What is Ileal Atresia?
Jejunoileal atresia, often shortened to JIA, is a common issue in newborns that leads to a blockage in the intestines. It happens to around 1 in 5000 to 1 in 14000 newborns. JIA can appear anywhere in the small intestines and it can be a single blockage or multiple occurrences. If the blockage is closer to the end of the intestines the symptoms might appear later compared to a blockage near the beginning. Sometimes, JIA can occur alongside other birth defects like heart problems, gastroschisis, and cystic fibrosis.
Doctors can sometimes spot signs of JIA before the baby is born using ultrasound which can show signs of a blockage in the intestines in 29% to 50% of cases. After the baby is born, the blockage can cause certain signs and symptoms which helps the doctors confirm the diagnosis with an X-ray of the abdomen. The X-ray would show expanded intestines near the blockage but no gas near the end of the intestines.
Over the years, improvements in care provided to children in terms of anesthesia, surgery, and intensive care, along with better nutrition, have led to increased chances of survival for patients with JIA. The treatment plan depends on each individual case, generally it involves giving fluids through a vein, correcting electrolyte levels and acid levels in the body, relieving stomach pressure with a tube through the nose, and surgery. Traditionally, the surgery involves a transverse supraumbilical laparotomy, which is a cut across the upper belly. However, recently less invasive methods like cuts around the belly button and using tools to assist with laparoscopy, which is a type of minimally invasive surgery, have become more common.
What Causes Ileal Atresia?
Jejunoileal atresia (JIA), a condition that affects the small intestine, is often caused by a problem with the blood vessels in an unborn baby’s gut. This issue may cause some of the baby’s bowel to die and be reabsorbed while still in the womb, leaving a gap in the bowel. If the issue happens farther up the bowel, nearer to the stomach, it can cause more serious problems. There’s evidence that this could be the main cause of JIA, as some animals have developed similar conditions when their blood vessels have been deliberately compromised.
It seems that swallowing of the amniotic fluid could have happened before some events as bile, lanugo hairs, and epithelial cells, which are parts of the lining of the bowel, are found past the point of the problem with the bowel. Conditions that also cause issues with blood vessels in the womb, such as intussusception, internal hernia, midgut volvulus, omphalocele, and gastroschisis, can also lead to atresia. Drugs that constrict blood vessels and smoking during early pregnancy can also increase the risk.
There’s a system called the Grosfeld Classification that breaks down the different types of intestinal atresia, or bowel blockages, with four types. Type I describes a continuous lining of the bowel with an internal blockage. Type II explains when the bowel is connected by a fibrous cord, with the bowel’s lining not continuous. Type IIIa involves a V-shaped gap in the lining of the bowel, and type IIIb (also known as Apple peel) describes a short part of the ileum, the last part of the small intestine, coiling around a particular artery. Type IV is recognized by multiple blockages.
The type of atresia greatly impacts treatment options and how the condition develops. For instance, Type IIIb and Type IV are more likely to experience loss of a section of the bowel. Type IIIb is less common, making up about 5% to 10% of cases. These cases are more likely linked with an increased risk of blood supply issues in the end part of the bowel and might run in families in an autosomal recessive pattern – meaning you need to inherit the gene from both parents. Lastly, while ileal atresias (blockage in the ileum or the last part of the small intestine) are uncommon compared to jejunal atresia (blockages in the jejunum, the middle part of the small intestine), blockages that occur down further in the small intestine are less frequent.
Risk Factors and Frequency for Ileal Atresia
Jejunoileal atresia (JIA) is a medical condition that affects newborn babies. It is relatively rare and is estimated to occur in between 1 in 5,000 to 1 in 14,000 live births. About a third of the babies affected by this condition are born prematurely, and it affects boys and girls equally.
While some families have seen multiple cases of JIA, most cases happen without previous family history. Only less than 10% of JIA cases are accompanied by abnormalities in organs outside of the abdomen—an occurrence thought to be due to late complications in blood flow while the baby is still in the womb.
Jejunal atresia, a subtype of JIA, has been associated with other medical conditions like cystic fibrosis, malrotation, congenital heart disease, Down syndrome, anorectal and vertebral abnormalities. However, these additional anomalies are less frequent in ileal atresia (another subtype of JIA).
No links between JIA and diseases in parents have been reported. Moreover, chromosomal abnormalities are seen in less than 1% of patients with JIA.
Signs and Symptoms of Ileal Atresia
To diagnose jejunoileal atresia, a condition that affects the intestines, doctors need a full medical history and physical examination. Key details should include the stage of pregnancy when the baby was born, whether there were any problems during pregnancy, any family history of diseases, any other health conditions or drug use, and the results of any prenatal tests. Amongst these tests, ultrasound might have shown signs of blockages, like excess amniotic fluid or swollen intestines, or identified birth defects such as Down syndrome.
Besides these, other specific details about the time around birth should be available, including whether there were any difficulties during the delivery, how feeding has been going, when any bloating of the abdomen started, and whether the baby has been vomiting greenish bile or passing their first stool, known as meconium.
In the physical exam, the doctor needs to assess how ill the baby appears overall and look for signs of specific problems. These may include swelling in the abdomen, signs of peritonitis (an infection in the abdomen), breathing problems due to aspiration (inhaling food or drink) or splitting of the diaphragm, signs of dehydration, jaundice (a yellowing of the skin and eyes which indicates liver problems), the presence of Down syndrome, issues with the heart, or a malformation in the rectal area.
Testing for Ileal Atresia
Intestinal atresia, a condition where part of the bowel is missing or blocked, can sometimes be spotted before a baby is born through a prenatal ultrasound. If the doctor sees signs of intestinal obstruction, such as too much amniotic fluid (polyhydramnios), fluid in the baby’s abdomen (ascites), and enlarged bowel loops, this can suggest intestinal atresia. However, prenatal ultrasound doesn’t always pick up on this condition, especially for blockages that are further down the bowel.
After birth, signs of this condition, particularly for jejunoileal atresia (JIA, a subtype of intestinal atresia), can include a swollen belly, vomiting, and sometimes a delay in passing the first stool (meconium). The baby’s first stool might look normal, though usually, it’s a light-colored plug that’s passed from the rectum. In some cases, if the lower part of the bowel lacks blood supply (ischemia), blood might be seen in the rectum.
Doctors can confirm this condition by using a type of imaging test called an X-ray. They might also have the baby swallow air, which then acts as a contrast to highlight the organs in the abdomen in the X-ray images. For cases of JIA, the X-ray might show only a few enlarged parts of the bowel with no gas in the lower bowel. They might also use a contrast enema, another type of X-ray where a dye is injected into the rectum to help provide a clearer picture of the bowel.
If the contrast passes into the enlarged loop of the bowel, then atresia is ruled out. Other tests like a heart ultrasound (echocardiogram), kidney ultrasound, rectal biopsy, and cystic fibrosis screening might also be used to check for other congenital anomalies that often occur together, such as heart defects, kidney anomalies, Hirschsprung disease (another bowel condition), and cystic fibrosis.
Treatment Options for Ileal Atresia
If a doctor believes a patient has jejunoileal atresia, which is a birth defect causing a blockage in the small intestine, the first steps in treatment often involve using a nasogastric tube to relieve pressure in the stomach, giving fluids and electrolytes to address any imbalances, and providing antibiotics to prevent infection. These preparations are done before any surgery.
The specific type of surgical approach will depend on several factors, including where the blockage is located, the condition of the patient during the operation, the shape and structure of the blocked area, and the length of the remaining bowel. Typically, a common procedure involves removing the blocked and swollen part of the intestine and then connecting the two healthy ends together. The surgical decision is personalized to each patient’s individual needs and might include the creation of a temporary ileostomy (an opening in the abdomen to allow waste to leave the body) if there are concerns about the health of the bowel or significant difference in size between the proximal (upper) and distal (lower) bowel, or if there’s an intestinal perforation (hole or tear).
Surgery can be performed either through laparoscopic-assisted surgery, which is a minimally invasive approach, or open surgery, which requires larger incisions. The choice of surgical technique is based on the doctor’s judgement, the patient’s conditions, and their anatomy. In the laparoscopic-assisted approach, the affected part of the intestine is taken out through a small cut in the belly button, repaired, and then returned back to the abdomen. In an open surgery, the surgeon may make a larger cut above or below the belly button, or may use a “circumumbilical” incision around the belly button, which can result in a better cosmetic result. A previous study found that the laparoscopic-assisted approach could shorten both the operation time and the time before the patient can start eating and drinking again, compared to the open surgery. However, there’s no difference in complications, illness, or death rates between the two methods.
There are a couple of special cases to consider. When a child has multiple atresias, or blockages, primary surgical repair is usually performed to keep as much of the intestine as possible. A temporary ileostomy is often created to give the many connections time to heal. In cases where there’s a very short segment of healthy intestine between two blockages, the surgeon will usually remove the short segment and connect the healthy ends together, as long as the patient has enough healthy intestine left. This can reduce the number of connections needed.
What else can Ileal Atresia be?
There are several medical conditions that can show the same signs and symptoms of a bowel blockage, just like jejunoileal atresia (JIA). These conditions include:
- Intestinal malrotation with midgut volvulus
- Internal hernia
- Congenital small left colon syndrome
- Hirschsprung’s disease
- Meconium ileus
- Colonic atresia
Many people with malrotation might not show symptoms but they might be more likely to have a midgut volvulus. Volvulus tends to appear in babies less than a month old. Both this condition and JIA can cause vomiting and exclusion of malrotation can be achieved using certain imaging procedures of the upper digestive system.
Hirschsprung’s disease usually appears in newborns showing signs of bowel obstruction or lasting abdominal obstruction after surgical connection of the small intestine at the JIA site. To rule out Hirschsprung’s disease from other causes of bowel obstruction, medical professionals employ contrast enema and rectal biopsy.
Among patients with cystic fibrosis, meconium ileus is an important factor that can cause a bowel blockage, similar to JIA. Just like JIA, prenatal screening for cystic fibrosis as well as ultrasound findings indicating meconium ileus should prompt early detection and treatment to avoid complications tied to cystic fibrosis.
What to expect with Ileal Atresia
The survival rate for patients with a condition called jejunoileal atresia (JIA), a blockage in the small intestine, has significantly improved over recent years. This progress is largely due to advancements in children’s anesthesia, surgical methods, and improved nutrition delivered directly into the bloodstream.
However, the individual’s prognosis greatly depends on the presence of a condition called short bowel syndrome (SBS). SBS occurs when a person has less than 25 cm of intestine, which typically requires long-term nutritional support delivered directly into the bloodstream.
The risk of developing SBS is higher in patients with more severe forms of JIA, specifically types III and IV. JIA accounts for about 10% of intestinal failure, and there are two popular procedures to increase the length of the bowel: the serial transverse enteroplasty procedure (STEP) and the longitudinal intestinal lengthening procedure (LILT). Moreover, SBS and heart abnormalities are the primary causes of complications and death linked with JIA.
In the case of type IIIb JIA, premature birth, low birth weight, and associated abnormalities typically result in poorer outcomes. Meanwhile, type IV (multiple-segment atresia) often comes with central nervous system dysfunction in 25% of non-family related cases and severe immune deficiency caused by a mutation in a certain gene (TTC7A). Family-related type IV typically results in premature birth and decreased intestine length and is often fatal.
Possible Complications When Diagnosed with Ileal Atresia
After surgery, complications can arise such as sepsis (a potentially life-threatening infection) and anatomic leak (leakage from the surgical site), with the occurrence rate varying amongst studies and being reported between 5% and 8%, and 5% to 7%, respectively, in two retrospective studies.
Other notable complications involve adhesive bowel obstruction (a blockage in the gut), and short bowel syndrome (SBS), which is when a significant amount of the bowel is missing or non-functioning. SBS is especially severe as it can lead to longer hospital stays, more issues with feeding, an increased rate of infection, greater chance for disease, and more fatalities when compared to patients without SBS.
Post-Surgery Complications:
- Sepsis (life-threatening infection)
- Anatomic leak (leakage from the surgical site)
- Adhesive bowel obstruction (blockage in the gut)
- Short Bowel Syndrome (SBS), where a large part of the bowel is missing or not functioning properly leading to:
- Extended hospital stays
- Challenges with feeding
- Increased rate of infections
- Higher risk of disease
- Increased number of deaths
Recovery from Ileal Atresia
While waiting for the bowel to start functioning again after an operation, it’s important to maintain hydration through an intravenous drip and keep the stomach from overfilling with the help of a Nasogastric or Orogastric tube (tubes inserted through the nose or mouth into the stomach). When bowel function returns, feeding through a tube starts, initially at a slow pace, and gradually increased until the desired rate of feeding is achieved.
Eating and drinking normally resumes once the patient is awake and able to swallow. In certain situations, some patients may need to start receiving nutrients immediately after the operation through an IV (what doctors call parenteral nutrition). Others might require this kind of nutrition later if they suffer from a persistent inability of the bowel to work properly, known as a prolonged ileus.
Preventing Ileal Atresia
Jejunoileal atresia (JIA) is a medical condition where a section of the small intestine doesn’t have an opening or passage. It’s a rare condition, happening in anywhere from 1 in 5000 to 1 in 14000 babies, and it occurs equally in boys and girls. Experts think that JIA happens because of a disruption to the baby’s blood supply while in the womb. Sometimes, it can be associated with other health issues like cystic fibrosis and heart abnormalities.
Prior to birth, ultrasound scans may show signs of a blockage in the intestine in approximately 29% to 50% of cases. After birth, if doctors suspect this condition, the baby will not be fed due to the potential for complications. If the baby is fed, they might vomit and have a swollen belly.
To diagnose JIA, doctors will use an abdominal X-ray to check for trapped air in the upper small intestine. More tests – such as an upper gastrointestinal series and a contrast enema – are done to rule out other similar conditions like Hirschsprung’s disease.
The treatment for JIA involves surgery. Before the surgery, doctors work to stabilize the baby by hydrating them, balancing their body’s salts, and using a special tube to remove fluid from the blocked stomach and small intestine. The surgery can be done either as a minimally invasive, laparoscopic procedure, or as traditional open surgery. In the procedure, the surgeon identifies and removes the blocked section of the intestine before stitching the remaining healthy sections back together.
After the surgery, the baby will continue to have a tube in their stomach to drain any excess fluid. They won’t eat anything for a while, as it can take some time – days or even weeks – until their intestines are working normally again. Once the baby’s condition stabilizes, they can start eating orally. Pain is managed with common medication like acetaminophen or ibuprofen, and stronger painkillers like opioids for severe pain. Like all surgeries, there are risks involved including leaking at the stitched-together section of the bowel, infection, a lengthy recovery, and a shortened length of the intestine.
Once back at home, the child can eat a regular diet for their age and move around as usual. Their surgical wounds can be washed with soap and water, but they should avoid baths until at least a week after surgery when the wound has healed. Pain medication should be given as necessary for pain relief. It’s important to contact a doctor or return to the hospital if there are signs of infection like redness, warmth, or drainage from the surgical wound, as well as symptoms like vomiting and fever. A follow-up visit with your surgeon should be scheduled 2 to 4 weeks after the procedure to check the healing process.
