Hereditary hyperbilirubinemia

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Hereditary hyperbilirubinemia
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Jaundice, fatigue, abdominal pain
Complications	Kernicterus, gallstones
Onset	Varies by type
Duration	Lifelong
Types	Gilbert's syndrome, Crigler-Najjar syndrome, Dubin-Johnson syndrome, Rotor syndrome
Causes	Genetic mutations affecting bilirubin metabolism
Risks	Family history
Diagnosis	Blood test, genetic testing
Differential diagnosis	Hemolytic anemia, liver disease
Prevention	None
Treatment	Depends on type; may include phototherapy, phenobarbital, liver transplant
Medication	Phenobarbital, ursodeoxycholic acid
Prognosis	Generally good, varies by type
Frequency	Common (varies by type)
Deaths	N/A

Hereditary Hyperbilirubinemia is a group of certain genetic disorders that result in high levels of bilirubin in the body. These disorders are characterized by an increase in the level of bilirubin in the blood, which can lead to jaundice.

Types

There are several types of hereditary hyperbilirubinemia, including:

• Gilbert's syndrome: This is a mild form of hereditary hyperbilirubinemia. It is characterized by intermittent jaundice in the absence of liver disease or hemolysis.
• Crigler-Najjar syndrome: This is a severe form of hereditary hyperbilirubinemia. It is characterized by a high level of unconjugated bilirubin in the blood, which can lead to brain damage.
• Dubin-Johnson syndrome: This is a form of hereditary hyperbilirubinemia characterized by an increase in the level of conjugated bilirubin in the blood.
• Rotor syndrome: This is a rare form of hereditary hyperbilirubinemia. It is similar to Dubin-Johnson syndrome but without the black liver.

Symptoms

The main symptom of hereditary hyperbilirubinemia is jaundice, which is a yellowing of the skin and eyes. Other symptoms can include fatigue, abdominal pain, and weight loss.

Diagnosis

Hereditary hyperbilirubinemia is diagnosed through blood tests that measure the levels of bilirubin in the body. Genetic testing may also be used to confirm the diagnosis.

Treatment

Treatment for hereditary hyperbilirubinemia depends on the type and severity of the disorder. It can include phototherapy, medication, and in severe cases, liver transplantation.

See also

• Bilirubin
• Jaundice
• Liver disease
• Genetic disorder

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