A Machine-Learning Algorithm using Claims Data to Identify Patients with Homozygous Familial Hypercholesterolemia (HoFH)
Homozygous familial hypercholesterolemia (HoFH) is a rare genetic condition characterized by markedly elevated low-density lipoprotein cholesterol with an estimated prevalence of 1 in 250,000. If untreated, HoFH patients may suffer premature cardiovascular events and early death; yet awareness and diagnosis of HoFH remains low. The heterogeneity of FH phenotypes and lack of International Classification of Diseases (ICD) diagnosis codes have posed challenges with HoFH identification. (Source: Journal of Clinical Lipidology)
Source: Journal of Clinical Lipidology - July 1, 2023 Category: Lipidology Authors: Jing Gu, Xinshuo Ma, Mathew Epland, Jina Park, Robert J Sanchez, Ying Li Tags: Genetic Disorders Source Type: research
⁎ A Genome-First Approach to Identify Carriers of Familial Hypercholesterolemia Causing variants
Familial hypercholesterolemia (FH) is a highly penetrant monogenic condition affecting ∼1:300 individuals. FH is associated with lifelong LDL-C elevation and increases the risk of premature ASCVD and mortality when not adequately treated. (Source: Journal of Clinical Lipidology)
Source: Journal of Clinical Lipidology - July 1, 2023 Category: Lipidology Authors: Salma Mami, Joseph Park, Deepak Vedamurth, Marjorie Risman, Daniel J Rader, Archna Bajaj, Marina Cuchel Tags: Genetic Disorders Source Type: research
Familial LCAT (Lecithin: Cholesterol Acyltransferase) Deficiency: A Case Report
Familial LCAT deficiency (FLD) is a rare genetic disorder for which there is currentlyno treatment. It is marked by extremely reduced HDL-C levels since birth. Corneal opacity is often the first clinical sign of disease and progressive chronic kidney disease develops by the fourth decade of life. While the biochemical aspects of FLD are well understood, little is known about its natural history, hampering the identification of biomarkers which could aid the timely diagnosis of the disease and the development of effective treatments. (Source: Journal of Clinical Lipidology)
Source: Journal of Clinical Lipidology - July 1, 2023 Category: Lipidology Authors: Gregory Alfaro, Jay Pendyala, Archna Bajaj, Cecelia Vitali, Michael E Sulewski, Marina Cuchel Tags: Genetic Disorders Source Type: research
Refractory Hypercholesterolemia in Heterozygous Familial Hypercholesterolemia Treated with Evinacumab
We present a patient with HeFH genotype that did not adequately respond to the combination of these therapies, much like a homozygous FH patient. She required addition of evinucamab, a monoclonal antibody to ANGPTL3 approved for HoFH, to bring her LDL and total cholesterol to target. (Source: Journal of Clinical Lipidology)
Source: Journal of Clinical Lipidology - July 1, 2023 Category: Lipidology Authors: Tiffany Haynes, Laura Grace Kukuc, Robert Fishberg Tags: Genetic Disorders Source Type: research
Predictors of All-Cause Mortality in Heterozygous Familial Hypercholesterolemia: A Multinational Prospective Study
Familial hypercholesterolemia (FH) is a monogenic disease associated with elevated LDL-C and an increased risk of premature coronary heart disease and mortality. Although the clinical predictors of cardiovascular disease in FH have been well studied, the predictors of mortality in this population are not well characterized. Furthermore, the current proportion of death from cardiovascular causes in the era of lipid-lowering treatment is not precisely known in heterozygous FH (HeFH). (Source: Journal of Clinical Lipidology)
Source: Journal of Clinical Lipidology - July 1, 2023 Category: Lipidology Authors: Alexis Wilfrid Baass, Martine Paquette, Sophie Bernard, Bertrand Cariou, Robert A Hegele, Jacques Genest, Mark Trinder, Liam R Brunham, Sophie B éliard Tags: Genetic Disorders Source Type: research
Usefulness of the ApoB Quick Diagnosis App in the Diagnosis of Suspected Familial Chylomicronemia Syndrome
Familial chylomicronemia syndrome (FCS) is a rare, autosomal, recessive disease caused by mutations in the lipolytic cascade, that produce profound elevation in triglycerides due to accumulation of intact chylomicrons (CM) particles. Mutations in the lipoprotein lipase gene (LPL) account for 80% of these cases. FCS patients can present with a variety of symptoms, including eruptive xanthomas and pancreatitis, but not CAD. These patients often do not respond to traditional lipid lowering agents. Accordingly, an accurate diagnosis is essential in order to institute the correct treatment. (Source: Journal of Clinical Lipidology)
Source: Journal of Clinical Lipidology - July 1, 2023 Category: Lipidology Authors: Laura Grace Kukuc, Tiffany Haynes, Robert Fishberg Tags: Genetic Disorders Source Type: research
Improvement in Cognitive Function and Reducing the Risk of Developing Cardiovascular Events/ Stroke in Homocysteinemia
A patient presenting with recurrent stroke and angina was diagnosed with homocysteinemia. Elevated homocysteine levels increase the risk of atherosclerosis and venous thrombosis, which can lead to strokes, and cardiovascular events, while significantly impacting an individual's brain function, including the onset of depression/psychosis. (Source: Journal of Clinical Lipidology)
Source: Journal of Clinical Lipidology - July 1, 2023 Category: Lipidology Authors: Kirollos Gabrah, Mirra Srinivasan, Hadia Arzoun, Siji Thomas, Barry Tedder Tags: Genetic Disorders Source Type: research
Diagnosis and Management of Familial Dysbetalipoproteinemia in a Patient with Apo E2/E2 Genotype
SG is a 42-year-old male nonsmoker with severe hypertriglyceridemia is referred for optimal management of lipid disorder. (Source: Journal of Clinical Lipidology)
Source: Journal of Clinical Lipidology - July 1, 2023 Category: Lipidology Authors: Sohil Golwala, Daniel Soffer Tags: Genetic Disorders Source Type: research
Cardioprotection from a Silent Syndrome: Effect of Gilbert's Syndrome on Cardiovascular Disease in Patients with Familial Hypercholesteremia
Due to a liver defect in lipid metabolism, patients with inherited heterozygous familial hypercholesterolemia (FH) are especially at risk for atherosclerotic cardiovascular disease (ASCVD). This likelihood is due to the cumulative effect of high cholesterol which starts at a young age. Gilbert's Syndrome (GS) is a separate genetic liver disease that results in mildly increased serum unconjugated bilirubin which is postulated to be cardioprotective for ASCVD. Both GS and FH represent two separate genetic liver diseases, one beneficial and one a leading cause of morbidity and mortality. (Source: Journal of Clinical Lipidology)
Source: Journal of Clinical Lipidology - July 1, 2023 Category: Lipidology Authors: Debra Brown Tags: Genetic Disorders Source Type: research
The Outcome of Percutaneous Coronary Intervention in Patients with Familial Hypercholesterolemia: A Nationwide Analysis
Familial Hypercholesterolemia (FH) is a genetic disorder that leads to high LDL and accelerated atherosclerosis. Even with lipid-lowering drugs, FH patients still suffer myocardial infarction and require revascularization. However, there is limited data on the outcome of percutaneous coronary intervention (PCI) in patients with FH. (Source: Journal of Clinical Lipidology)
Source: Journal of Clinical Lipidology - July 1, 2023 Category: Lipidology Authors: Joseph Kofi Amoah, Sara Noureldin, Michael Fatuyi, Francisco Somoza-Cano, Sammir Dekowski Tags: Genetic Disorders Source Type: research
Atrial Fibrillation Outcome in Patients with Familiar Hypercholesterolemia
Familial Hypercholesterolemia (FH) is associated with an increased risk of atrial fibrillation due to coronary artery disease (CAD). (Source: Journal of Clinical Lipidology)
Source: Journal of Clinical Lipidology - July 1, 2023 Category: Lipidology Authors: Joseph Kofi Amoah, Sara Noureldin, Michael Fatuyi, Francisco Somoza-Cano, Sammir Dekowski Tags: Genetic Disorders Source Type: research
† Lomitapide Hepatic Safety: A Long-Term Retrospective Analysis in Patients with Homozygous Familial Hypercholesterolaemia
Lomitapide is a microsomal triglyceride transfer protein inhibitor for patients with homozygous familial hypercholesterolaemia (HoFH). Due to its mechanism of action, potential hepatic effects of lomitapide are of clinical interest. (Source: Journal of Clinical Lipidology)
Source: Journal of Clinical Lipidology - July 1, 2023 Category: Lipidology Authors: Dominique Larrey, Sallyann O'Brien, Laura D'Erasmo, Marcello Arca Tags: Genetic Disorders Source Type: research
Underutilization of Guideline-Recommended Genetic Testing to Diagnose Familial Hypercholesterolemia in a Large, Real-world Cohort
Familial hypercholesterolemia (FH) is a common genetic condition that, if left untreated, is potentially fatal. Clinical practice guidelines recommend that genetic testing for FH be performed if low-density lipoprotein cholesterol (LDL-C) values are markedly elevated or with onset of premature coronary artery disease (CAD). Genetic testing can confirm diagnoses of clinical FH and promote cascade screening for family members. The actual adoption of genetic testing for diagnosis of FH has yet to be quantified using a large, real-world cohort. (Source: Journal of Clinical Lipidology)
Source: Journal of Clinical Lipidology - July 1, 2023 Category: Lipidology Authors: Andrew Ward, McKenna M Nisson, Kanchan Bhasin, Mauro Longoni, Sucheta Bhatt, Fatima Rodriguez, Rajesh Dash, Donghyun Lee Tags: Genetic Disorders Source Type: research
Genetic Variants in Patients with Persistent, Severe Hypertriglyceridemia
Familial chylomicronemia syndrome (FCS), a rare, inherited form of severe hypertriglyceridemia (sHTG), is caused by lipoprotein lipase deficiency resulting from biallelic, pathogenic LPL gene variants with complete penetrance, or in genes integral to LPL activity. FCS causes fasting chylomicronemia with triglycerides>885 mg/dL, decreased LDL and HDL cholesterol, plasma lactescence, hepatosplenomegaly, lipemia retinalis, xanthomas, and life-threatening pancreatitis, and is often treatment refractory from childhood. (Source: Journal of Clinical Lipidology)
Source: Journal of Clinical Lipidology - July 1, 2023 Category: Lipidology Authors: Donna L. Bernstein, Jonathan Lee Respress, Amy Marie Shea Tags: Genetic Disorders Source Type: research
† Cholesterol Efflux Capacity in Patients with or without Type 2 Diabetes Mellitus: A Meta-Analysis
Cholesterol efflux capacity (CEC) is an important measurement in understanding the ability of HDL to promote cholesterol efflux from macrophages, the first step in reverse cholesterol transport. Low CEC is associated with an increased risk of adverse cardiovascular (CV) outcomes. Patients with type 2 diabetes mellitus (T2DM) have a high risk of experiencing cardiovascular events; however, the role of HDL function in CV risk in this patient population is not well understood. (Source: Journal of Clinical Lipidology)
Source: Journal of Clinical Lipidology - July 1, 2023 Category: Lipidology Authors: Gerald Chi, Jane J Lee, Sahar Memar Montazerin, Serge Korjian, Clara Vitarello, Alka Shaunik, C Michael Gibson Tags: HDL Modification or Novel HDL Therapies Source Type: research
