Early Diagnosis, Care Influence Outcomes for Patients with Neonatal Cholestasis
During their careers, pediatricians likely will see hundreds of babies with breastfeeding jaundice, while they may encounter only one or two babies with neonatal cholestasis. That fact makes it imperative for physicians to constantly be on the alert for babies with liver disease, says Yumirle Turmelle, MD, a pediatric hepatologist at St. Louis Children’s Hospital who serves as medical director of the liver transplant program.
“About 70 percent of infants in the United States are breastfed, and approximately 20 to 30 percent of them will develop protracted jaundice as a result,” she explains. “Most of these are healthy, breastfed infants who’s jaundice will improve with time, but there’s a percentage—one in every 2,500 to 5,000 births—who will have neonatal cholestasis.”
Since early diagnosis of neonatal cholestasis is critical to newborns’ outcomes, the American Academy of Pediatrics recommends that any infant who remains jaundiced after three weeks of age have their bilirubin fractionated to determine the amount of direct/conjugated bilirubin present in the serum.
“In healthy babies, the amount of conjugated bilirubin present in serum is minimal, since it is rapidly excreted from the liver and removed from the body through the intestines,” says Dr. Turmelle. “An elevated level of direct/conjugated serum bilirubin is concerning for liver disease.”
Other symptoms of neonatal cholestasis are acholic stools because bile is not draining to the intestines, failure to thrive due to babies’ difficulty absorbing fat from their diet, hepatomegaly, ascites and enlarged spleen.
“Neonatal cholestasis can be caused by a number of conditions—congenital infection, endocrine and metabolic disorders, and the most common, extrahepatic biliary atresia,” says Dr. Turmelle. “No matter the cause, early diagnosis is critical to these patients’ outcomes. If liver disease goes undetected for any length of time, it is sometimes too late for effective treatment because the liver has sustained too much damage.”
Importance of referring to a Center of Excellence
Dr. Turmelle emphasizes the important role pediatricians play in the early diagnosis of neonatal cholestasis. “They serve as the gatekeepers in regard to getting babies’ bilirubin fractionated and then, when indicated, quickly referring them to specialists so that further testing and diagnosis can be done,” she says.
Referral to a Center of Excellence such as SLCH’s Pediatric Liver Care and Transplant Center is the best course of action, according to Dr. Turmelle. “Research has shown that babies receiving treatment at centers of excellence like ours have better outcomes because of the knowledge physicians gain through experience,” she says. “Caring for patients with liver disease requires hepatologists trained in treating these disorders, radiologists and pathologists skilled at interpreting these patients’ imaging studies and biopsy results, and both general and transplant surgeons with expertise in the procedures performed for liver-related diseases.”
This is of particular importance for babies with extrahepatic biliary atresia, the most common neonatal cholestasis. Of those diagnosed with the disorder, 50 percent will require a liver transplant before age 3. Another 25 percent will require a transplant sometime in their lifetime, probably in adolescence or early adulthood.
“Ensuring the early referral to a liver care center of babies with biliary atresia means they will benefit from surgeons skilled in performing a Kasai portoentrostomy, the surgical procedure in which the obstructed bile ducts are removed and a section of the small intestine is directly connected to the liver to initiate bile flow directly from the liver to the small intestine,” says Dr. Turmelle. “If successful, it can allow a child to grow and remain in fairly good health for several years.”
When it is determined a patient eventually will need a liver transplant, a Center of Excellence ensures there is a seamless transition to first keeping patients as healthy as possible during the wait period for a donor organ and then performing a successful transplant. SLCH’s Pediatric Liver Care and Transplant Center has the second-largest transplant volume in the Midwest and is in the top 10 in volume in the nation. It also has one of the shortest wait times for transplantation, averaging two months, and a 94 percent three-year post-transplant survival rate.
“Another important aspect of our center is our participation in the Childhood Liver Disease Research and Education Network,” says Dr. Turmelle. “As one of only 15 pediatric liver centers in the consortium, we are able to provide our patients and their families with important opportunities to make a contribution toward our goal of learning more about these diseases and their treatment.”
The Pediatric Liver Care and Transplant Center schedules appointments for patients with liver disease within 24 hours of referral, Monday through Friday. To make a referral, contact Children’s Direct at 800.678.HELP (4357).
