Familial hypertriglyceridemia: Difference between revisions
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{{Infobox medical condition | |||
| name = Familial hypertriglyceridemia | |||
| image = [[File:Autosomal_dominant_-_en.svg|200px]] | |||
| caption = [[Autosomal dominant]] pattern of inheritance | |||
| synonyms = | |||
| pronounce = | |||
| specialty = [[Endocrinology]] | |||
| symptoms = Elevated [[triglycerides]], risk of [[pancreatitis]] | |||
| complications = [[Cardiovascular disease]], [[pancreatitis]] | |||
| onset = | |||
| duration = | |||
| types = | |||
| causes = [[Genetic mutation]] | |||
| risks = | |||
| diagnosis = [[Blood test]] | |||
| differential = | |||
| prevention = | |||
| treatment = [[Dietary modification]], [[medication]] | |||
| medication = [[Fibrate]], [[niacin]], [[omega-3 fatty acids]] | |||
| prognosis = | |||
| frequency = | |||
| deaths = | |||
}} | |||
'''Familial hypertriglyceridemia''' is a genetic disorder that results in high levels of [[triglycerides]] in the blood. This condition is inherited in an autosomal dominant manner, meaning that an affected person has a 50% chance of passing the disorder onto their children. | '''Familial hypertriglyceridemia''' is a genetic disorder that results in high levels of [[triglycerides]] in the blood. This condition is inherited in an autosomal dominant manner, meaning that an affected person has a 50% chance of passing the disorder onto their children. | ||
== Symptoms == | == Symptoms == | ||
The symptoms of familial hypertriglyceridemia can vary greatly from person to person. Some people may not experience any symptoms at all, while others may experience symptoms such as [[xanthomas]] (fatty deposits under the skin), [[pancreatitis]] (inflammation of the pancreas), and [[hepatosplenomegaly]] (enlargement of the liver and spleen). | The symptoms of familial hypertriglyceridemia can vary greatly from person to person. Some people may not experience any symptoms at all, while others may experience symptoms such as [[xanthomas]] (fatty deposits under the skin), [[pancreatitis]] (inflammation of the pancreas), and [[hepatosplenomegaly]] (enlargement of the liver and spleen). | ||
== Causes == | == Causes == | ||
Familial hypertriglyceridemia is caused by mutations in the [[lipoprotein lipase]] (LPL) gene. This gene provides instructions for making an enzyme that plays a crucial role in the breakdown of triglycerides. Mutations in the LPL gene disrupt the function of this enzyme, leading to an accumulation of triglycerides in the blood. | Familial hypertriglyceridemia is caused by mutations in the [[lipoprotein lipase]] (LPL) gene. This gene provides instructions for making an enzyme that plays a crucial role in the breakdown of triglycerides. Mutations in the LPL gene disrupt the function of this enzyme, leading to an accumulation of triglycerides in the blood. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of familial hypertriglyceridemia is based on a physical examination, medical history, and blood tests to measure the levels of triglycerides in the blood. Genetic testing may also be performed to confirm the diagnosis. | Diagnosis of familial hypertriglyceridemia is based on a physical examination, medical history, and blood tests to measure the levels of triglycerides in the blood. Genetic testing may also be performed to confirm the diagnosis. | ||
== Treatment == | == Treatment == | ||
Treatment for familial hypertriglyceridemia primarily involves lifestyle changes such as a low-fat diet and regular exercise. Medications may also be prescribed to help lower triglyceride levels. | Treatment for familial hypertriglyceridemia primarily involves lifestyle changes such as a low-fat diet and regular exercise. Medications may also be prescribed to help lower triglyceride levels. | ||
== See also == | == See also == | ||
* [[Hyperlipidemia]] | * [[Hyperlipidemia]] | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[Triglycerides]] | * [[Triglycerides]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Metabolic disorders]] | [[Category:Metabolic disorders]] | ||
[[Category:Endocrine disorders]] | [[Category:Endocrine disorders]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 16:29, 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
| Familial hypertriglyceridemia | |
|---|---|
| |
| Synonyms | |
| Pronounce | |
| Specialty | Endocrinology |
| Symptoms | Elevated triglycerides, risk of pancreatitis |
| Complications | Cardiovascular disease, pancreatitis |
| Onset | |
| Duration | |
| Types | |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Blood test |
| Differential diagnosis | |
| Prevention | |
| Treatment | Dietary modification, medication |
| Medication | Fibrate, niacin, omega-3 fatty acids |
| Prognosis | |
| Frequency | |
| Deaths | |
Familial hypertriglyceridemia is a genetic disorder that results in high levels of triglycerides in the blood. This condition is inherited in an autosomal dominant manner, meaning that an affected person has a 50% chance of passing the disorder onto their children.
Symptoms[edit]
The symptoms of familial hypertriglyceridemia can vary greatly from person to person. Some people may not experience any symptoms at all, while others may experience symptoms such as xanthomas (fatty deposits under the skin), pancreatitis (inflammation of the pancreas), and hepatosplenomegaly (enlargement of the liver and spleen).
Causes[edit]
Familial hypertriglyceridemia is caused by mutations in the lipoprotein lipase (LPL) gene. This gene provides instructions for making an enzyme that plays a crucial role in the breakdown of triglycerides. Mutations in the LPL gene disrupt the function of this enzyme, leading to an accumulation of triglycerides in the blood.
Diagnosis[edit]
Diagnosis of familial hypertriglyceridemia is based on a physical examination, medical history, and blood tests to measure the levels of triglycerides in the blood. Genetic testing may also be performed to confirm the diagnosis.
Treatment[edit]
Treatment for familial hypertriglyceridemia primarily involves lifestyle changes such as a low-fat diet and regular exercise. Medications may also be prescribed to help lower triglyceride levels.
See also[edit]
References[edit]
<references />
