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Accumulation of cholesterol in nonvascular tissue is of less clinical significance.Corneal arcus and planar, tendon, and tuberous xanthomas are present early in childhood and sometimes at birth.Tendon xanthomas may occur with other conditions such as familial defective apo B-100 and type III hyperlipoproteinemia.These deposits can cause Achilles tendonitis and articular symptoms, particularly of the hands, wrists, knees, and ankles.FH is a disorder of absent or grossly malfunctioning low-density lipoprotein (LDL) receptors.The LDL receptor gene is located on the short arm of chromosome 19, and the protein is composed of 860 amino acids.Early detection and aggressive management to lower the LDLc level helps prevent or slows the progression of coronary atherosclerosis.Moreover, if the first-degree relatives of a patient with FH are screened, other gene carriers can be identified and treated.
However, a substantial increase in serum triglyceride levels should raise the possibility of another lipid disorder.
No accurate estimates of mortality rates are available.
Cholesterol deposition in nonvascular tissue is common, although heterozygous children do not usually have physical manifestations; adults do not invariably develop them.
Untreated men are likely to develop symptoms by the fourth decade of life.
The onset of symptoms in women lags behind men by approximately 10-15 years.
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The LDL receptor also binds another ligand, apo E, and is, therefore, more accurately termed the B, E receptor.