Familial hypercholesterolemia demonstrates an autosomal dominant inheritance pattern, meaning that on average 50% of children of an affected parent will have the disease passed on to them.
Familial hypercholesterolemia patients have defective or absent LDL receptors, which means that they cannot clear LDL from the plasma, causing the LDL levels to rise.
Defects in apolipoprotein B cause defective binding of ApoB-100 with LDL receptors, leading to impairments in LDL catabolism and decreased clearance of circulating LDL.
Gene mutations make it impossible for patients with Familial Hypercholesterolemia to remove excess low-density lipoproteins (LDL), from the blood stream. LDL delivers hepatic cholesterol to peripheral tissues. LDL is considered as "bad cholesterol" because, over time, the elevated blood cholesterol will lead to blockages in the arteries of the heart and/or brain. The longer a person experiences high LDL, the higher the risk for heart attacks or stroke related to these blockages.
High-density lipoprotein (HDL) transports cholesterol from peripheral tissues back to the liver. It is known as “good cholesterol” because it removes excess cholesterol from the blood. In this disease, HDL levels are decreased.
The main difference between types IIa and IIb of Familial Hypercholesterolemia is that in type IIb there can also be an increase in VLDL.
Accelerated atheroscleros is caused by very high levels of LDL. Patients with familial hypercholesterolemia may have a myocardial infarction (MI) before age 20.
Achilles tendon xanthomas are painless soft tissue masses occurring most commonly at the distal one-third of the tendon and are usually bilateral and symmetrical. It is characterized by localized accumulation of lipid-laden macrophages, inflammatory cells and giant cells secondary to cholesterol deposition in tissue.
Xanthelasma (also known as xanthelasma palpebra) is a well-circumscribed flat or slightly elevated yellowish growth that typically occurs on or around the eyelids. It is made up of cholesterol deposits that accumulate underneath the skin.
Arcus is a deposition of lipid in the peripheral corneal stroma. It starts at the inferior and superior poles of the cornea and in the late stages encircles the entire circumference. Corneal arcus is sometimes indicative of a high LDL with elevated serum cholesterol, especially in patients under 40 years of age. It can be a prognostic factor for coronary artery disease in this age group.
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