pancreatic insufficiency: Cystic fibrosis usually presents in children who have respiratory problems, although the malabsorption may be the presenting feature. Sweat test will be positive. Chronic pancreatitis can cause both inadequacy of enzyme production and bicarbonate secretion.[5] It often follows attacks of acute pancreatitis and years ofalcohol abuse. Plain abdominal x-ray may show calcification of the pancreas. Carcinoma of pancreas. Zollinger-Ellison syndrome. Defective secretions of bile salts due to cholestatic jaundice or disease of the terminal ileum. Drugs. Structural causes Intestinal hurry: Post gastrectomy Post vagotomy Gastrojejunostomy The blind loop syndrome involves disturbance normal of gut flora with malabsorption. This can occur after surgery for peptic ulcer such as Billroth II or Polya gastrectomy. These operations have rarely been required since about 1980 with the modern management of peptic ulcer disease but the effects may not be manifest

for many years. Abnormalities of bowel flora causing malabsorption can occur in immune deficiencies.[4] Fistulae. Diverticulae and strictures. Crohn's disease. Amyloidosis. [ ] Short bowel syndrome. 6 Eosinophilic gastroenteropathy. Mesenteric arterial insufficiency. Radiation enteritis. Causes outside the gut Hyperthyroidism Hypothyroidism Addisons' disease Diabetes mellitus Hyperparathyroidism Hypoparathyroidism Carcinoid syndrome Widespread skin disease (rapid cell turnover may also affect gut mucosa) Malnutrition Collagen diseases Eating disorders Factitious diarrhoea due to purgative abuse In the elderly, causes of malabsorption are as in the young but pancreatic insufficiencycan occur without obvious cause and intestinal overgrowth can occur without anatomical abnormality of the bowel.[7] Investigations The British Society of Gastroenterology have produced guidelines for the investigation of chronic diarrhoea. 8 Blood tests FBC Plasma viscosity Vitamin B12 level Red cell folate Iron status (usually ferritin but can be iron and iron binding capacity) Clotting screen for vitamin K deficiency
[ ]

Serum albumin Calcium (corrected for albumin level) Anti-endomyseal, anti-reticulin and alphagliadin antibodies (coeliac screen) Liver function tests Serum magnesium

Iron deficiency causes a microcytic blood picture. Folate or vitamin B12 deficiency causes megaloblastic anaemia but the picture may be mixed. In those thought to have IBS, the incidence of undiagnosed coeliac disease is high but it is important not to over-investigate this group.[8] Patients with unexplained iron deficiency merit screening for coeliac disease.[9] Stool Faecal microbiological assessments may be indicated. Sudan stain for fat globules. Imaging and endoscopy Barium follow through may show structural abnormalities. Endoscopy and small bowel biopsy is very useful. ERCP may be needed (biliary tree assessment). Enteroscopy may have an increasing role. Breath hydrogen tests Take samples of end-expired air; give glucose; take more samples at half-hour intervals. If there is bacterial overgrowth there is an increase in exhaled hydrogen 1h after ingestion. This test is better than tests using radioactive 14C bile salts. Management Management depends upon the cause. For example:

Coeliac disease requires a strict gluten free diet. Pancreatic insufficiency requires the oral administration of enzymes with food. Blockage of the flow of bile requires surgery. Crohn's disease usually responds to steroids. Blind loop syndromes may require further surgery. Where bile salts are not reabsorbed, it may be necessary to give resins to bind them.[10] If there is folate deficiency and possibly B12 deficiency too, it is imperative to give an injection of vitamin B12 before starting folate supplementation. Otherwise there is a risk of precipitating subacute combined degeneration of the cord. Complications Complications are related to the underlying disease. Lassitude is common. Children will have stunted growth. Untreated coeliac disease may result in small bowel adenocarcinoma or lymphoma. Infertility is common, especially in coeliac disease. Anaemia may occur. Rickets, osteoporosis or osteomalacia may occur. Historical note Before it was superseded by endoscopy, small bowel biopsy was performed with the Crosby capsule: This is swallowed on the end of a tube, and is monitored by x-ray screening until it reaches the jejunum. It is fired by suction, and a biopsy is caught in its jaws. It is then pulled back up.