SEARCH RESULTS FOR: Primary-Combined-Hyperlipidemia

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