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is a genetic disorder characterized by high cholesterol levels.
specifically very high levels of low-density lipoprotein in the
blood and early cardiovascular disease. Many patients have
mutations in the LDLR (LDL receptor) gene , which normally
removes LDL from the circulation, or apolipoprotein B (ApoB),
which is the part of LDL that binds with the receptor.
Patients who have one abnormal copy (are heterozygous) of
the LDLR gene may have premature cardiovascular disease at
the age of 30 to 40. Having two abnormal copies (being
homozygous) may cause severe cardiovascular disease in
childhood.
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Heterozygous FH is normally treated with statins,
bile acid sequestrants, nicotinic acid
preparations(vitamin B complex) or fibrates
New cases are generally offered genetic counseling.
Control of other risk factors for cardiovascular
disease is required
Homozygous FH often does not respond to medical
therapy and may require other treatments, including
LDL apheresis (removal of LDL in a method similar
to dialysis)
and occasionally liver transplantation.
Race
Certain populations like Finnish, Lebanese,
Ashkenazi Jewish, Afrikaner, or French Canadian
origins have a higher prevalence of FH
 Age
The consequences of a defective LDL receptor and
subsequent elevations of LDLc are present at birth, but
age is relevant because the longer patients live with
extremely elevated LDLc levels, the higher their risk of
CAD.
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 Physical
signs
High cholesterol levels normally do not cause any
symptoms.
 Cholesterol may be deposited in various places in
the body that are visible from the outside
 Xanthelasma are yellow plaques that occur most
commonly near the inner canthus of the eyelid, more
often on the upper lid than the lower lid.
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the outer margin of the iris (arcus senile)
And in the form of lumps in the tendons of the
hands, elbows, knees and feet(xanthoma)
 A xanthoma or xanthomata is a deposition of
yellowish cholesterol-rich material in tendons or
other body parts .
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ischemic heart disease, peripheral vascular disease,
cerebrovascular disease, or aortic stenosis
 Patients may have articular symptoms such as
tendonitis or arthralgia
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Xanthoma can be removed with a trichloroacetic
acid peel, surgery, lasers or cryotherapy. Removal
can cause scarring and pigment changes, but it is
unusual after treatment with trichloroacetic acid
There are five major classes of FH due to
LDLR mutations
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Class I: LDLR is not synthesized at all.
Class II: LDLR is not properly transported from the
endoplasmic reticulum to the Golgi apparatus for
expression on the cell surface.
Class III: LDLR does not properly bind LDL on the cell
surface because of a defect in apolipoprotein
Class IV: LDLR bound to LDL does not properly cluster
for receptor-mediated endocytosis.
Class V: LDLR is not recycled back to the cell surface.