Inheritance of familial hypercholesterolemia:
Ref: Harrison's Principles of Internal Medicine, 18th edition, page 3148Explanation:Familial hypercholesterolemia (FH):Homozygous FH is AD.one of the common single-gene disordersElevated LDL (500- lOOOmg/dL), normal TGCutaneous xanthomasPremature coronary artery diseaseEarly death in childrenHeterozygous FH . i in 500 populationLDL 200-400 mg/dlCAD in early ageTendon xanthomas, arcus lipidalisTreated with statins, cholesterol absorption inhibitor/bile acid sequestrumLDL apheresis needed rarely (See the following table)
AR
AD
XR
XD
Disorder of Metabolism & Connective Tissue