Hypertriglyceridemia presents an autosomal dominant inheritance pattern. This means that the mutated gene is a dominant gene located on one of the nonsex chromosomes (autosomes). You need only one mutated gene to be affected by this type of disorder. A person with an autosomal dominant disorder, the father has a 50 percent chance of having an affected child with one mutated gene (dominant gene) and a 50 percent chance of having an unaffected child with two normal genes (recessive genes).
The actual gene defect has not been determined in hypertriglyceridemia, but patients with this condition have an overproduction of VLDL by the liver that leads to many signs and symptoms of importance, such as pancreatitis and heart disease.
Insulin usually suppresses hepatic VLDL production. When there is insulin resistance, like in patients with diabetes type 2, insulin is not able to do this, which leads to further overproduction of hepatic VLDL.
Patients with hypertriglyceridemia will have increased levels of VLDL in the blood due to the unregulated hepatic overproduction.
Blood tests showing moderate to high increase in triglycerides (often > 1000 mg/dL) even after a fast of 12 to 14 hours, with relatively normal cholesterol, are highly suggestive of hypertriglyceridemia.
Increased fatty acids such as triglycerides can lead to plasma viscosity, which may induce ischemia in pancreatic tissue and trigger organ inflammation.
Eruptive xanthomas are benign skin lesions that are caused by localized deposition of lipids in the dermis.
Elevated levels of fatty acids and lipoprotein remnants such as VLDL can lead to plaque formation that can lead to coronary artery disease.
Elevated levels of fatty acids and lipoprotein remnants such as VLDL can lead to plaque formation that can lead to peripheral vascular disease.
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