Hereditary hyperbilirubinemia
Hereditary Hyperbilirubinemia (pronunciation: /hɪˌrɛdɪˈtɛri haɪˌpɛrbɪlɪruːbɪˈniːmiə/) is a group of certain genetic disorders that result in high levels of bilirubin in the blood.
Etymology
The term "Hereditary Hyperbilirubinemia" is derived from three words: "Hereditary" which comes from the Latin word "hereditarius" meaning "of inheritance", "Hyper" is a Greek word meaning "over" or "excessive", and "Bilirubinemia" which is a combination of "bilirubin" (a yellow compound that occurs in the normal catabolic pathway that leads to the elimination of heme) and "-emia" (a Greek suffix meaning 'condition of the blood').
Types
There are several types of Hereditary Hyperbilirubinemia, including:
- Gilbert's syndrome: A common, mild form of hereditary hyperbilirubinemia.
- Crigler-Najjar syndrome: A rare, severe form of hereditary hyperbilirubinemia.
- Dubin-Johnson syndrome: A form of hereditary hyperbilirubinemia characterized by an increase of conjugated bilirubin without elevation of liver enzymes.
- Rotor syndrome: A rare, benign form of hereditary hyperbilirubinemia.
Symptoms
The main symptom of Hereditary Hyperbilirubinemia is jaundice, a yellowing of the skin and eyes. Other symptoms can include fatigue, abdominal pain, and an enlarged liver.
Diagnosis
Diagnosis of Hereditary Hyperbilirubinemia typically involves blood tests to measure levels of bilirubin and liver enzymes. Genetic testing may also be used to confirm a diagnosis.
Treatment
Treatment for Hereditary Hyperbilirubinemia depends on the specific type and severity of the condition. It can range from no treatment for mild cases to phototherapy or even liver transplantation for severe cases.
See also
External links
- Medical encyclopedia article on Hereditary hyperbilirubinemia
- Wikipedia's article - Hereditary hyperbilirubinemia
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