Hereditary hyperbilirubinemia: Difference between revisions
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{{Infobox medical condition | |||
| name = Hereditary hyperbilirubinemia | |||
| image = [[File:Bilirubin_ZZ.png|250px]] | |||
| caption = Structure of [[bilirubin]] | |||
| field = [[Hepatology]] | |||
| 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 = [[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) | |||
}} | |||
'''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]]. | '''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== | ==Types== | ||
There are several types of hereditary hyperbilirubinemia, including: | 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. | * '''[[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. | * '''[[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. | * '''[[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. | * '''[[Rotor syndrome]]''': This is a rare form of hereditary hyperbilirubinemia. It is similar to Dubin-Johnson syndrome but without the black liver. | ||
==Symptoms== | ==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. | 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== | ==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. | 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== | ||
Treatment for hereditary hyperbilirubinemia depends on the type and severity of the disorder. It can include phototherapy, medication, and in severe cases, liver transplantation. | 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== | ==See also== | ||
* [[Bilirubin]] | * [[Bilirubin]] | ||
| Line 26: | Line 38: | ||
* [[Liver disease]] | * [[Liver disease]] | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Liver diseases]] | [[Category:Liver diseases]] | ||
[[Category:Metabolic disorders]] | [[Category:Metabolic disorders]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 20:30, 6 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| 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[edit]
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[edit]
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[edit]
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[edit]
Treatment for hereditary hyperbilirubinemia depends on the type and severity of the disorder. It can include phototherapy, medication, and in severe cases, liver transplantation.
