Type IIb hyperlipoproteinemia is caused by mutation in the receptor-binding domain of APOLIPOPROTEIN B-100 which is a major component of LOW-DENSITY LIPOPROTEINS and VERY-LOW-DENSITY LIPOPROTEINS resulting in reduced clearance of these lipoproteins. It is characterized by both hypercholesterolemia and HYPERTRIGLYCERIDEMIA (combined hyperlipidemia).
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"15 outpatients with type II hyperlipoproteinemia (7 with type IIa and 8 with type IIb) were treated with soybean." | ( Bosia, C; Fragiacomo, C; Noseda, G; Ramelli, F; Sirtori, CR, 1979) |
"A subgroup of patients with familial hypercholesterolemia (FH) respond inadequately to standard diet and drug therapy, and are therefore at high risk for the premature development or progression of coronary artery disease." | ( Bilheimer, DW; Brown, DC; Dau, PC; Gordon, BR; Gotto, AM; Illingworth, DR; Jones, PH; Kelsey, SF; Leitman, SF; Prihoda, JS, 1992) |
"Twenty eight patients with heterozygous familial hypercholesterolemia were treated with mevalonic acid (an inhibitor of cholesterol synthesis) for 45 days." | ( Aloe, N; Augeri, C; Avola, F; Carta, G; Cavagnaro, A; De Grandi, R; Del Nero, E; Gianfreda, M; Magro, GP; Mazzarello, GP, 1992) |
"In subjects with familial hypercholesterolemia cholesterol absorption efficiency was insignificantly reduced during a short-term more consistently during long-term pravastatin treatment." | ( Miettinen, TA, 1991) |
"Patients with heterozygous familial hypercholesterolemia (n = 12) were treated either with pravastatin, a specific inhibitor of HMG-CoA reductase, or cholestyramine, followed by a period of combined treatment with both drugs." | ( Angelin, B; Berglund, L; Dallner, G; Elmberger, PG; Eriksson, M; Kalén, A; Lund, E; Reihnér, E, 1991) |
"Seventeen patients with heterozygous familial hypercholesterolemia were sequentially treated with: a low cholesterol, fat restricted diet; diet and probucol (500 mg/day); and diet, probucol and niceritrol (1500 mg/day)." | ( Fukushima, N; Ozaki, I; Sakai, T; Setoguchi, Y; Yamamoto, K; Yanagita, T, 1991) |
"Two patients with familial hypercholesterolemia were treated by long-term plasma exchange via an arteriovenous Cimino shunt using unselective membrane separation." | ( Arntz, HR; Keller, F; Passfall, J, 1990) |
"Three patients with heterozygote type IIa hyperlipoproteinemia were treated by specific LDL apheresis with a dextran sulfate-cellulose column every two weeks." | ( Delplanque, B; Duedari, N; Emmerich, J; Jacotot, B; Jourdan, D; Norol, F, 1988) |
"Twelve patients suffering from familial hyperlipoproteinemia type IIa (FH) were treated for 8 months with simvastatin (20-40 mg/day) and compared with 10 untreated FH patients and 10 untreated normocholesterolemic subjects." | ( Löbel, P; Schrör, K; Steinhagen-Thiessen, E, 1989) |
"In 10 adult patients with severe type II hyperlipoproteinemia, a single HELP treatment of 3 1 plasma led to an acute decrease in the average plasma viscosity (PV) from 1." | ( Armstrong, VW; Eisenhauer, T; Janning, G; Schuff-Werner, P; Schütz, E; Seidel, D; Seyde, WC, 1989) |
"Eleven patients with heterozygous familial hypercholesterolemia (type IIa) were treated by partial ileal bypass." | ( Keane, PF; Ohri, SK; Sackier, JM; Swift, I; Thompson, GR; Williamson, RC; Wood, CB, 1989) |
"In patients with familial hypercholesterolemia treated with the bile acid sequestrant cholestyramine (16 gms/day), urinary mevalonate excretion increased by 28%, whereas low-density lipoprotein cholesterol concentrations decreased by 21%." | ( Illingworth, DR; Pappu, AS, 1989) |
"It is concluded that in familial hypercholesterolemia ileal bypass results in higher HDL- and HDL2-cholesterol and apoprotein A-I level than conservative treatment and that postheparin plasma lipolytic enzymes do not explain the higher level of these HDL components in the operated subjects." | ( Koivisto, P; Kuusi, T; Miettinen, TA, 1987) |
"However, in some patients with familial hypercholesterolemia, treatment was associated with a rebound in serum cholesterol concentration when the dose was increased from 10 to 40 mg/day." | ( Yamamoto, A; Yamamura, T; Yokoyama, S, 1988) |
"Nine heterozygous patients with familial hypercholesterolemia (FH) were treated by low density lipoprotein (LDL)-apheresis using dextran sulfate cellulose columns." | ( Fujita, H; Kajinami, K; Koizumi, J; Mabuchi, H; Michishita, I; Takeda, M; Takeda, R; Takegoshi, T; Ueda, K; Wakasugi, T, 1988) |
"Seven patients with familial hypercholesterolemia were treated fortnightly for 3 months by selective low-density lipoprotein apheresis with dextran-sulfate cellulose column (DSC)." | ( Brando, B; Busnach, G; Cappelleri, A; Dal Col, A; Franceschini, G; Minetti, L; Perrino, ML; Sirtori, C; Vaccarino, V, 1988) |
"The method of treatment of familial hypercholesterolemia did not affect the number of new cerebrovascular events." | ( Kaste, M; Koivisto, P, 1988) |
"Two homozygous patients with familial hypercholesterolemia were treated by double-filtration plasmapheresis." | ( Mabuchi, H; Michishita, I; Sakai, T; Sakai, Y; Takeda, R; Wakasugi, T; Watanabe, A, 1986) |
"Seventeen patients with familial hypercholesterolemia (9 males and 8 females) were treated with 1000 mg deoxycholic acid or placebo daily during 2 weeks in a double-blind, randomised cross-over fashion." | ( Havekes, L; Kempen, HJ; Leuven, JA, 1986) |
"Nine patients with familial hypercholesterolemia (FH), 6 with homozygotes and 3 with heterozygotes, were treated with long term repetitive LDL-apheresis." | ( Hayashi, R; Satani, M; Yamamoto, A; Yokoyama, S, 1987) |
"Fifty-one patients with familial hypercholesterolemia were treated for 2 to 4 years with probucol, cholestyramine, clofibrate and compactin in various combinations." | ( Funahashi, T; Kishino, B; Matsuzawa, Y; Yamamoto, A; Yamamura, T; Yokoyama, S, 1986) |
"For the treatment of familial hypercholesterolemia, Liposorber LA-40 was clinically applied." | ( Kobayashi, H; Murotani, N; Nishide, T; Odaka, M; Saito, Y; Soeda, K; Takata, S; Tani, N; Yoshida, S, 1986) |
"Patients with homozygous familial hypercholesterolemia (FH), reveal a marked heterogeneity in plasma cholesterol levels, response to diet as well as drug treatment, and clinical course." | ( Brewer, HB; Gregg, RE; Hoeg, JM; Lakatos, E; Schaefer, EJ; Sprecher, DL; Zech, LA, 1985) |
"Neomycin treatment in patients with type II hyperlipoproteinemia is an inexpensive and effective means of lowering the concentration of low-density lipoproteins and is free of significant side effects over a 3-mo period." | ( Bailey, KR; Bou, E; Gregg, RE; Hoeg, JM; Pikus, AM; Romano, CA; Schaefer, EJ; Sprecher, DL; Wilson, PW; Zech, LA, 1984) |
"Twelve patients with severe heterozygous familial hypercholesterolemia, in whom other hypolipidemic drug therapy had failed to reduce serum cholesterol levels to less than 300 mg/dL, were sequentially treated with mevinolin (a specific inhibitor of 3-hydroxy-3-methylglutaryl coenzyme A reductase, the rate-limiting enzyme in cholesterol biosynthesis) and colestipol." | ( Illingworth, DR, 1984) |
"Twenty two patients with primary type II hyperlipoproteinemia (13 phenotype IIa and 9 phenotype IIb) were treated with fenofibrate 300 mg a day for 4-12 months." | ( Bonfiglioli, D; Cabrini, E; Fasoli, A; Pogliaghi, I; Sommariva, D, 1984) |
"Homozygous familial hypercholesterolemia is refractory to standard dietary or drug therapy." | ( Burr, IM; Greene, HL; Slonim, AE; Stacpoole, PW; Swift, LL; Younger, RK, 1982) |
"One patient with familial hypercholesterolemia (untreated total cholesterol 800 mg%) received a combined drug treatment during 5 years." | ( Ditschuneit, H; Hutt, V; Klör, HU; Wechsler, JG, 1980) |
"The patient was treated for a familial hyperlipoproteinemia type IIa." | ( Achten, E; Algoed, L; Caemaert, J; de Reuck, J; van Aken, J, 1994) |
"A 66-year-old male heterozygous familial hypercholesterolemia (FH) patient with significant coronary atherosclerosis has been treated by us with probucol (1000 mg daily) for eight years." | ( Kajinami, K; Koizumi, J; Mabuchi, H; Nishitsuji, M; Shimizu, M; Takeda, Y, 1996) |
"In patients with familial hypercholesterolemia, monotherapy with hydroxymethylglutaril coenzyme." | ( Balestrieri, GP; Di Stefano, O; Maffi, V; Salvi, A; Scalvini, T; Sleiman, I; Spandrio, S, 1996) |
"Patients with familial hypercholesterolemia (FH) (n = 53) were examined with B-mode ultrasound before and after 3 years of cholesterol-lowering therapy with pravastatin, cholestyramine, or a combination." | ( Wendelhag, I; Wiklund, O; Wikstrand, J, 1995) |
"Fourteen patients with familial hypercholesterolemia treated with lovastatin (40 mg/day) for three months were studied to find out whether the expected changes in plasma lipids are accompanied by modifications in the lipid composition of the erythrocyte membrane and whether these in turn induce changes in the rheological behavior of the red blood cell." | ( Aznar, J; Carmena, R; Gil, L; Lluch, I; Martí, R; Martínez, M; Vayá, A, 1996) |
"Eighteen patients with familial hypercholesterolemia treated with lovastatin (40 mg/day) for three months were studied to find out whether the drug induces modifications in the lipid composition of the erythrocyte membrane and whether these induce changes in the rheological behaviour of the red blood cell." | ( Aznar, J; Carmena, R; Gil, L; Lluch, I; Marti, R; Martinez, M; Vaya, A, 1996) |
"In total, 30 patients suffering from familial hypercholesterolemia, resistant to diet and lipid-lowering drugs, were treated for up to 6 years (3." | ( Bambauer, R; Klinkmann, J; Latza, R; Schiel, R, 1996) |
"In children with familial hypercholesterolemia, heterozygosity and homozygosity for the C677T mutation in the methylenetetrahydrofolate reductase gene was associated with low serum folate and increased susceptibility to elevation of plasma total homocysteine during cholestyramine treatment." | ( Ose, L; Refsum, H; Tonstad, S; Ueland, PM, 1998) |
"Patients with heterozygous familial hypercholesterolemia are at especially high risk of premature coronary artery disease and usually require aggressive long-term lipid-lowering drug therapy to decrease plasma low-density lipoprotein (LDL) cholesterol concentrations to normal levels." | ( Kajinami, K; Koizumi, J; Mabuchi, H, 1998) |
"Two girls with familial hypercholesterolemia were treated for 7 years by plasma exchanges (PE) or LDL-apheresis (LA)." | ( Carla, H; Jouanel, P; Malpuech, G; Meyer, M; Palcoux, JB; Tridon, A; Vanlieferinghen, P, 1993) |
"We treated 10 patients with familial hypercholesterolemia (FH) with HMG-CoA reductase inhibitors, and 13 patients with endogenous hypertriglyceridemia (HTG) with fibrates." | ( de Man, FH; Mohrschladt, MF; Smelt, AH; Stoeken, DJ; Sturk, A; Westendorp, RG; Weverling-Rijnsburger, AW, 2000) |
"A 50-year old male patient with familial hypercholesterolemia and hyperlipoproteinemia (a), who underwent low density lipoprotein-apheresis treatment developed heparin-induced thrombocytopenia type II (HIT II)." | ( Kassner, U; Schliesser, C; Steinhagen-Thiessen, E; Thomas, HP, 2000) |
"Patients with homozygous familial hypercholesterolemia (HoFH) have a high incidence of cardiovascular morbidity and mortality from premature atherosclerosis, and the efficacy of pharmacological therapy has been limited." | ( Bruckert, E; Gagné, C; Gaudet, D, 2002) |
"Liposorber is used to treat familial hypercholesterolemia (FH), peripheral arterial disease (PAD), and focal segmental glomerulosclerosis (FGS): Selesorb is used to treat systemic lupus erythematosus (SLE)." | ( Asahi, T; Kutsuki, H; Yamamoto, T, 2003) |
"Gene therapy of familial hypercholesterolemia (FH) requires successful transfer and lifelong expression of a functional low density lipoprotein receptor (LDLr) gene in the liver." | ( Benhidjeb, T; Cichon, G; Heeren, J; Herwig, S; Löser, P; Niedzielska, D; Schlag, PM; Schmidt, HH; Schnieders, F; Uckert, W; Willnow, T, 2004) |
"Two boys, aged 9 and 15 years, with familial hypercholesterolemia, who were highly resistant to dietary regimes and to drug therapy, were treated with the low density lipoprotein adsorber DALI apheresis once every 2 weeks for 24 weeks." | ( Akgul, E; Bakkaloglu, A; Bayrakci, US; Besbas, N; Coskun, T; Kutluk, T; Ozcebe, O, 2005) |
"Patients with homozygous familial hypercholesterolemia have markedly elevated cholesterol levels, which respond poorly to drug therapy, and a very high risk of premature cardiovascular disease." | ( Bloedon, LT; Cuchel, M; Gregg, RE; Ikewaki, K; Kolansky, DM; Millar, JS; Rader, DJ; Sarkis, A; Siegelman, ES; Szapary, PO; Wolfe, ML, 2007) |
"A 68-year-old man with familial hypercholesterolemia developed effort angina and received a sirolimus-eluting stent (SES) to treat 99% stenosis in segment 6 of the left anterior descending coronary artery in January 2005." | ( Katayama, T; Ogata, N; Tsuruya, Y, 2007) |
"In patients with familial hypercholesterolemia, combined therapy with ezetimibe and simvastatin did not result in a significant difference in changes in intima-media thickness, as compared with simvastatin alone, despite decreases in levels of LDL cholesterol and C-reactive protein." | ( Akdim, F; Bots, ML; de Groot, E; Duivenvoorden, R; Gaudet, D; Kastelein, JJ; Marais, AD; Sijbrands, EJ; Stalenhoef, AF; Stein, EA; Stroes, ES; Trip, MD; Veltri, EP; Visseren, FL; Zwinderman, AH, 2008) |
"LDL-apheresis is a treatment for familial hypercholesterolemia in addition to diet and drug therapy." | ( Groisne, L; Hequet, O; Jaeger, S; Le, QH; Mekhloufi, F; Moulin, P; Rigal, D; Sassolas, A, 2010) |
"Three patients with familial hypercholesterolemia participated in six consecutive treatments with three different LDL apheresis columns in random order: DL-75, LA-15, and EC-50W." | ( Hardersen, R; Hovland, A; Lappegård, KT; Mollnes, TE; Nielsen, EW, 2010) |
"To examine a case of heterozygous familial hypercholesterolemia (HeFH) in a primary care setting and to review the epidemiology, pathophysiology, etiology, and treatment guidelines to reduce the mortality related to this disease process." | ( Friedrich, DA, 2010) |
"Early identification of children with familial hypercholesterolemia (FH) makes it possible to start lipid-lowering therapy at a young age in order to prevent cardiovascular disease." | ( Bruckert, E; Carreau, V; Girardet, JP, 2011) |
"People with Familial Hypercholesterolemia (FH) may benefit from lifestyle changes supporting their primary treatment of dyslipidaemia." | ( Broekhuizen, K; Brug, J; Kindt, I; Koppes, LL; van Mechelen, W; van Poppel, MN, 2012) |
"LDL-apheresis is a treatment option for familial hypercholesterolemia (FH) with country-specific thresholds for LDL-cholesterol (LDL-C) for initiation." | ( Parhofer, KG; Vogt, A, 2013) |
"In children and adolescents with familial hypercholesterolemia (FH) pharmacotherapy with statins is the cornerstone in the current regimen to reduce low-density lipoprotein cholesterol (LDLc) and premature coronary heart disease risk." | ( Drogari, E; Elens, L; Manolopoulos, VG; Mollaki, V; Ragia, G; Van Schaik, RH, 2014) |
"Homozygous familial hypercholesterolemia (HoFH) is a very rare condition (1 case per 1 million people) with a dismal outcome due to inevitable coronary artery disease that occurs when left untreated." | ( Shu, KH; Tsai, JL; Tsai, SF; Wu, MJ, 2016) |
"The SAFEHEART study (Spanish Familial Hypercholesterolemia Cohort Study) is a large, ongoing registry of molecularly defined patients with heterozygous FH treated in Spain." | ( Alonso, R; Badimón, L; Barba-Romero, MA; de Andrés, R; Diaz-Diaz, JL; Fuentes, F; Martinez-Faedo, C; Mata, N; Mata, P; Miramontes-Gonzalez, JP; Muñiz, O; Perez de Isla, L; Rubio-Marin, P; Saenz, P; Saltijeral Cerezo, A; Sanchez Muñoz-Torrero, JF; Watts, GF; Zambón, D, 2016) |
"Patients with familial hypercholesterolemia (FH) may be at increased risk for statin-associated muscle symptoms because they require long-term treatment with high-intensity statin therapy." | ( Adams-Huet, B; Ahmad, Z; Khine, H; Yuet, WC, 2016) |
"Background Familial hypercholesterolemia is a common autosomal dominant disease, caused by mutations leading to elevated low-density lipoprotein (LDL) cholesterol and, if untreated, to premature cardiovascular disease." | ( De Simone, B; Di Taranto, MD; Fortunato, G; Gentile, M; Giacobbe, C; Iannuzzi, A; Iannuzzo, G; Jossa, F; Marotta, G; Rubba, P; Sodano, M, 2017) |
"Despite the high prevalence of familial hypercholesterolemia (FH) and available effective lipid-lowering therapy, most of the individuals with this disorder remain undiagnosed and undertreated." | ( Blaha, V; Freiberger, T; Kyselak, O; Maskova, J; Raslová, K; Satny, M; Soska, V; Urbanek, R; Vaclova, M; Vohnout, B; Vrablik, M, 2018) |
"Diagnosis and Treatment of Familial Hypercholesterolemia Abstract." | ( Bärlocher, A; Bilz, S; Brändle, M; Gerth, Y; Korte, W; Müller, P; Rickli, H; Schöb, M, 2018) |
"Background Familial hypercholesterolemia ( FH ), is a historically underdiagnosed, undertreated, high-risk condition that is associated with a high burden of cardiovascular morbidity and mortality." | ( Carey, D; deRichemond, C; Geng, Z; Hu, Y; Jones, LK; Khan, A; Kirchner, HL; Kolinovsky, A; Krishnamurthy, S; Mehra, VC; Metpally, R; Patel, P; Ruhl, J; Snyder, S; Sturm, AC; Williams, MS, 2019) |
"Regarding patients with familial hypercholesterolemia, those treated with probucol, which is a potent anti-oxidative and anti-hyperlipidemic drug, showed significantly lower Ox-HDL (16." | ( Inui, H; Kanno, K; Katayama, Y; Koseki, M; Masuda, D; Nishida, M; Ohama, T; Okada, T; Saga, A; Sakata, Y; Sumida, M; Yamashita, S, 2021) |
"The investigation of familial hypercholesterolemia (FH) and its relationship to atherosclerosis has led to enormous scientific and medical progress, including the identification of genetic defects underlying FH, the elucidation of molecular mechanisms crucial for cellular cholesterol homeostasis and the development of current pharmaceutical tools for FH treatment (which are directed at increasing LDL uptake)." | ( Teixeira da Costa, LF, 2021) |
"Individuals with familial hypercholesterolemia (FH) undergo an aggressive treatment with cholesterol-lowering drugs to prevent coronary heart disease." | ( Hande, LN; Hansen, SH; Hov, JR; Hovland, A; Kummen, M; Lappegård, KT; Storm-Larsen, C; Thunhaug, H; Trøseid, M; Vestad, B, 2022) |
"Normalization of LDL cholesterol in familial hypercholesterolemia (FH) is not an easy task and frequently requires specific treatment, such as regularly performed lipid apheresis and/or novel drugs such as proprotein convertase subtilisin kexin 9 monoclonal antibodies (PCSK9Ab)." | ( Bláha, M; Blaha, V; Carazo, A; Hrubša, M; Javorská, L; Karlíčková, J; Konečný, L; Krčmová, LK; Matoušová, K; Mladěnka, P; Šmahelová, A, 2023) |