Familial Hypercholesterolemia.
is a genetic disorder by defect on chromosome 19 and is autosomal dominant.,this defect cause body unable to remove LDL cholesterol from the blood, this high level of bad proteins (LDL) in the blood increase the risk to have PT a narrowing of the arteries from atherosclerosis at any early age. SYMPTOMS : 1.xanthomas(fatty skin deposit ) 2.xanthelasmas (cholesterol deposit in eyelids ) 3.angina (CAD) 4.cramping 5.sores on the toes that don't heal 6.sudden stroke 7.corneal arcs BLOOD TEST : 1. increase total cholesterol 2. increase LDL 3. normal triglyceride TREATMENT : 1.diet change 2. Statin drug 3. Apheresis in critical condition. other names of this disease : Type 2 hyperlipoproteniemia+Hypercholesterolemia Xanthomatosis+LDL Receptor mutation.
