A patient was diagnosed with isolated increase in LDL. His father and brother had the same disease with increased cholesterol. The likely diagnosis is:
Ans. D. LDL receptor mutation(Ref: Harrison 19/e, Table 356.3)Frederickson's Classification of HyperlipoproteinemiaPhenotypeType IType IIType IIIMolecular defectLipoprotein lipase apo CIILDL receptor defect apo B100 defective Apo E defectGenetic nomenclatureFamilial chylomicronemia syndromeFamilial Hypercholesterolemia Familial Defective apo BFamilial dysbetalipoproteinemiaClinical featuresEruptive Xanthoma Pancreatitis Lactescent Plasma No Coronary/ Peripheral AtherosclerosisTendon Xanthoma Tuberous Xanthoma No Pancreatitis No Lactescent Plasma Coronary atherosclerosis+++Peripheral Atherosclerosis +Tuberoeruptive XanthomaNo Pancreatitis Coronary atherosclerosis +++ Peripheral Atherosclerosis +Lipid elevatedTriacylglycerol NB: Cholesterol normalCholesterolNB: Triacylglycerol normalCholesterol triacylglycerolLipoprotein elevatedChylomicronLDLChylomicron remnant VLDL remnant
Familial type III hyperlipoproteinemia
Abetalipoproteinemia
Familial LPL deficiency (type I)
LDL receptor mutation
Lipids