Biliary atresia is a rare but serious liver disease that affects infants. It is characterized by the progressive destruction or absence of the bile ducts, which are responsible for carrying bile from the liver to the gallbladder and small intestine. Without proper bile flow, the liver becomes damaged over time, leading to liver failure if left untreated. Recognizing the symptoms of biliary atresia is crucial for early diagnosis and intervention.
1. Jaundice: The most common and noticeable symptom of biliary atresia is jaundice, a yellowing of the skin and eyes. Jaundice occurs due to the buildup of bilirubin, a yellow pigment produced by the liver. In biliary atresia, the impaired bile flow causes bilirubin to accumulate in the bloodstream, resulting in the characteristic yellow discoloration.
2. Pale stools: Another prominent sign of biliary atresia is pale or clay-colored stools. Bile gives stools their normal brown color, so when bile flow is obstructed, stools become light-colored. This change in stool color is often one of the first noticeable symptoms and can help differentiate biliary atresia from other causes of jaundice in infants.
3. Dark urine: In contrast to pale stools, urine may appear darker than usual in infants with biliary atresia. The excess bilirubin in the bloodstream can be excreted through the kidneys, leading to dark-colored urine. This symptom is often more noticeable in older infants who have started producing larger volumes of urine.
4. Enlarged liver: Biliary atresia can cause the liver to become enlarged, which may be palpable as a firm mass in the abdomen. The liver may also feel harder than normal due to fibrosis or scarring. However, liver enlargement is not always present in the early stages of the disease and may develop over time as the condition progresses.
5. Poor weight gain: Infants with biliary atresia may have difficulty gaining weight or may even experience weight loss. The impaired bile flow affects the digestion and absorption of fats, leading to poor nutrient absorption and inadequate weight gain. This can result in failure to thrive, where the infant does not grow and develop at the expected rate.
6. Irritability and fussiness: Some infants with biliary atresia may exhibit signs of irritability and fussiness. The underlying liver dysfunction and associated discomfort can cause infants to be more irritable than usual. They may cry excessively, have difficulty sleeping, or show signs of discomfort during feeding.
7. Swollen abdomen: As biliary atresia progresses, the liver damage can lead to fluid accumulation in the abdomen, a condition known as ascites. This can cause the abdomen to appear swollen or distended. Swelling may also be observed in the legs and feet due to fluid retention.
8. Slow growth: In addition to poor weight gain, infants with biliary atresia may experience slow growth in terms of height and head circumference. The liver dysfunction and associated malabsorption can affect overall growth and development, leading to delayed milestones.
9. Itching: As the disease progresses and liver function deteriorates, some infants may experience itching or pruritus. This occurs due to the buildup of bile acids in the bloodstream, which can irritate the skin. Infants may scratch excessively, leading to skin damage or infection.
10. Fatigue and weakness: In advanced stages of biliary atresia, when liver failure is imminent, infants may exhibit signs of fatigue and weakness. The liver's inability to perform its vital functions, such as detoxification and protein synthesis, can lead to overall weakness and lethargy.
If your infant exhibits any of these symptoms, it is important to consult a healthcare professional promptly. Biliary atresia requires early diagnosis and intervention, typically through a surgical procedure called the Kasai procedure, to improve the chances of successful treatment and long-term outcomes.