Lecithin cholesterol acyltransferase deficiency: Difference between revisions
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{{Infobox medical condition | |||
| name = Lecithin–cholesterol acyltransferase deficiency | |||
| synonyms = LCAT deficiency | |||
| field = [[Endocrinology]], [[Nephrology]] | |||
| symptoms = [[Corneal opacities]], [[anemia]], [[kidney failure]] | |||
| complications = [[Renal failure]], [[cardiovascular disease]] | |||
| onset = Childhood or early adulthood | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]] in the ''LCAT'' gene | |||
| risks = Family history of the condition | |||
| diagnosis = [[Blood test]], [[genetic testing]] | |||
| differential = [[Fish-eye disease]], [[familial hypercholesterolemia]] | |||
| treatment = [[Symptomatic treatment]], [[kidney transplant]] | |||
| medication = None specific | |||
| frequency = Rare | |||
| prognosis = Variable, depends on severity and management | |||
}} | |||
'''Lecithin cholesterol acyltransferase deficiency''' (LCAT deficiency) is a rare genetic disorder characterized by the body's inability to properly metabolize certain fats (lipids) in the blood. The condition is caused by mutations in the [[LCAT gene]] and is inherited in an autosomal recessive manner. | '''Lecithin cholesterol acyltransferase deficiency''' (LCAT deficiency) is a rare genetic disorder characterized by the body's inability to properly metabolize certain fats (lipids) in the blood. The condition is caused by mutations in the [[LCAT gene]] and is inherited in an autosomal recessive manner. | ||
== Symptoms == | == Symptoms == | ||
The symptoms of LCAT deficiency can vary greatly from person to person. Some affected individuals may have no symptoms (asymptomatic) while others may develop serious complications. The most common symptoms include: | The symptoms of LCAT deficiency can vary greatly from person to person. Some affected individuals may have no symptoms (asymptomatic) while others may develop serious complications. The most common symptoms include: | ||
* [[Corneal opacity]] | * [[Corneal opacity]] | ||
* [[Anemia]] | * [[Anemia]] | ||
| Line 10: | Line 25: | ||
* [[Kidney disease]] | * [[Kidney disease]] | ||
* [[Renal failure]] | * [[Renal failure]] | ||
== Causes == | == Causes == | ||
LCAT deficiency is caused by mutations in the LCAT gene. This gene provides instructions for making an enzyme called lecithin cholesterol acyltransferase, which is found in the blood and is involved in the metabolism of lipids. Mutations in the LCAT gene reduce or eliminate the activity of this enzyme, leading to the characteristic features of LCAT deficiency. | LCAT deficiency is caused by mutations in the LCAT gene. This gene provides instructions for making an enzyme called lecithin cholesterol acyltransferase, which is found in the blood and is involved in the metabolism of lipids. Mutations in the LCAT gene reduce or eliminate the activity of this enzyme, leading to the characteristic features of LCAT deficiency. | ||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of LCAT deficiency is based on a clinical evaluation, detailed patient history, and specialized laboratory testing. Genetic testing can confirm a diagnosis. | The diagnosis of LCAT deficiency is based on a clinical evaluation, detailed patient history, and specialized laboratory testing. Genetic testing can confirm a diagnosis. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for LCAT deficiency. Treatment is directed toward the specific symptoms that are apparent in each individual. For example, individuals with kidney disease may require dialysis or a kidney transplant. | There is currently no cure for LCAT deficiency. Treatment is directed toward the specific symptoms that are apparent in each individual. For example, individuals with kidney disease may require dialysis or a kidney transplant. | ||
== See also == | == See also == | ||
* [[Lipid metabolism]] | * [[Lipid metabolism]] | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[Kidney disease]] | * [[Kidney disease]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Metabolic disorders]] | [[Category:Metabolic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{stub}} | {{stub}} | ||
{{No image}} | {{No image}} | ||
Latest revision as of 01:04, 4 April 2025
| Lecithin–cholesterol acyltransferase deficiency | |
|---|---|
| Synonyms | LCAT deficiency |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Corneal opacities, anemia, kidney failure |
| Complications | Renal failure, cardiovascular disease |
| Onset | Childhood or early adulthood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation in the LCAT gene |
| Risks | Family history of the condition |
| Diagnosis | Blood test, genetic testing |
| Differential diagnosis | Fish-eye disease, familial hypercholesterolemia |
| Prevention | N/A |
| Treatment | Symptomatic treatment, kidney transplant |
| Medication | None specific |
| Prognosis | Variable, depends on severity and management |
| Frequency | Rare |
| Deaths | N/A |
Lecithin cholesterol acyltransferase deficiency (LCAT deficiency) is a rare genetic disorder characterized by the body's inability to properly metabolize certain fats (lipids) in the blood. The condition is caused by mutations in the LCAT gene and is inherited in an autosomal recessive manner.
Symptoms[edit]
The symptoms of LCAT deficiency can vary greatly from person to person. Some affected individuals may have no symptoms (asymptomatic) while others may develop serious complications. The most common symptoms include:
Causes[edit]
LCAT deficiency is caused by mutations in the LCAT gene. This gene provides instructions for making an enzyme called lecithin cholesterol acyltransferase, which is found in the blood and is involved in the metabolism of lipids. Mutations in the LCAT gene reduce or eliminate the activity of this enzyme, leading to the characteristic features of LCAT deficiency.
Diagnosis[edit]
The diagnosis of LCAT deficiency is based on a clinical evaluation, detailed patient history, and specialized laboratory testing. Genetic testing can confirm a diagnosis.
Treatment[edit]
There is currently no cure for LCAT deficiency. Treatment is directed toward the specific symptoms that are apparent in each individual. For example, individuals with kidney disease may require dialysis or a kidney transplant.
