What is jaundice?

Increase in Bilirubin (yellow pigment) in blood beyond the normal range is defined as jaundice. Bilirubin is produced from breakdown of red blood cells. Before it is processed by the liver it is in indirect form. The rise of this form of bilirubin leads to Indirect jaundice. After processing into the liver it is converted to direct form which passes into the intestine through the bile duct. Bile duct is a tube like structure which connects the liver to small intestine. From intestine the direct bilirubin is absorbed into the blood and excreted by the kidneys. Any problem in the liver or bile duct can result into direct or cholestatic (absence of bile flow) jaundice.

What is PFIC ?

PFIC as the name stands for is a rare progressive disorder affecting liver due to defect in secretion of bile. As an inherited inability to secrete bile , it accumulates in the liver causing damage and ultimately end stage liver failure.


PFIC is Autosomal recessive disorder and can affect both males and females equally. It is a rare disease affecting about 1 per 1,00,000 births around the world.

What is Wilson disease?

Wilson disease is a genetic disorder in which copper does not get excreted from the body. This excess copper builds up in the liver, brain, eyes, and other organs. If left untreated, Wilson disease can cause severe brain damage and neurological symptoms, liver failure, and death.

What are the symptoms of Wilson disease?

The presentation may occur from 3 to 55 years of age. It is suspected when a young patient presents with acute liver failure or cirrhosis.
Symptoms of Wilson disease depend on the predominantly affected organ and include:
  • recurrent jaundice,
  • abdominal distension (fluid in the abdomen)
FAQs_Wilsonmeeting_Dec2012.pdf418.14 KB

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