· FH (Familial Hypercholesterolemia) is caused by defects in the LDL receptor. There are two well-described phenocopy syndromes related to defects in other genes along the same pathway; they are non-classical FH (caused by mutations in the ApoB 100 gene)and a more severe autosomal recessive form of familial hypercholesterolemia (caused by changes in the LDLRAP1 gene). In AD (Autosomal dominant) disorders the disease occurs in three successive generations, with both males and females affected and transmitting risk. In recessive disease, both parents are typically either carriers or affected, and so disease tends to occur horizontally (e.g. within a sibship) rather than in successive generations. Diagnosis and Treatment · Strong Family History (Early MI, Stroke, Hypertension, Xanthomas, Hyperlipidemia) The lipid profile in classic FH is an elevated LDL (range usually 200–400 mg/dL ), a normal HDL, and normal TG. HMG Co-enzyme reductase inhibitors are...
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