Biliary Atresia – Symptoms, Diagnosis, and Treatment

What is Biliary Atresia?

Biliary atresia is a type of genetic liver ailment in babies. The liver produces a digestive juice called bile, and the bile ducts (tube-like structures) carry this bile from liver to the small intestine. In this condition, the bile duct is not formed properly leading to accumulation of bile inside the liver, causing severe damage to the organ.

According to studies, at least 1 in 12,000 babies are diagnosed with this condition in the USA alone.

Causes

While doctors aren’t able to exactly list out the causes of biliary atresia, following have been identified as the usual suspects of this condition:

• Genetic mutations that lead to malformation of the whole or part of the bile duct are formed after a mother conceives, and the baby receives these genes from one of its parents.

• The most common cause of biliary atresia is mutations in PKD1L1, Cripto, Lefty, ARF6, EFEMP1, GPC, Nodal and ADD3 genes.

• Imbalances in the immune system

• Malformation of the liver or the bile duct in the womb

• Severe infections related to viruses (like rotavirus, reovirus type 3, etc.)

• Exposure to harmful chemicals

Although gene mutations contribute mainly to this condition, this is not a hereditary problem.

Symptoms of Biliary Atresia

Babies start to show symptoms of biliary atresia within 2-6 weeks of their birth. These symptoms include:

• Jaundice –

Watch out for the yellowing of your baby's skin and eyes (sclera). While newborns commonly show symptoms of jaundice within a couple of weeks after birth, symptoms of biliary atresia can extend beyond 3 weeks as well. In around 30% of the cases of this condition, jaundice is one of the first symptoms to watch out for.

• Colour of the stools –

Since this condition doesn’t allow the bile to reach the intestine, infants will pass clay, white, grey, or pale-coloured stools.

• Colour of the urine –

The urine of babies with biliary atresia is usually very dark and amber-coloured. This happens due to the accumulation of bilirubin in the liver.

• Itching all over the body

• Persistent sense of irritability and crankiness

• Swollen belly because of the swelling in the liver

• Lack of weight gain due to inadequate nutrient-absorption capacity of the body

• Portal hypertension, where the baby feels a lot of pressure in its veins

Diagnosis of Biliary Atresia

Biliary atresia should be treated immediately upon diagnosis. Otherwise, it can cause liver failure in babies. Here is how doctors diagnose this condition in infants.

• Analysing the infants’ existing medical condition and gathering details about the medical history of their biological parents

• Physical examination of the infants to check for jaundice symptoms and abnormalities (if any) in the abdomen

• Urine and stool tests to check the colour and confirm the condition

• Other blood tests, as deemed necessary by the doctor

• Abdominal ultrasound to check for swelling/enlargement of the liver

• Liver biopsy to check the extent of the damage

• Other imaging scans, such as hepatobiliary iminodiacetic acid scans

• Additional tests, as required, to rule out other medical complications

Treatment Options For Biliary Atresia

One of the most commonly followed treatments for biliary atresia is the surgical process known as Kasai. However, even after this, most infants need to undergo a liver transplant to get a permanent fix for this condition.

• Kasai Procedure –

In this surgery, doctors initiate the bile flow from liver to the small intestine. The blockage and abnormalities in the bile duct are removed to ensure the smooth flow of the bile.

Your baby’s jaundice-like symptoms, urine, and stool colour become normal after this surgery; your doctor will observe the baby for three months to ascertain whether the surgical procedure has been completely successful. However, this may not permanently correct your baby’s biliary atresia condition.

• Liver Transplant –

Biliary atresia causes excessive damage to the infant’s liver. Therefore, even after undergoing the Kasai procedure, most infants need a liver transplant to get relief. Doctors usually recommend that this surgery be performed by the time the kid is two years old for chances of better recovery. However, in some cases, kids undergo a liver transplant even in their teenage years.