Primary lipid disorders

Primary lipid disorders

A.Amouzegar.MD

Research Institute For Endocrine Sciences

Endocrine Research Center

AGENDA

• Familial   hypercholesterolemia
• Familial defective Apo B100
• Polygenic hypercholesterolemia
• Familial combined hyperlipidemia
• Familial dysbetalipoproteinemia
• Lipoprotein Lipase deficiency
• Apo Lipoprotein Cll deficiency
• Familial hyper triglyceridemia
• Familial Hypoalphalipoproteinemia

Familial hypercholesterolemia

• Caused by mutations in the LDL receptor gene that result in LDL receptor malfunction or absence in cells of the liver and peripheral tissues, leading to elevation of plasma LDL and TC concentrations
• Plasma cholesterol concentrations are typically elevated 2fold to 3fold above average in heterozygous subjects and 3 fold to 6 fold in homozygous subjects
• Heterozygosits:  cholesterol>300mg/dl

    LDL-C >250 mg/dl,, TG are not elevated-(1 in 5oo)

• Hyperlipidemia is present at birth

Characteristic physical finding:

• Tendon  xanthoma usually on the Achilles tendons or extensor tendons of the hands
• Xanthelasma
• premature  arcus  cornea
• Many affected subjects have no physical findings
• Premature CAD is common
• The age of onset of coronary disease is about 45 years in men and women who are heterozygous for FH