describe the physiological basis lactose intolerance and malabsorption syndrome

Definition
Lactose intolerance refers to the inability of the body to digest lactose.

Description
Lactose is the predominant form of sugar present in milk. The enzyme lactase, which is normally produced by cells lining the small intestine, breaks down lactose into substances that can be absorbed into the bloodstream. When dairy products are ingested, the lactose reaches the digestive system and is broken down by lactase into the simpler sugars glucose and galactose, which can then be absorbed into the bloodstream. Lactose intolerance occurs when, due to a deficiency of lactase, lactose is not completely broken down and consequently blood sugar levels do not rise. While not usually a dangerous condition, lactose intolerance can cause severe discomfort. Lactose intolerance is also referred to as lactase deficiency, milk intolerance, dairy product intolerance, or disaccharidase deficiency.

Demographics
From 30 to 50 million Americans suffer from the symptoms of lactose intolerance by the age of 20. People from cultures in which adult consumption of milk and milk products occurred earliest are less likely to be lactose intolerant than people from areas where dairy farming began more recently. The prevalence of deficiency in production of the lactase enzyme, therefore, varies among different ethnic groups. Among Asian populations it is almost 100 percent, with symptoms occurring around the age of five; among Native Americans it is 80 percent; among blacks it is 70 percent, with symptoms appearing by the age of 10; and among American Caucasians, the prevalence of lactose intolerance is only 20 percent. However, individuals who are mildly or moderately deficient in the production of the lactase enzyme may not exhibit symptoms of lactose intolerance.

Causes and Symptoms

Lactose intolerance can be caused by some diseases of the digestive system (for example, celiac sprue and gastroenteritis) and by injuries to the small intestine that result in a decreased production of lactase. While rare, some children are also born unable to produce the enzyme. For most people, however, lactase deficiency develops naturally because, after about two years of age, the body produces less lactase. Before humans became dairy farmers, they usually did not continue to drink milk, so their bodies did not produce lactase after early childhood. Symptoms of lactose intolerance include nausea, cramps, diarrhea, floating and foul-smelling stools, bloating, and intestinal gas. The symptoms usually occur between 30 minutes to two hours after eating or drinking lactose-containing foods. A child may also exhibit weight loss, slow growth, and malnutrition.

When to Call the Doctor

If a child develops symptoms of lactose intolerance, the doctor should be consulted concerning dietary substitutions.

Diagnosis
To diagnosis lactose intolerance, usually healthcare professionals measure the absorption of lactose in the digestive system by using the lactose tolerance test, the hydrogen breath test, or the stool acidity test. Each of these can be performed as an outpatient in a hospital, clinic, or doctor's office. Children who are to take the lactose tolerance test must fast before being tested. They then drink a lactose-containing liquid for the test; medical personnel take blood samples during the next two hours to measure the children's blood glucose level. The blood glucose level, or blood sugar level, indicates how well the body is digesting the lactose. A diagnosis of lactose intolerance is confirmed

when blood glucose level does not rise. This test is not administered to infants and very young children because of the risk of dehydration from drinking the lactose-containing liquid, which can cause diarrhea in those who are lactose intolerant, resulting in dehydration. Hydrogen is usually detected only in small amounts in the breath. However, when undigested lactose found in the colon is fermented by bacteria, hydrogen in the breath is produced in greater quantities. The hydrogen is exhaled after being absorbed from the intestines and carried through the bloodstream to the lungs. The hydrogen breath test involves having the child drink a lactosecontaining beverage. Healthcare professionals monitor the breath at regular intervals to see if the hydrogen levels rise, which indicates improper lactose digestion. Children taking the test who have had certain foods, medications, or cigarettes before the test may get inaccurate results. While the test is useful for children and adults, infants and young children should not take it because of the risk of dehydration from diarrhea in those who are lactose intolerant. The stool acidity test measures the amount of acid in the stool. This is a safe test for newborns and young children. The test detects lactic acid and other short-chain fatty acids from undigested lactose fermented by bacteria in the colon. Glucose may also be found in the stool sample, resulting from unabsorbed lactose in the colon. Some parents may try to self-diagnose lactose intolerance in their child by using an elimination diet, a diet that eliminates obvious milk and milk products. However, because there are so many food products that may contain hidden sources of milk, such a diet should be supervised by a dietician or developed by following a guide to a lactose-eliminating diet. A simpler way to self-diagnose lactose intolerance is by a milk challenge. The child fasts overnight, drinks a glass of milk in the morning, and then fasts for the next three to five hours. If the child is lactose intolerant, the child should experience symptoms within several hours. If symptoms do occur, the child should be evaluated by a healthcare professional to rule out the possibility of a milk allergy. However, milk allergies are rare and usually only occurs in infants and young children.

Treatment
Since there is no treatment that can improve the body's ability to produce lactase, treatment for lactose deficiency is focused on controlling the diet. Most children affected by lactose intolerance do well if they limit their intake of lactose-containing food and drinks. Individuals differ in the amounts they can handle before experiencing symptoms. Many children may only need to eliminate major milk-containing products from their diet, while others who are intolerant to even small amounts of lactose may be required to follow severe dietary restrictions. Foods that contain lactose include milk, low-fat milk, skim milk, chocolate milk, buttermilk, sweetened condensed milk, dried whole milk, instant nonfat dry milk, low-fat yogurts, frozen yogurt, ice cream, ice milk, sherbet, cheese, cottage cheese, low-fat cottage cheese, cream, and butter. Other foods that may contain hidden lactose are: nondairy creamers, powdered artificial sweeteners, foods containing milk power or nonfat milk solids, bread, cake, margarine, creamed soups, pancakes, waffles, processed breakfast cereals, salad dressings, lunch meats, puddings, custards, confections, and some meat products. Lactose is also used as the base for more than 20 percent of prescription drugs and 6 percent of over-the-counter drugs. For infants younger than two years of age, soy formulas are adequate substitutes for milk. Toddlers may drink rice or soymilk, while older children who are sensitive to lactose can take lactase enzymes, which are available without a prescription. Using the liquid form of lactase enzymes, children can add a few drops in their milk, put the milk in the refrigerator and drink it after 24 hours, when the lactase enzymes have reduced the lactose content by 70 percent. If the milk is heated first and double the amount of lactase liquid enzymes is added, the milk will be 90 percent lactose-free. Supermarkets also carry lactose-reduced milk and other products, which contain nutrients found in the regular products but without the lactose. In the early 2000s, researchers have developed a chewable lactase enzyme tablet. Taking three to six tablets just before eating helps some children digest lactose-containing solid foods.

Nutritional Concerns

Eliminating milk from the diet can result in deficiencies of calcium, vitamin D, riboflavin, and protein. Milk substitutes for children are a necessity, as other sources of calcium are required. Fermented milk products such as yogurt are often tolerated. Buttermilk and cheeses have less lactose than milk. Goat's milk can sometimes be tolerated but should be consumed with meals.

Prognosis
Lactose intolerance is easy to manage and is not considered dangerous. People of all ages, but especially children, have to replace the calcium that is lost by cutting back on milk products; this can be accomplished by taking supplements and eating calcium-rich foods, such as broccoli, kale, canned salmon with bones, calcium-fortified foods, and tofu. They may also add lactase enzymes to dairy products to reduce lactose content as well as use lactose-reduced dairy products. Many children who suffer with lactose intolerance are able to continue eating some milk products.

Prevention
Often lactose intolerance is a natural occurrence that cannot be avoided. However, people can prevent symptoms by managing the condition with diet and lactase supplements.

Parental Concerns
Parents must guard the health of a child who is lactose intolerant by carefully managing the child's diet to avoid foods that will result in symptoms while providing foods that contain necessary nutrients for the child's health and growth

Malabsorption is a state arising from abnormality in absorption of food nutrients across the gastrointestinal (GI) tract. Impairment can be of single or multiple nutrients depending on the abnormality. This may lead to malnutrition and a variety of anaemias

Classification
Some prefer to classify malabsorption clinically into three basic categories: [2] (1) selective, as seen in lactose malabsorption; (2) partial, as observed in a-Beta-lipoproteinaemia, and (3) total as in coeliac disease. ]Pathophysiology The main purpose of the gastrointestinal tract is to digest and absorb nutrients (fat, carbohydrate, protein, and fiber), micronutrients (vitamins and trace minerals), water, and electrolytes. Digestioninvolves both mechanical and enzymatic breakdown of food. Mechanical processes include chewing, gastric churning, and the to-and-fro mixing in the small intestine. Enzymatic hydrolysis is initiated by intraluminal processes requiring gastric, pancreatic, and biliary secretions. The final products of digestion are absorbed through the intestinal epithelial cells.

Malabsorption constitutes the pathological interference with the normal physiological sequence of digestion (intraluminal process), absorption (mucosal process) and transport (postmucosal events) of nutrients. Intestinal malabsorption can be due to:       Mucosal damage (enteropathy) Congenital or acquired reduction in absorptive surface Defects of specific hydrolysis Defects of ion transport Pancreatic insufficiency Impaired enterohepatic circulation
[4] [3]

[]Causes Due to infective agents Whipple's disease Intestinal tuberculosis HIV related malabsorption Tropical sprue traveller's diarrhoea Parasites e.g. Giardia lamblia, fish tape worm (B12 malabsorption); roundworm , hookworm (Ancylostoma duodenale and Necator americanus) Due to structural defects[5] Blind loops Inflammatory bowel diseases commonly in Crohn's Disease Intestinal hurry from Post-gastrectomy; post-vagotomy, gastro-jejunostomy Fistulae, diverticulae and strictures, Infiltrative conditions such as amyloidosis, lymphoma, Eosinophilic gastroenteropathy    Radiation enteritis Systemic sclerosis and collagen vascular diseases Short bowel syndrome

     

    

Due to mucosal abnormality Coeliac disease Cows' milk intolerance

 

 

Soya milk intolerance Fructose malabsorption

Due to enzyme deficiencies Lactase deficiency inducing lactose intolerance (constitutional, secondary or rarely congenital)    Sucrose intolerance Intestinal disaccharidase deficiency Intestinal enteropeptidase deficiency

Due to digestive failure Pancreatic insufficiencies:      cystic fibrosis chronic pancreatitis carcinoma of pancreas Zollinger-Ellison syndrome

Bile salt malabsorption     terminal ileal disease obstructive jaundice bacterial overgrowth primary bile acid diarrhea

Due to other systemic diseases affecting GI tract Coeliac disease Hypothyroidism and hyperthyroidism Addison's disease Diabetes mellitus Hyperparathyroidism and Hypoparathyroidism Carcinoid syndrome Malnutrition Fiber Deficiency Abeta-lipoproteinaemia

        

]Clinical

features

Small intestine : major site of absorption

They can occur in a variety of ways and features might give a clue to the underlying condition. Symptoms can be intestinal or extra-intestinal - the former predominates in severe malabsorption.

Diarrhoea, often steatorrhoea is the most common feature. Watery, diurnal and nocturnal, bulky, frequent stools are the clinical hallmark of overt malabsorption. It is due to impaired water, carbohydrate and electrolyte absorption or irritation from unabsorbed fatty acid. Latter also results in bloating, flatulence and abdominal discomfort. Cramping pain usually suggests obstructive intestinal segment e.g. in Crohn's disease, especially if it persists after defecation.
[3]

   

Weight loss can be significant despite increased oral intake of nutrients. Growth retardation, failure to thrive, delayed puberty in children Swelling or oedema from loss of protein Anaemias, commonly from vitamin B12, folic acid and iron deficiency presenting as fatigue and weakness.

[6]

Muscle cramp from decreased vitamin D, calcium absorption. Also lead to osteomalacia and osteoporosis

Bleeding tendencies from vitamin K and other coagulation factor deficiencies.

]Diagnosis There is no specific test for malabsorption. As for most medical conditions, investigation is guided by symptoms and signs. A range of different conditions can produce malabsorption and it is necessary to look for each of these specifically. Many tests have been advocated, and some, such as tests for pancreatic function are complex, vary between centres and have not been widely adopted. However, better tests have become available with greater ease of use, better sensitivity and specificity for the causative conditions. Test are also needed to detect the systemic effects of deficiency of the malabsorbed nutrients (such as anaemia with vitamin B12 malabsorption). ]Blood

tests

Routine blood tests may reveal anaemia, high ESR and CRP or low albumin; which shows a high correlation for the presence of an organic disease.
[7][8]

In this setting, microcytic anaemia usually implies iron

deficiency and macrocytosis can be caused by impaired folic acid or B12 absorption or both. Low cholesterol or triglyceride may give a clue toward fat malabsorption as low calcium and phosphate toward osteomalacia from low vitamin D.  Specific vitamins like vitamin D or micro nutrient like zinc levels can be checked. Fat soluble vitamins (A, D, E & K) are affected in fat

malabsorption. Prolonged prothrombin time can be caused byvitamin K deficiency.  Serological studies

Specific tests are carried out to determine the underlying cause. IgA Anti-transglutaminase antibodies or IgA Anti-endomysial antibodies for Coeliac disease(gluten sensitive enteropathy). ]Stool

studies

Microscopy is particularly useful in diarrhoea, may show protozoa like Giardia, ova, cyst and other infective agents.

Fecal fat study to diagnose steatorrhoea is rarely performed nowadays.

Low fecal pancreatic elastase is indicative of pancreatic insufficiency. Chymotrypsin and pancreolauryl can be assessed as well
[9]

]Radiological

studies

Barium follow through is useful in delineating small intestinal anatomy. Barium enema may be undertaken to see colonic or ileal lesions.

CT abdomen is useful in ruling out structural abnormality, done in pancreatic protocol when visualising pancreas.

Magnetic resonance cholangiopancreatography (MRCP) to complement or as an alternative to ERCP

]Interventional

studies

Biopsy of small bowel showing coeliac disease manifested by blunting of villi, crypthyperplasia, and lymphocyte infiltration of crypts.

OGD to detect duodenal pathology and obtain D2 biopsy (for coeliac disease, tropical sprue, Whipple's disease, abetalipoproteinaemia etc.)

Enteroscopy for enteropathy and jejunal aspirate and culture for bacterial overgrowth

Capsule Endoscopy is able to visualise the whole small intestine and is occasionally useful.

 

Colonoscopy is necessary in colonic and ileal disease. ERCP will show pancreatic and biliary structural abnormalities.

]Other

investigations

75

SeHCAT test to diagnose bile acid malabsorption in ileal disease

or primary bile acid diarrhea.    Glucose hydrogen breath test for bacterial overgrowth Lactose hydrogen breath test for lactose intolerance Sugar probes or
51

Cr-EDTA to determine intestinal permeability.

[3]

]Obsolete

tests no longer used clinically

D-xylose absorption test for mucosal disease or bacterial overgrowth. Normal in pancreatic insufficiency.

Bile salt breath test (14C-glycocholate) to determine bile salt malabsorption.

Schilling test to establish cause of B12 deficiency.

]Management Treatment is directed largely towards management of underlying cause:  Replacement of nutrients, electrolytes and fluid may be necessary. In severe deficiency, hospital admission may be required for parenteral administration, often advice from dietitian is sought. People whose absorptive surface are severely limited from disease or surgery may need long term total parenteral nutrition.   Pancreatic enzymes are supplemented orally in insufficiencies. Dietary modification is important in some conditions:     Gluten-free diet in coeliac disease. Lactose avoidance in lactose intolerance.

Antibiotic therapy will treat Small Bowel Bacterial overgrowth. Cholestyramine or other bile acid sequestrants will help reducing diarrhoea in bile acid malabsorption.

]See

also

 

Fructose malabsorption Protein losing enteropathy