Short bowel syndrome is a complex disease that occurs due to the physical loss or the loss of function of a portion of the small and/or large intestine. Consequently, individuals with short bowel syndrome often have a reduced ability to absorb nutrients such as fats, carbohydrates (sugars) vitamins, minerals, trace elements and fluids (malabsorption). The specific symptoms and severity of short bowel syndrome vary from one person to another. Diarrhea is common, often severe and can cause dehydration, which can even be life threatening. Short bowel syndrome can lead to malnutrition, unintended weight loss and additional symptoms may be due to the loss of essential vitamins and minerals. There is no cure, but the disorder usually can be treated effectively. However, in severe cases, short bowel syndrome can lead to severe, disabling and life-threatening complications. Short bowel syndrome is most commonly associated with the surgical removal (resection) of half or more of the small intestine. Such surgery is performed to treat intestinal diseases such as Crohn's disease, injury or trauma to the small bowel, or congenital birth defects. The presence or absence of the large intestine (colon) also plays an important role in the genesis and/or treatment of the short bowel syndrome.
Through the years, the definition of short bowel syndrome in the medical literature has varied. This has led to confusion. Although some medical sources seem to reserve the name short bowel syndrome for cases caused by surgical resection of a portion of the small intestine, other sources have noted that the disorder can result from any disease, injury or condition that hinders or prevents the proper function of the small intestine even if the length of the bowel is unaffected. Short bowel syndrome may be classified as a cause or subcategory of intestinal failure. In rare cases, infants are born with a short bowel (congenital short bowel syndrome). Although these congenital cases are often associated with malrotation of the small intestine, the exact cause of congenital short bowel syndrome is unknown.
The symptoms and severity of short bowel syndrome can vary greatly depending upon the length and function of the remaining or undamaged portion of the small intestine. Because short bowel syndrome can vary so greatly, it is important to note that affected individuals may not have all of the symptoms discussed below. Affected individuals or parents of affected children or infants should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.
The small intestine is a long, narrow, folded tube that extends from the stomach to the large intestine. It is the area where most of the digestion and absorption of nutrients occurs within the body. When the small intestine is damaged or lost (e.g., due to surgery), affected individuals may lose the ability to absorb sufficient amounts of water, vitamins and other nutrients from food.
The small intestine is generally divided into three main sections: the duodenum, the jejunum and the ileum. In the adult, the normal length of the small intestine is estimated at 600cm (235 inches), and the colon is about 150cm (60 inches). Individuals who have only 150-200cm of the small intestine and lack a colon may have significant fluid and nutrient losses that often require the use of intravenous fluid and/or nutrients. These sections have different functions and are associated with the absorption of specific nutrients. For example, the duodenum is the first portion of the small intestine (about 30cm or 12 inches) and is connected to the stomach. The duodenum continues the breakdown of food particles from the stomach (the process of digestion) which prepares particles to be absorbed by the intestinal lining. The duodenum also absorbs iron, calcium and magnesium as well. The jejunum is the middle portion (mid-gut) of the small intestine and is where most nutrient absorption occurs. It is about 200cm (~80 inches) in length. Carbohydrates, fats, proteins, and vitamins are all absorbed in the jejunum. The ileum is the last portion of the small intestine and is connected to the large intestine. Some products of digestion that are not absorbed by the jejunum may also be absorbed by the ileum as this area can adapt to compensate for many of the jejunal functions. The reverse is not true. As there are special binding sites for the absorption of bile acids and vitamin B12 found only in the final portion of the ileum, referred to as the terminal ileum.
Although symptoms of short bowel syndrome vary, diarrhea is common. Diarrhea can be severe and can cause dehydration, unintended weight loss, a general feeling of poor health (malaise), lethargy and eventually malnutrition. Additional symptoms include cramping, fatigue, weakness, bloating and heartburn. Individuals may have pale, greasy stools that contain excess amounts of fat (steatorrhea). Short bowel syndrome may cause malnutrition. Malnourishment can result in swelling (distention) of the abdomen, dehydration, loss of muscle mass, dry, flaky skin, swelling of the tissues of the legs and feet (peripheral edema), and weakening or wasting away of the muscle of the temples (temporal wasting) giving the temples a hollow appearance. Short bowel syndrome can lead to poor growth in infants and children due to undernutrition and lack of the proper building blocks for normal growth and development.
A wide variety of additional symptoms may be associated with short bowel syndrome depending upon the failure to absorb sufficient levels of certain vitamins or minerals. Some examples of vitamin and mineral deficiencies and their potential symptoms as listed below.
Deficiency of vitamin A can be associated with difficulties seeing at night (night blindness) and abnormal dryness and thickening of the conjunctiva and cornea (xerophthalmia). Affected individuals may develop corneal ulcerations. It also plays a role in healthy skin maintenance.
Deficiency of vitamin B can lead to a variety of conditions include inflammation of the mouth (stomatitis) and tongue (glossitis), dry scaling of the lip (cheilosis), swelling due to fluid accumulation (edema), low levels of circulating red blood cells (anemia), weakness of certain eye muscles (ophthalmoplegia), irregular heartbeats (tachycardia), damage to the nerves outside the central nervous system (peripheral neuropathy) and seizures.
Deficiency of vitamin D in children can result in rickets, a condition characterized by bow deformities of the legs, pain in the legs and progressive softening of the bone structure. In children, growth rates may also be slow, ultimately resulting in short stature. Affected individuals may be prone to fractures due to weakening of the bones. Vitamin D deficiency can cause low calcium blood levels, which can also be associated with intermittent muscle spasms (tetany) and an abnormal sensation on the skin such as a feeling of being on “pins and needles” (paresthesias).
Deficiency of vitamin E can result in paresthesias, tetany, loss of voluntary muscle coordination (ataxia), abnormal swelling due to fluid accumulation (edema), depressed deep tendon reflexes, and vision problems.
Deficiency of vitamin K can cause prolonged bleeding and a tendency to bruise easily. Affected individuals may develop small red or purple pinprick-sized spots on the skin due to bleeding (petechiae), discoloration of the skin due to bleeding underneath the surface of the skin (ecchymoses) and a rash of purple spots on the skin due to internal bleeding (purpura).
Iron deficiency may result in an unhealthy pale appearance or skin tone (pallor), inflammation of the tongue (glossitis), and abnormally spooned nails. In severe cases, it can cause weakness, fatigue, difficulty concentrating and short of breath upon exertion (dyspnea).
Zinc deficiency can result in information of the mucous membrane of the mouth (stomatitis), patchy areas of hair loss (alopecia), poor wound healing and a reddened, scaly skin rash.
Overgrowth of normal bacteria in the small intestine is common in children with short bowel syndrome, especially if they have an area of dilated small intestine with poor motility, which often happens in affected individuals. Exacerbation of bloating, diarrhea, and more severe nutrient malabsorption may occur in this setting.
Short bowel syndrome is generally broken down into individuals in whom the disorder is acquired during life and newborns in which the disorder is present at birth (congenital). Acquired short bowel syndrome is more common than the congenital form of the disorder.
Surgical removal (resection) of a portion of the small intestine is the most common cause of short bowel syndrome. However, short bowel syndrome can result from any disease, injury or condition that hinders or prevents the proper function of the small intestine, even if the overall length of the bowel is unaffected.
In infants and newborns, the most common reason for surgical resection of the small intestine is necrotizing enterocolitis, a condition characterized by tissue loss within the intestines. Specifically, the lining of the intestinal wall dies and falls off. The lining of the intestine is where absorption occurs. The cause for this tissue loss is not always understood, but usually necessitates the surgical removal of the affected portion of the small intestine. Necrotizing enterocolitis most often occurs in infants that are premature or have an underlying illness.
Additional conditions that can lead to surgical resection of a portion of the small intestine in newborns include congenital defects of the bowel such as midgut volvulus, a condition in which a portion of the bowel is twisted back around itself; omphalocele, a birth defect in which a portion of the intestine and other abdominal structures stick out from the bellybutton; gastroschisis, a birth defect in which a portion of the intestine stick out through a hole on one side of umbilical cord; and meconium ileus, a condition associated with cystic fibrosis that is characterized by obstruction of the intestine by meconium, the dark sticky substance that is normally present in the intestine at birth. Abnormal development before birth can result in narrowing (atresia) of portions of the small intestine can also result in short bowel syndrome. Certain congenital diseases of the gastrointestinal tract such as microvillus inclusion disease may cause such severe impairment of absorption as to mimic short bowel syndrome. Hirschsprung’s disease may in rare instances extend into the small intestine and can also result in short bowel syndrome.
In some cases, newborns can be born with a shortened bowel that is present at birth (congenital short bowel syndrome). The exact cause of a short bowel in these cases is not fully understood and several different theories have been proposed. More research is necessary to determine what factors ultimately lead to congenital short bowel syndrome.
In older children and adults, causes of short bowel syndrome include Crohn’s disease; folding of portion of the intestines into another portion (intussusception); damage to the small intestines because of trauma; damage to the small intestines from lack of blood flow (ischemia) due to a blocked blood vessel, diseases of the blood vessels, or overactive blood clotting disorders (hypercoagulable states); damage to the small intestine from cancer or from the treatment of cancer including surgical removal of a cancerous section of the small intestine or radiation enteritis. Radiation enteritis is damage to the lining of the intestine because of radiation therapy and can affect both the small and large intestines.
The removal or loss of a segment of the small intestine does not necessarily result in short bowel syndrome. Often, additional factors play a role in the eventual development of the disorder. Such factors include the following: the specific segment of the intestines that is lost, the remaining length of the small intestines, whether the colon is intact, whether the valve at the junction of the small and large intestines (ileocecal valve) is intact, the presence and nature of any underlying disease, and the age and overall health of the individual. Also, the remaining healthy small intestine will undergo a process of adaptation with time, and the intestinal lining may grow larger (hypertrophy) and ultimately absorb more, which may lessen an individual’s particular symptoms.
Short bowel syndrome affects males and females in equal numbers. The disorder is usually acquired during life, but in rare cases may be present at birth (congenital). In adults, short bowel syndrome usually results from the surgical removal of a portion of the small intestine. Crohn’s disease is the most frequent cause of surgical removal of the small intestine in adults. In newborns, necrotizing enterocolitis is the most common cause of surgical removal of the small intestines. The exact incidence and prevalence of short bowel syndrome in the general population is unknown.
A diagnosis of short bowel syndrome is made based upon a detailed patient history, a thorough clinical evaluation and a variety of specialized tests including laboratory tests and X-ray studies.
Clinical Testing and Work-Up
An important laboratory tests is a complete blood count (CBC), which is used to check for anemia. Additional laboratory tests may be performed to assess the levels of albumin, which may indicate poor nutritional status when low and dehydration when high; liver enzymes, which may indicate liver cell damage when persistently elevated; electrolyte abnormalities, which may indicate deficiencies or dehydration; and creatinine, which may indicate decreased function of the kidneys. Laboratory tests may also be used to detect deficiencies of vitamins or minerals, which can occur with short bowel syndrome.
Imaging techniques may be used to assess individuals with short bowel syndrome. Such tests include plain abdominal X-rays to detect signs of obstruction or ileus (paralysis of intestinal muscles), computerized tomography (CT) scanning of the abdomen (abdominal CAT scan) or an abdominal ultrasound. During CT scanning, a computer and X-rays are used to create a film showing cross-sectional images of certain tissue structures. An abdominal CAT scan enables physicians to identify problems such as bowel obstruction and assess the health of the liver. An abdominal ultrasound may be used to detect biliary sludge or gallstones, which are often associated with short bowel syndrome. An upper gastrointestinal series (a tests that examines the upper and middle portion of the gastrointestinal system) with a small bowel follow through allows physicians to detect areas of stricture (narrowing) or abnormal connections (fistulas) within the small bowels and assess the health of the lining of the small bowel.
Additional tests may be performed to detect or assess potential complications of short bowel syndrome. For example, a liver biopsy may be performed to assess the health and function of the liver. Upper and lower endoscopic studies may also help in the evaluation of the function of the remaining intestine.
The treatment of short bowel syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatric gastroenterologists, (age appropriate), surgeons, gastroenterologists, dietitians, nutritionists and other healthcare professionals may need to systematically and comprehensively plan an affected individual's treatment.
The specific therapeutic procedures and interventions for individuals with a short bowel syndrome will vary, depending upon numerous factors including the specific symptoms present, the site and extent of the affected portion of the small intestine, whether the colon is involved, an individual's age and overall health, tolerance of certain medications or procedures, personal preference and other factors. Decisions concerning the use of particular therapeutic interventions should be made by physicians and other members of the healthcare team in careful consultation with the patient and/or parents based upon the specifics of his or her case; a thorough discussion of the potential benefits and risks, including possible side effects and long-term effects; patient preference; and other appropriate factors.
Treatment options that may be used to treat individuals with short bowel syndrome are complex and varied. The specific treatment plan may be highly individualized and can include total parenteral nutrition (TPN [intravenous fluid and nutrition therapy]), enteral feeding, dietary adjustments, oral rehydration solutions, certain medications and/or surgery. Maintaining proper nutritional intake is vital for individuals with short bowel syndrome.
In mild cases, slowly increasing the oral intake of food and taking certain supplements or medications for diarrhea may be all that is required. However, in many cases TPN is necessary and, in severe cases, short bowel syndrome may potentially require a small bowel transplant. In recent years, advances in therapy including new options like recombinant growth hormones and glucagon-like peptide analogs and improvements in surgical techniques have lessened the length of time that individuals must remain on TPN.
Treatment for individuals with short bowel syndrome is specially designed to quicken or strengthen the process of intestinal adaption and to supply sufficient nutritional support. Intestinal adaption is the process by which the remaining or functional portion of the small bowel can adapt and increase its absorption to compensate for the missing or nonfunctioning segments. The amount of time intestinal adaption can take to occur is controversial. Originally, it was believed to occur only within 6 months of the loss of a portion of the small bowel. Now, many physicians believe it can occur as late as 2-3 years later. Researchers are investigating more ways to further stimulate intestinal adaption and to help the remaining small intestines to increase absorption and to function better.
After surgical removal of a portion of the small intestine, many individuals are put on TPN, which supplies all daily nutritional requirements such as protein, sugars, vitamins, minerals, trace elements and sometimes fats. TPN is a way to bypass how the body normally digests food. With TPN, a special intravenous (IV) line is inserted into a vein and nutrients are delivered directly into the bloodstream. The first dose of TPN is given hospital. Eventually, TPN can be given at home. The amount of time a person requires TPN varies. For some individuals, TPN may be a lifelong requirement.
Long-term use of TPN can be associated with a variety of complications including bacterial infections, intravenous catheter complications, low bone calcium uptake, blood clots, gallbladder disease, kidney disease and liver problems. Liver and kidney problems can ultimately result in liver or kidney failure.
Eventually, some individuals with short bowel syndrome will be able to discontinue TPN. Individuals may be weaned off TPN through diet, medications and, sometimes, surgery. When GI function improves, affected individuals may be treated via enteral feeding. Enteral feeding is the use of a tube to deliver food directly into the stomach or small bowel. Eventually, affected individuals are given small amounts of food orally. It is important that infants receive small amounts of food orally in order for the infant to learn how to suck and to eat.
Affected individuals will be encouraged to eat whenever possible because eating stimulates intestinal absorption and promotes intestinal adaption. This is especially important because TPN bypasses the stomach and intestines altogether. There is no specific diet for individuals with short bowel syndrome. A diet will be individualized based on specific factors including what portion of the small bowel is affected and how well the remaining bowel is functioning. For example, individuals with an intact colon are recommended to follow a high-carbohydrate, low-fat diet. Infants and children, especially those at high risk for the development of small bowel bacterial overgrowth, may benefit from a higher fat diet to reduce bacterial proliferation and enhanced intestinal adaptation.
Individuals with short bowel syndrome are often encouraged to eat five or more small meals a day as opposed to two or three large meals. Concentrated sugars should be avoided or minimized because they can contribute to diarrhea. Some individuals may need to take vitamin or mineral supplementation to make up for deficiencies of these substances.
In addition to adjustments in diet, affected individuals may be given oral rehydration solutions. These solutions are used to maintain proper fluid balance. Generally, these solutions consist of water, sugar and salt. In some cases, they can reduce the need for parenteral nutrition.
A variety of medications may be used to treat individuals with short bowel syndrome.
Gattex® (teduglutide) was approved by the U.S. Food and Drug Administration (FDA) in 2012 to treat adults with short bowel syndrome. This drug is a form of glucagon-like peptide 2 which is a protein involved in the adaptation/rehabilitation of the lining (mucosa) of the intestines.
Drugs that help treat diarrhea (anti-diarrheals) are often used. Such drugs include diphenoxylate and loperamide. Codeine may also be prescribed as an anti-diarrheal. In individuals who do not respond to those drugs, opium tincture may be tried. Many of these drugs increase the time it takes for food to pass through the intestines by slowing peristalsis. Peristalsis refers to the contraction and relaxation of the muscles lining the intestines that push food through the digestive tract. Slowing peristalsis allows food to spend more time in the intestines, thereby enabling a greater amount of absorption and reducing diarrhea.
In patients with severe short bowel syndrome, the absorption of medications may be an important issue. Higher doses of medications may be required to offset the lower percentage of absorption. Extended release medications are generally to be avoided. Sometimes different delivery systems such as skin patches, nasal or other routes need to be considered to deliver a particular medication to an individual.
In some severe cases (e.g. cases in which individuals have lost all of their colon and ileum and some of the jejunum) or in individuals who do not respond to other medications, the somatostatin analogue, octreotide, may be tried. Octreotide can significantly reduce diarrhea in some cases. However, octreotide can also inhibit intestinal adaption by preventing the release of important hormonal secretions.
Drugs that prevent or reduce the release of stomach acid (e.g., histamine-2 receptor blockers and proton pump inhibitors) may also be used to treat individuals with short bowel syndrome. Examples of such drugs include famotidine, ranitidine, omeprazole and lansoprazole. Evidence suggests that excess acid secretions (hypersecretion) from the stomach can hinder intestinal adaption. These drugs are usually given early during the postoperative period when hypersecretion is greatest.
Somatropin (rDNA origin) for injection (Zorbtive®), a human growth hormone, has been approved by the Food and Drug Administration (FDA) for the treatment of individuals with short bowel syndrome. Zorbtive is similar to the growth hormone produced by the pituitary gland. This drug can improve the ability of the small intestine to absorb nutrients, thereby lessening the need for TPN. Zorbtive is approved specifically for individuals with small bowel syndrome who rely on a special diet, which often includes TPN.
Pancreatic enzyme replacement therapy such as pancrelipase and bile-acid resins such as cholestyramine may be given to some individuals with short bowel syndrome. Because food spends less time in the digestive system it has less opportunity to mix with normal pancreatic and biliary secretions that aid digestion.
In rare cases, where affected individuals develop bacterial overgrowth, medications (probiotics and/or antibiotics) that destroy or inhibit the growth of microorganisms may be recommended.
In infants and small children with short bowel syndrome, liver injury secondary to intravenous nutrition is common. Reduction in the amount of soy-based intravenous lipid solutions or use of fish oil based lipid emulsions appears to significantly improve the prognosis.
A variety of surgical techniques has been used to treat individuals with short bowel syndrome. Generally, surgery is used as a last resort in individuals in whom other therapeutic options have not worked. However, as surgical techniques improve, they may eventually be considered a front-line option. Surgical options for short bowel syndrome are sometimes broken down into non-transplant and transplant surgeries.
Artificially lengthening the intestines has been used to treat individuals with short bowel syndrome. Two main procedures have been used the Bianchi procedure and the STEP procedure. During the Bianchi procedure, a portion of the bowel is divided lengthwise into two segments. These segments are separated and joined end to end, resulting in a narrower, but longer segment of bowel.
STEP is an acronym for serial transverse enteroplasty. This procedure is usually performed in children who have enough small bowel remaining that surgeons can lengthen the bowel and restore function. During this procedure, a surgeon creates small cuts or notches into both sides of a widened portion of the short bowel. This creates a "zig-zag" shaped bowel that is narrower, but longer. The STEP procedure will result in food taking longer to move through the bowel, spending more time in contact with the lining of the bowel and enabling a greater chance of absorption.
Stricturoplasty is a procedure to widen a narrowed area of the bowel. This procedure is often done for individuals with Crohn's disease to prevent the need for large or multiple resections of the bowel.
Some segments of the small bowel may become abnormally widened (dilated) potentially allowing fluid to pool and bacteria to develop. Some procedures are done to narrow abnormally widened segments of the bowels. This is known as intestinal tapering.
Procedures that can reconnect the small bowel to the colon to establish continuity have also demonstrated benefit in treating individuals with short bowel syndrome.
A small bowel transplant may be an option for some individuals with short bowel syndrome, especially those who have complications from TPN such as liver failure or who were unable to maintain proper nutrition with other therapies. During a small bowel transplant, the disease small bowel is removed and replaced with one from a healthy donor. A variety of complications can occur with small bowel transplantation including organ rejection, infections, and lymphoproliferative disease. In addition, the procedure is expensive and requires the continued use of immunosuppressive drugs to lessen the chance of rejection. However, as surgical techniques and immunosuppressive agents improve in efficacy, survival has improved as well. Some individuals may receive a small bowel transplant along with a liver transplant (i.e., in cases with impending or frank liver failure) or other organs such as kidney or pancreas.
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