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Familial Hypercholesterolemia

Familial Hypercholesterolemia. Clinical Biochemistry Dr. Ola Samir Ziara. Familial hypercholesterolemia. is a genetic disorder characterized by high cholesterol levels .

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Familial Hypercholesterolemia

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  1. Familial Hypercholesterolemia Clinical Biochemistry Dr. Ola Samir Ziara

  2. Familial hypercholesterolemia • 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.

  3. 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.

  4. 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.

  5. 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.

  6. the outer margin of the iris (arcus senile)

  7. 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 .

  8. ischemic heart disease, peripheral vascular disease, cerebrovascular disease, or aortic stenosis • Patients may have articular symptoms such as tendonitis or arthralgia

  9. Treatment of xanthoma • Xanthomacan 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

  10. There are five major classes of FH due to LDLR mutations • 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.

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