Relationship of Familial

Hypercholesterolemia with Infarct

Myocard Acute in Biomolecular

LOO HIAN DAO,dr.,MSi.

 FAMILIAL HYPERCHOLESTEROLEMIA
• Autosomal dominant disorder.
• High plasma levels of LDL-cholesterol.
• Cause:
– Decreased levels or activity of the LDL receptor.
– Increased cholesterol synthesis by the liver.
• Both of these causes plasma cholesterol
level to increase to 250-500 mg/dl in
heterozygous FH and 600-1000 mg/dl in
homozygous FH individuals.
Table 1. Plasma cholesterol levels in normal and
familial hypercholesterolemic individuals.
Plasma cholesterol
Normal 150-200 mg/dl
FH Heterozygote 250-500 mg/dl
FH Homozygote 600-1000 mg/dl
 Table 2. Defects in the LDL receptor.
Defect Phenotype
Synthesis Most common defect, Receptor
not synthesized in the ER
Transport Receptor not transported to cell
surface, accumulates inside
cell
LDL Binding Receptor on cell surface, can’t
bind to apo B on LDL
Internalization Receptor binds to apo B on
LDL, can’t internalize LDL
Recycling Receptor internalizes LDL, but
isn’t recycled to cell surface
The LDL receptor pathway and regulation of cholesterol metabolism (McPherson & Pincus,2006)
CLASS I MUTATION
xanthelasma
MIOKARDIUM
 MATUR
SUWUN

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