Background: Homozygous familial hypercholesterolemia (HoFH) is a rare and devastating genetic condition characterized by extremely elevated levels of low-density lipoprotein cholesterol (LDL-C) leading to an increased risk of premature atherosclerosis. Patients with Homozygous familial hypercholesterolemia mostly present with mutations in LDLR; however, herein, we present two cases with concomitant microsomal triglyceride transfer protein mutations, who showed different clinical courses and treatment adherence on long-term therapy with the new MTTP inhibitor lomitapide.Objectives: We aimed to present the possibility of preventing the progression of atherosclerotic burden with effective and safe LDL-C reduction in patients with Homozygous familial hypercholesterolemia on low-dose lomitapide therapy and emphasize the role of treatment adherence in therapy success.Methods: We present two patients with phenotypically Homozygous familial hypercholesterolemia, a compound heterozygous woman and a simple homozygous man, both with LDLR and additional MTTP mutations, who were treated with the MTTP-inhibiting agent lomitapide, with different treatment compliances. The role of impulsivity was investigated through Barratt Impulsivity Scale 11, and the extent of the atherosclerotic burden was followed up using coronary artery calcium scoring, echocardiographic and sonographic findings, and, eventually, through a strict follow-up of laboratory parameters. The patients were on lomitapide for 8 and 5 years, respectively, with no adverse effects.Conclusion: When accompanied by good adherence to therapy, low-dose lomitapide on top of standard lipid-lowering therapy with decreased frequency of lipid apheresis prevented the progression of atherosclerotic burden. Non-compliance might occur due to patient impulsivity and non-adherence to a low-fat diet.

Lipoprotein (a) (Lp(a)) attests to be of interest as a new lipoprotein target. However, Lp(a) was discovered in 1963 and since then was recognized as a low-density lipoprotein (LDL)-like lipoprotein with a structurally similar domain to plasminogen. We are increasingly recognizing the importance of Lp(a) and cardiovascular pathologies including atherosclerotic cardiovascular disease, aortic valve stenosis, heart failure, and atrial fibrillation. However, we neither have a standardized measurement method nor an appropriate agent to intervene with this old threat that we have recognized for more than 50 years. Herein, we present an up-to-date review of our knowledge about Lp(a) covering measurement methods, its associates, and summary of the currently available therapies and emerging therapeutic agents for the management of high Lp(a) in the light of recent evidence and guideline recommendations

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Influenza virus-induced autophagy frequently accompanies apoptosis and results in cell death in cells infected with the virus. Autophagy has been well-known to be modulated by the mTOR/PI3K/Akt pathway, which plays an important role in response to the presence of energy sources and external stimulants. This pathway can also be modulated by MUC1, which has extracellular and intracellular components, and playing an important role in metastasis and chemotherapeutic resistance. In this study, the aim is to observe the changes in MUC1 expressions, which is known to have sialic acid residues within MUC1, therefore serving as a receptor for influenza viruses, and consequent changes in autophagy markers such as mTOR and LC3b, after inoculation of cancer cells with influenza virus.Fluorescence was detected for LC3b, mTOR and MUC1 in all influenza-positive cell lines (MCF-7, He-La, A-549) except for RD in immunofluorescence studies. In influenza-negative MCF-7, HeLa, RD and A-549 cells no fluorescence was detected. In the supernatant of all influenza-positive cells, except for RD cells, positive results were obtained for MUC1, MAP1LC3B and MTOR genes (Ct 20,01-32,04) in RT-qPCR, respectively encoding for MUC1, LC3b, and mTOR. In RT-qPCR, in cell lines without influenza inoculation, only in the A-549 cells, the gene expressions were found to be negative. In other cell lines, positive results were obtained (Ct 21,98-23,78). In RD cells, which have not been inoculated with the virus, all pathways were positive.In cells with adenocarcinoma structure, the alterations and presence of autophagy pathways and MUC1 expressions activated via influenza viruses were confirmed. However, this has not been proved using nucleic acid assays. The reason why might be the detection of only gene expressions and mRNA presence via the tests used in the study. In future studies, expressions of these genes in protein level should be detected using more advanced tests.

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