Lipoprotein lipase deficiency: Difference between revisions
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[[ | {{SI}} | ||
{{Infobox medical condition | |||
| name = Lipoprotein lipase deficiency | |||
| image = [[File:Autosomal_recessive_-_en.svg|200px]] | |||
| caption = Lipoprotein lipase deficiency is inherited in an [[autosomal recessive]] pattern. | |||
| synonyms = Familial chylomicronemia syndrome, Type I hyperlipoproteinemia | |||
| pronounce = | |||
| specialty = [[Endocrinology]], [[Genetics]] | |||
| symptoms = [[Hypertriglyceridemia]], [[pancreatitis]], [[hepatosplenomegaly]], [[xanthomas]] | |||
| onset = Childhood | |||
| duration = Lifelong | |||
| causes = Mutations in the [[LPL (gene)|LPL gene]] | |||
| risks = | |||
| diagnosis = [[Genetic testing]], [[lipid profile]] | |||
| differential = [[Hyperlipidemia]], [[pancreatitis]] | |||
| prevention = | |||
| treatment = [[Dietary fat restriction]], [[medium-chain triglycerides]] | |||
| medication = | |||
| prognosis = Variable, depends on management | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
'''Lipoprotein lipase deficiency''' (LPLD) is a rare genetic disorder characterized by the body's inability to break down [[lipids]], specifically [[triglycerides]], in the blood. This condition is caused by mutations in the [[LPL gene]], which encodes the enzyme [[lipoprotein lipase]]. | |||
== Pathophysiology == | == Pathophysiology == | ||
Lipoprotein lipase is an enzyme crucial for the hydrolysis of triglycerides in [[chylomicrons]] and [[very low-density lipoproteins]] (VLDL) into free [[fatty acids]] and [[glycerol]]. These products are then taken up by tissues for energy production or storage. In individuals with LPLD, mutations in the LPL gene lead to a deficiency or complete absence of functional lipoprotein lipase, resulting in the accumulation of triglyceride-rich lipoproteins in the blood. | Lipoprotein lipase is an enzyme crucial for the hydrolysis of triglycerides in [[chylomicrons]] and [[very low-density lipoproteins]] (VLDL) into free [[fatty acids]] and [[glycerol]]. These products are then taken up by tissues for energy production or storage. In individuals with LPLD, mutations in the LPL gene lead to a deficiency or complete absence of functional lipoprotein lipase, resulting in the accumulation of triglyceride-rich lipoproteins in the blood. | ||
== Symptoms == | == Symptoms == | ||
The symptoms of LPLD typically present in childhood and can include: | The symptoms of LPLD typically present in childhood and can include: | ||
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* [[Xanthomas]] | * [[Xanthomas]] | ||
* Lipemia retinalis | * Lipemia retinalis | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of LPLD is based on clinical presentation, family history, and laboratory tests. Key diagnostic criteria include: | Diagnosis of LPLD is based on clinical presentation, family history, and laboratory tests. Key diagnostic criteria include: | ||
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* Presence of chylomicrons in fasting plasma | * Presence of chylomicrons in fasting plasma | ||
* Genetic testing confirming mutations in the LPL gene | * Genetic testing confirming mutations in the LPL gene | ||
== Treatment == | == Treatment == | ||
There is no cure for LPLD, but management focuses on reducing triglyceride levels to prevent complications. Treatment strategies include: | There is no cure for LPLD, but management focuses on reducing triglyceride levels to prevent complications. Treatment strategies include: | ||
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* Avoidance of alcohol and simple sugars | * Avoidance of alcohol and simple sugars | ||
* Use of fibrates and omega-3 fatty acids | * Use of fibrates and omega-3 fatty acids | ||
== Prognosis == | == Prognosis == | ||
With proper management, individuals with LPLD can lead relatively normal lives, although they must adhere to strict dietary restrictions to prevent complications such as pancreatitis. | With proper management, individuals with LPLD can lead relatively normal lives, although they must adhere to strict dietary restrictions to prevent complications such as pancreatitis. | ||
== See also == | == See also == | ||
* [[Hyperlipidemia]] | * [[Hyperlipidemia]] | ||
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* [[Pancreatitis]] | * [[Pancreatitis]] | ||
* [[Triglycerides]] | * [[Triglycerides]] | ||
== References == | == References == | ||
{{Reflist}} | {{Reflist}} | ||
== External links == | == External links == | ||
{{No external links}} | {{No external links}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Metabolic disorders]] | [[Category:Metabolic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Medicine]] | [[Category:Medicine]] | ||
{{medicine-stub}} | {{medicine-stub}} | ||
Latest revision as of 04:26, 8 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
| Lipoprotein lipase deficiency | |
|---|---|
| |
| Synonyms | Familial chylomicronemia syndrome, Type I hyperlipoproteinemia |
| Pronounce | |
| Specialty | Endocrinology, Genetics |
| Symptoms | Hypertriglyceridemia, pancreatitis, hepatosplenomegaly, xanthomas |
| Complications | N/A |
| Onset | Childhood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the LPL gene |
| Risks | |
| Diagnosis | Genetic testing, lipid profile |
| Differential diagnosis | Hyperlipidemia, pancreatitis |
| Prevention | |
| Treatment | Dietary fat restriction, medium-chain triglycerides |
| Medication | |
| Prognosis | Variable, depends on management |
| Frequency | Rare |
| Deaths | |
Lipoprotein lipase deficiency (LPLD) is a rare genetic disorder characterized by the body's inability to break down lipids, specifically triglycerides, in the blood. This condition is caused by mutations in the LPL gene, which encodes the enzyme lipoprotein lipase.
Pathophysiology[edit]
Lipoprotein lipase is an enzyme crucial for the hydrolysis of triglycerides in chylomicrons and very low-density lipoproteins (VLDL) into free fatty acids and glycerol. These products are then taken up by tissues for energy production or storage. In individuals with LPLD, mutations in the LPL gene lead to a deficiency or complete absence of functional lipoprotein lipase, resulting in the accumulation of triglyceride-rich lipoproteins in the blood.
Symptoms[edit]
The symptoms of LPLD typically present in childhood and can include:
- Severe hypertriglyceridemia
- Recurrent episodes of pancreatitis
- Abdominal pain
- Hepatosplenomegaly
- Xanthomas
- Lipemia retinalis
Diagnosis[edit]
Diagnosis of LPLD is based on clinical presentation, family history, and laboratory tests. Key diagnostic criteria include:
- Elevated plasma triglyceride levels
- Presence of chylomicrons in fasting plasma
- Genetic testing confirming mutations in the LPL gene
Treatment[edit]
There is no cure for LPLD, but management focuses on reducing triglyceride levels to prevent complications. Treatment strategies include:
- A very low-fat diet
- Medium-chain triglycerides (MCTs) supplementation
- Avoidance of alcohol and simple sugars
- Use of fibrates and omega-3 fatty acids
Prognosis[edit]
With proper management, individuals with LPLD can lead relatively normal lives, although they must adhere to strict dietary restrictions to prevent complications such as pancreatitis.
See also[edit]
References[edit]
<references group="" responsive="1"></references>
External links[edit]
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