Some of the inherited liver abnormalities produce high concentrations of bilirubin in the blood (hyperbilirubinemia) and cause yellowing of the eyes and skin (jaundice).
Gilbert syndrome is an inherited disorder which the bilirubin does not function normally in the liver for secreting stool. Bilirubin needs to chemically combine (conjugate) with a different substance in the liver. This process will change the chemical into water-soluble and capable of being excreted through the bile.
In Gilbert syndrome, bilirubin is left unconjugated because of an enzyme deficiency or liver function defect. Gilbert syndrome is the most common cause of hyperbilirubinemia.
Sign and symptoms of Gilbert syndrome are usually mild. In some cases, the disorder is detected during a routine blood test. Gilbert syndrome does not contribute to liver damage, and no treatment is necessary.
This is a rare disorder that causes two types of hyperbilirubinemia: type 1 and type 2. In type 1, is considered the most severe form, which is an absence of a single enzyme needed to conjugate the bilirubin. In type 2, it only involves a partial enzyme deficiency and is less severe. Crigler-Najjar syndrome is caused by a different genetic variation than Gilbert syndrome and is more serious.
There is no treatment available to cure type 1 Crigler-Najjar syndrome. Unfortunately, an infant born with this disorder will die within the first year. Type 2 hyperbilirubinemia is a treatable disorder with the help of medication.
Some genetic disorders cause elevated concentrations of predominately conjugated (chemically combined, water-soluble) bilirubin. A known inherited disorder is Dubin-Johnson syndrome, known as chronic idiopathic jaundice. People with this disorder can show no signs and symptoms or vague gastrointestinal symptoms. In some cases, your doctor can detect if you have this disorder because the liver becomes enlarged and pigmented. The disorder does not require any treatment.
Benign Recurrent Cholestasis
This rare disorder usually becomes apparent in childhood. Often called Summerskill syndrome, which is characterized by recurrent episodes of jaundice and itching that last for days or months. There is no treatment for this disorder, because episodes resolve spontaneously and do not cause permanent liver damage.