Biliary atresia is a condition that affects newborns, where the bile ducts, which help transport bile from the liver to the gallbladder and small intestine, don’t develop properly. It’s rare, occurring in about 1 in 12,000 infants in the United States. If not treated quickly, it can be life-threatening. However, with prompt medical care, most infants live into adulthood. Without medication, most affected children require a liver transplant by the time they’re 2 years old.
Types
It can be categorized into two actual types based on the presence or absence of other birth defects:
The first type, known as biliary atresia without born defects, is the most common form in the US, affecting more than 80 out of 100 infants diagnosed with the condition. In this type, there are no additional major irregularities present at birth. It is often referred to as quarantined biliary atresia perinatal or biliary atresia by medical professionals.
The second type, biliary atresia along birth defects, occurs when infants also have other structural irregularities affecting organs such as the intestines, heart, or spleen. This form is alternatively termed embryonic or fetal biliary atresia.
These distinctions help doctors tailor treatment plans and provide appropriate care to infants affected by biliary atresia, depending on the specific type and associated conditions present at birth.
Symptoms
Biliary atresia typically presents its symptoms within 14 to 42 days after born, which include jaundice, pale or clay-colored stools, and dark urine. Jaundice, characterized by appearing yellow of the eyes and skin due to bilirubin buildup, is common in newborns but if it persists more than 3 weeks, it could term as biliary atresia, which accounts for around 25 to 30% of jaundice cases in infants.
Newborns with biliary atresia often pass light, pale, grey, or white stools due to the absence of bilirubin arriving in the intestines, which normally gives stools their usual color. Additionally, their urine may appear dark because of the excess bilirubin excreted by the kidneys.
By 6 to 10 weeks of age, other symptoms may emerge, such as irritability, impaired mass gain, signs of increased stress in veins causing to liver, and enlargement of the liver. Without timely medication, biliary atresia can progress to liver scarring (cirrhosis) and eventual liver failure. Early detection and intervention are crucial to managing the condition effectively and improving long-term outcomes for affected infants.
Causes
The development of biliary atresia involves abnormalities in the formation or missing parts of the intrahepatic bile ducts on the external side of the liver. It typically manifests prior to or shortly after born, though the exact cause remains unclear.
Researchers have found several potential factors that may contribute to the condition. These include certain genetic mutations, such as those in genes like CRIPTO, PKD1L1, LEFTY, EFEMP1, ARF6, GPC, ADD3, and NODAL. Problems during the development of the bile duct in the stomach, immune system reactions, and infections like orthoreovirus type 3, cytomegalovirus, and rotavirus have also been implicated as possible causes.
It’s important to note that biliary atresia is not a genetic disorder, meaning it does not pass directly from mother and father to children. Understanding these potential causes helps in ongoing research and the development of treatments aimed at managing and potentially preventing the progression of this condition in newborns.
Complications
Biliary atresia can result in severe complications if not treated promptly. These include liver failure, where the liver loses its ability to function properly; cirrhosis, which is scarring of the liver tissue that can lead to further liver damage; and malnutrition, as impaired bile flow affects the absorption of nutrients from food. Without timely intervention, these complications can significantly impact an infant’s health and even lead to death. Therefore, early diagnosis and treatment are crucial in managing biliary atresia and improving the prognosis for affected children.
Diagnosis
Diagnosing biliary atresia involves a series of tests designed to assess various aspects of the infant’s health. Doctors begin by gathering information about the infant’s medical history and any relevant family medical history. During a physical examination, they observe for indications of jaundice, look for any birth irregularities, and palpate the abdomen to check for an enlarged liver or spleen. They also examine the shade of the infant’s urine and stool.
To further evaluate the condition, doctors typically conduct blood tests to analyze liver function and perform a biopsy of the liver to examine tissue samples for signs of damage or abnormalities. Additionally, imaging tests such as a liver hepatobiliary or ultrasound scan may be performed to obtain detailed images of the liver and bile ducts.
Combining the outcomes of these tests enables healthcare providers to make an accurate diagnosis of biliary atresia, facilitating timely intervention and management to improve outcomes for affected infants. Early detection is crucial in guiding appropriate medication strategies and minimizing potential complications associated with this condition.
Treatment
The main medication for biliary atresia is a surgery known as the Kasai procedure. The surgery aims to slow down liver failure and stop complications. It works best when done early.
During the Kasai procedure, a specialist eliminates the damaged area of the intrahepatic bile duct external side of the liver. Then, they utilize a curve of the small intestine to create a new pathway for bile to flow to the small intestine from the liver directly.
Doctors usually wait almost 3 months after the surgery to see if it worked well. If the Kasai procedure isn’t done or doesn’t work, nearly all babies with biliary atresia will require a liver transplant by age 2. Even with the procedure, about half of the babies will still require a liver transplant by age 2, and 2/3rd will require one during childhood. Half of the individuals who don’t require a transplant during childhood might need one later in life. Early treatment and close monitoring are important to manage biliary atresia effectively and improve the long-term health of affected individuals.
Summary
Biliary atresia is a rare congenital condition affecting bile duct development in newborns, leading to jaundice and potential liver damage if untreated. Diagnosis involves medical history, physical exams, and various tests.
The Kasai procedure, an early surgical intervention, helps redirect bile flow and delay liver transplant needs. However, despite treatment, many children may eventually require a transplant. Prompt diagnosis and intervention are critical to managing symptoms and improving long-term outcomes, reducing risks of complications like cirrhosis and malnutrition.
