Familial Hypertriglyceridemia
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Lipids
- Chylomicron Metabolism
- VLDL Metabolism
- HDL Metabolism
- Abetalipoproteinemia
- Familial Hyperchylomicronemia
- Familial Hypercholesterolemia
- Familial Dysbetalipoproteinemia
- Familial Hypertriglyceridemia
Summary
Familial hypertriglyceridemia, also known as type IV hyperlipoproteinemia, is an autosomal dominant disorder that is defined by an isolated elevation of VLDL. This may have a number of possible causes, such as a heterozygous LPL-inactivating mutation, a hepatic overproduction of VLDL, or a decrease in VLDL clearance. Since VLDL carries triglycerides, hypertriglyceridemia is therefore a hallmark of the disease. High triglyceride levels are also a common cause of pancreatitis, which therefore may also be seen. Finally, the disease is often accompanied by insulin resistance.
Key Points
- Familial Hypertriglyceridemia
- Also known as type IV hyperlipoproteinemia
- Genetics
- Autosomal dominant
- This disease is fairly common
- Autosomal dominant
- Pathophysiology
- Possible causes:
- Heterozygote for LPL-inactivating mutation
- Hepatic overproduction of VLDL
- Decreased removal of VLDL
- Possible causes:
- Clinical Features
- Elevated VLDL → elevated triglycerides
- This is the definition of familial hypertriglyceridemia
- Compare / contrast with familial hyperchylomicronemia, which is also characterized by elevated VLDL / triglycerides
- Pancreatitis
- Caused by increased triglycerides
- Often accompanied by insulin resistance
- You may get premature atherosclerosis because of this, but you shouldn’t think of this familial hypertriglyceridemia as one of the CVD hyperlipoproteinemias. Those are hyperlipoproteinemias types II and III.
- No CVD / premature atherosclerosis
- Turbid serum
- Contrast against familial hyperchylomicronemia, in which the serum has a creamy layer
- I like to think of familial hypertriglyceridemia as a less severe form of familial hyperchylomicronemia
- Elevated VLDL → elevated triglycerides