Dyslipidemias

Dyslipidemias are a group of metabolic disorders characterized by any or a combination of the following: elevated low density liporpotein (LDL), elevated total colesterol (TC), elevated triglicerides (TGL) or low high density lipoprotein (HDL).The association between family history of dslipidemia and the risk of coronary artery disease is high. Atherosclerotic cardiovascular disease remains the leading cause of death worldwide.

Familial hypercholesterolemia (FH) is a common inherited autosomal disorder. Its frequency is estimated in 1:200. If untreated, increases the risk of premature cardiovascular disease.

Familiar Chylomicronemia is a recessive disorder  which can be harmful due to the risk of pacreatitis. The most common gene affected is LPL which encodes the lipoprotein lipase. The disease can be suspected in infancy by a creamy appearance of the blood on routine blood draw or fingerstick that results from triglicerides accumulation secondary to decreased clearance of chylomicrons from the plasma. If the diagnosis is not made earlier, the disease often presents as severe abdominal pain from acute pancreatitis. Homozygous or compound heterozygous individuals who have absent or markedly reduced LPL activity typically have serum tryglycerides concentrations that can reach 10,000 or higher. In contrast, heterozygous carriers have normal to moderately reduced LPL activity, are usually asymptomatic, and may have mildly elevated fasting TG concentrations that can range from 200 to 750 mg/dL.