Familial hypercholesterolemia
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop in Atlas of Inherited Metabolic Diseases, 2020
Familial hypercholesterolemia (FH) is an important model disease. FH makes for compelling evidence of the causal relationship between elevated levels of cholesterol in the blood and coronary atherosclerosis. The most significant clinical consequence of FH is the occurrence of severe atherosclerosis in the aorta and coronary arteries because low-density lipoprotein-derived cholesterol is also deposited in arterial atheromatous plaques. Monoclonal antibodies to the PCSK9 convertase have emerged as treatment for even homozygous FH. Transplantation of the liver has been performed in a six-year-old child with homozygous disease. The average age of onset of coronary disease was significantly higher after widespread use of statins in Japan. The corneal arcus is also seen in people with normal lipid metabolism, but in this disease, it occurs at under 45 years of age. In heterozygotes, it is found in 10 percent by 30 years of age and in 50 percent of those over 30 years.
Personalized Nutrition in Hypercholesterolemia
Nilanjana Maulik in Personalized Nutrition as Medical Therapy for High-Risk Diseases, 2020
Hypercholesterolemia is a major risk factor in the development of cardiovascular diseases (CVD). CVD remains the foremost cause of death worldwide, accounting for more than 17.3 million deaths per year. High blood cholesterol can be due to reduced elimination or increased biosynthesis of cholesterol from the system. The higher intake of saturated fat or animal fat is one of the major dietary factors involved in hypercholesterolemia. Personalized nutrition can be an evidence-based approach fulfilling the criteria for detoxifying the body, averting vitamin and mineral deficiencies following changes in the diet by adjusting quantity, quality and methods of nutrient intake in building a healthy system. Nutritional therapy is an evidence-based approach to changes in the diet, by adjusting quantity, quality and methods of nutrient intake to maximizing one’s health potential. Thus, personalized nutrition with a special focus on a low carbohydrate diet, a low fat diet, the Mediterranean diet and the Dietary Approach to Stop Hypertension diet is highly recommended to achieve maximum health benefits.
Conclusion
E.I. Sokolov in Obesity and Diabetes Mellitus, 2020
Diabetes mellitus (DM) and atherosclerosis are integratively related diseases with a disorder of the lipid and carbohydrate metabolism attended by hypercholesterolemia, hypertriglyceridemia, and hypoalpha-cholesterolemia. The hemodynamic disorders are attended by an increase in the permeability of the vessels of the myocardium, kidneys, and retina. These processes increase the transcapiliary penetration of plasmoproteins and the development of diabetic complications. Hypertriglyceridemia is an important link in the disturbance of the metabolism of lipids in DM patients. The development of atheromatous plaques in the aorta and the coronary vessels is closely related to numerous hemodynamic, microcirculation, and rheological factors, especially with the intravascular aggregation of erythrocytes and thrombocytes. With a marked dysfunction of the plasma factors of blood coagulation in DM, the physicochemical properties of the erythrocyte membranes changed with the corresponding hindrance in the fluidity of the blood and the development of microthromboses.
A link between hypercholesterolemia and chronic lymphocytic leukemia
Published in Leukemia & Lymphoma, 2016
Signy Chow, Rena Buckstein, David E. Spaner
The incidence of hypercholesterolemia and its possible relationship with clinical course were determined by reviewing the records of 231 consecutive patients presenting to a specialized Chronic Lymphocytic Leukemia (CLL) clinic. Evidence for elevated cholesterol was found in up to 174/231 patients (75%) based on existing use of statins (107 patients) or non-fasting low-density lipoprotein cholesterol levels greater than 2.5 mM. Excluding patients with 17p deletions, time to first treatment (TFT) was prolonged if patients were taking cholesterol-lowering statins (57.5 (IQR = 32, 77) vs 36 (IQR = 11, 100) months, p
Evolocumab (AMG 145) for primary hypercholesterolemia
Published in Expert Review of Cardiovascular Therapy, 2015
Gisle Langslet, Maurice Emery, Scott M Wasserman
Evolocumab is a fully human monoclonal IgG2 antibody that inhibits proprotein convertase subtilisin/kexin type 9, a protein that targets LDL receptors for degradation and thereby reduces the liver’s ability to remove LDL-C from the blood. In Phase II and III trials in more than 6000 subjects with primary hypercholesterolemia, evolocumab reduced LDL-C by 50–75% compared with placebo and by 35–45% compared with ezetimibe. Evolocumab reduced the proatherogenic lipid profile, including Lp(a), and modestly increased HDL-C and ApoA1. In subjects with homozygous familial hypercholesterolemia, evolocumab reduced LDL-C by 30%. Safety and tolerability of evolocumab was similar to that of placebo and ezetimibe. The ongoing FOURIER trial, anticipated to report in 2017, will provide definitive evidence on cardiovascular endpoints and additional long-term safety.
Genetic considerations in the treatment of familial hypercholesterolemia
Published in Clinical Lipidology, 2015
Ann M Moyer, Linnea M Baudhuin
Familial hypercholesterolemia is an inherited disease characterized by a markedly increased concentration of LDL-bound cholesterol and can lead to premature cardiovascular disease. Most cases are due to autosomal dominant mutations in LDLR, APOB or PCSK9. Although most patients receive high-dose statin therapy, many are still unable to achieve desired lipid levels. For these patients, additional therapies, including LDL-apheresis are considered. Recently, there has been progress in the treatment of familial hypercholesterolemia with the development of PCSK9 inhibitors, a microsomal triglyceride transport protein inhibitor, and an antisense oligonucleotide against APOB. Addition of these new therapeutics to those in existence is likely to decrease morbidity and mortality associated with familial hypercholesterolemia.
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