Bilary Artesia: Etiology & Prognosis

Biliary Artesia (Extrahepatic Ductopenia) is a rare liver disease that affects 1 of every 5-18k live births, with it being noted more often in females (NIDDK). It is characterized by a blockage of the hepatic ducts (bile ducts), in which the bile is unable to drain from the liver, since there is no bile duct openings or the openings have deformities.

Bile

Liver cells produce bile, which is stored in the gall bladder and aids in breaking down lipids (fats), within the small intestines. Biliary Artesia prevents the bile from draining through the common bile duct and into the small intestines. Instead the bile remains trapped inside of the liver, which leads to jaundice and cirrhosis. Gallbladder bile is yellowish-brown to dark green in color and contains water, cholesterol, potassium, sodium, bilirubin, and copper. Bile also aids in removing toxins and other wastes from the body.

Types

  • Fetal Biliary Artesia is noted, while the developing fetus is inside of the womb.
  • Perinatal Biliary Artesia is noted, when the infant is between the ages of 2-4 weeks.
  • Type I confined to the common bile duct
  • Type II confined to the common hepatic duct
  • Type II involves the right and left hepatic duct

Perinatal type is the most common. Infants that are diagnosed with Fetal Biliary Artesia will most often be diagnosed with congenital anomalies of the spleen and intestinal and heart birth defects. One or all of these congenital birth defects may be noted.

Heredity

Biliary Artesia has not been noted, as a hereditary disease and cannot be passed from the parent to the child.

Etiology

A genuine cause has not been determined, as of yet, but medical professionals have linked several factors to the rare disease.

  • Autoimmune Disease
  • Genetic Mutations and Disease
  • Hepatic Embryonic Development Anomalies (develops during the embryonic stage beginning at 3-4 weeks thru 9 weeks and represents about 10% of the fetus’ weight. This genetic defect may be linked to exposure of toxic substances.
  • Bacteria or Viral Infection (Cytomegalovirus, Retavirus)

Symptoms

  • Dark Colored Urine (Increased Bilirubin in the Blood)
  • Light Colored Stools (Decreased or Lack of Bilirubin in the Intestines)
  • Failure to Thrive
  • Distended Abdomen (Related to the Build Up of Bile in the Liver)
  • Unexplained Weight Loss

Genetic Gene

GPC1 gene is responsible for regulating Hedgehog signaling and inflammation. Infants with Biliary Artesia have been noted, as having a decreased level of GPC1. This is only a susceptible gene, which has been based on liver samples collected from infants with Biliary Artesia (NCBI).

Diagnosis

Prenatal testing such as the fetal ultrasound has been proven, in some cases, as being beneficial in detecting Biliary Artesia. In these cases, a hepatic cyst, enlarged liver or spleen may be noted.

  • Computed Tomography with Liver Biopsy
  • Abdominal X-ray
  • Magnetic Resonance Imaging

Treatment

The Kasai procedure will be preformed to remove the damaged portion of the infant’s bile ducts and replaces it with a loop of the small intestines. This will allow the bile to flow freely to the small intestines. While this is not a permanent cure for the disease, it can help prevent further complications and even death.

A liver transplant will be required in most cases.

Prognosis

Most infants will suffer with nutritional, protein, and vitamin deficiencies, since their metabolism appears to be faster than in a normal infant.