Cognitive impairment and polidistrectual atherosclerotic disease in chylomicronemia syndrome: A case report

Lipoprotein Lipase Deficiency (R243H) in a Type 2 Diabetes Patient with Multiple Arterial Aneurysms

“…It has been proposed that LPL protein lacking any lipase activity may function as a bridge between apoB-containing lipoproteins and proteoglycans on vessel walls, thereby retaining atherogenic lipoproteins on endothelial cells, and leading to the progression of atherosclerosis (7,14). In fact, patients with complete LPL deficiency, whereby both enzymatic activity and protein mass are absent, reportedly exhibit a nonatherogenic phenotype (15,16), while patients with missense mutations which result in the absence of LPL activity with retention of the LPL protein are prone to atherogenesis (4,(6)(7)(8). Therefore, functionally inactive R243H-LPL protein may have played a role in the development of the severe atherosclerosis observed in this patient.…”

“…Considering these observations together, severe hypertriglyceridemia due to LPL However, in contrast to heterozygosity for the LPL gene mutations (11), a complete absence of LPL activity due to homozygous or compound heterozygous mutations has generally been considered to be non-atherogenic (12), because the CM particles, in which triglycerides are not hydrolyzed, are thought not to penetrate the vessel walls due to their large sizes (3). On the other hand, in recent years, several reports have indicated that atherosclerotic diseases do, in fact, develop in patients with some forms of LPL deficiency (4)(5)(6)(7)(8). This issue thus remains controversial.…”

“…On the other hand, it was believed that LPL deficiency does not lead to atherosclerosis development, because CM particles are too large to penetrate the endothelium of the arterial wall (3). However, in recent years, there have been several reports indicating that patients with LPL deficiency do, in fact, show accelerated atherosclerosis (4)(5)(6)(7)(8). Therefore, whether or not hypertriglyceridemia caused by LPL deficiency leads to atherosclerosis remains a controversial topic.…”