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Primary Combined Hyperlipidemia

PrimaryCombinedHyperlipidemia:Pathophysiology&clinicalfindings Authors:GurreetBhandal,KarenZeng Rupali Manek Primary combined hyperlipidemia (genetic abnormalities) Reviewers: Raafi Ali, Luiza Radu *Samuel Fineblit *MD at time of review Familial dysbetalipoproteinemia or “Remnant Removal Disease” (autosomal recessive inheritance) Apolipoprotein E (ApoE) mutation (ApoE is found on triglyceride-rich lipoproteins, such as chylomicron & very low-density lipoprotein (VLDL)) Impaired triglyceride-rich lipoprotein particle binding to lipoprotein receptors ↓ Chylomicron & VLDL remnant clearance Familial combined hyperlipidemia Common, occurs in 1/50 to 1/100 (Polygenic, involving multiple genes, with variable expression & penetrance. Not all individuals will experience all clinical signs or complications) Adipose tissue dysfunction Impaired lipolysis (triglyceride breakdown in adipose tissue) ↓ Triglyceride storage in adipocytes ↑ Lipid levels ↓ Low-density lipoprotein (LDL) receptor function Impaired LDL particle endocytosis into cells ↓ LDL clearance ↑ Plasma LDL levels Hepatic fat accumulation ↑ Apolipoprotein B production ↑ Very low- density lipoprotein (VLDL) production ↑ Plasma VLDL levels Lipoprotein lipase dysfunction ↓ Triglyceride breakdown Delayed clearance of very low-density lipoprotein (VLDL), intermediate- density lipoproteins (IDL) & low-density lipoprotein (LDL) particles ↑ Plasma VLDL, IDL & LDL levels ↑ Triglycerides & cholesterol ↑ VLDL in serum Xanthomas (build up of cholesterol deposits on skin, eyelids, palms or tendons of ankles, elbows & knees) ↓ Conversion of VLDL to low-density lipoproteins (LDL) ↓ LDL in serum Atherosclerosis progression & ↑ risk of metabolic syndrome (↑Blood pressure, ↑ triglycerides, ↑ blood glucose, ↑ body mass index) Coronary artery disease & peripheral vascular disease Legend: Pathophysiology Mechanism Sign/Symptom/Lab Finding Complications Published Oct 4, 2024 on www.thecalgaryguide.com