Impact of Variants of Uncertain Significance of LDL receptor on Phenotypes of Familial Hypercholesterolemia
Familial hypercholesterolemia (FH) is caused by a pathogenic mutation in LDL receptor (LDLR) or its associated genes, including apolipoprotein B (APOB), proprotein convertase subtilisin/kexin type 9 (PCSK9), and LDLR adaptor protein 1 (LDLRAP1) 1. Genetic testing for this disorder is important because 1) this is one of the most common Mendelian diseases 2, 3, 2) identification of pathogenic variants leads not only to their diagnosis but also to their risk stratification 4, 5, and 3) early diagnosis and treatment will lead to their better prognosis 6-9. (Source: Journal of Clinical Lipidology)
Source: Journal of Clinical Lipidology - September 29, 2022 Category: Lipidology Authors: Hayato Tada, Nobuko Kojima, Kan Yamagami, Akihiro Nomura, Atsushi Nohara, Soichiro Usui, Kenji Sakata, Kenshi Hayashi, Noboru Fujino, Masayuki Takamura, Masa-aki Kawashiri Source Type: research
A mechanism-based operational definition and classification of hypercholesterolemia
Plasma concentration of atherogenic cholesterol is mainly determined by circulating levels of the cholesterol transported within the apoB-containing lipoproteins represented by low-density lipoproteins (LDL) but also small very low-density lipoproteins (VLDL), intermediate-density lipoproteins (IDL) and lipoprotein(a) [Lp(a)]1,2. These fractions of circulating cholesterol are recognized to be the causal factor for development of atherosclerotic cardiovascular disease (ASCVD)3. Therefore, the precise blood lipid measurements and the reduction of circulating levels of atherogenic lipoproteins are key procedures to reduce the...
Source: Journal of Clinical Lipidology - September 29, 2022 Category: Lipidology Authors: Fernando Civeira, Marcello Arca, Ana Cenarro, Robert A. Hegele Tags: Review Article Source Type: research
Guidance for the diagnosis and treatment of hypolipidemia disorders
abetalipoproteinemia (Source: Journal of Clinical Lipidology)
Source: Journal of Clinical Lipidology - September 28, 2022 Category: Lipidology Authors: Cindy Bredefeld, M. Mahmood Hussain, Maurizio Averna, Dennis D. Black, Mitchell F. Brin, John R. Burnett, Sybil Charri ère, Charlotte Cuerq, Nicholas O. Davidson, Richard J. Deckelbaum, Ira J. Goldberg, Esther Granot, Robert A. Hegele, Shun Ishibashi, Wa Tags: Review Article Source Type: research
Volanesorsen, an antisense oligonucleotide to apolipoprotein C-III, increases lipoprotein lipase activity and lowers triglycerides in partial lipodystrophy
Lipodystrophy syndromes involve selective deficiency of adipose tissue and are categorized as generalized, characterized by near total lack of fat, or partial lipodystrophy, characterized by regional deficiency of fat in the lower extremities and preservation or even excess fat in the face, neck, and/or trunk.1 Partial lipodystrophy can be further classified as familial (most commonly caused by heterozygous mutations in LNMA and PPARG) or acquired (often associated with autoimmune conditions). The diagnosis of lipodystrophy is made clinically, with genetic studies performed to complement the clinical diagnosis. (Source: Jo...
Source: Journal of Clinical Lipidology - September 21, 2022 Category: Lipidology Authors: Marissa Lightbourne, Megan Startzell, Kimberley D. Bruce, Brianna Brite, Ranganath Muniyappa, Monica Skarulis, Robert Shamburek, Ahmed M. Gharib, Ronald Ouwerkerk, Mary Walter, Robert H. Eckel, Rebecca J. Brown Source Type: research
Assessment of Efficacy and Safety of Volanesorsen for Treatment of Metabolic Complications in Patients With Familial Partial Lipodystrophy: Results of the BROADEN Study
Familial partial lipodystrophy (FPLD) is a rare genetic disorder characterized by variable loss of subcutaneous adipose tissue from the peripheral depots and increased adipose tissue accumulation in other body regions such as the face, chin, neck, perineum, and intra-abdominal area.1-3 This adipocyte loss is associated with severe insulin resistance that can lead to diabetes mellitus, hypertriglyceridemia, and nonalcoholic steatohepatitis.1,2 Onset of loss of subcutaneous fat from the extremities typically occurs during prepuberty or puberty. (Source: Journal of Clinical Lipidology)
Source: Journal of Clinical Lipidology - September 21, 2022 Category: Lipidology Authors: Elif A. Oral, Abhimanyu Garg, Joseph Tami, Eric A. Huang, Louis St. L. O'Dea, Hartmut Schmidt, Anatoly Tiulpakov, Ann Mertens, Veronica J. Alexander, Lynnetta Watts, Eunju Hurh, Joseph L. Witztum, Richard S. Geary, Sotirios Tsimikas Source Type: research
