Article
Medicine, General & Internal
Radoslaw Motkowski, Pawel Abramowicz, Jolanta Kubalska, Bozena Mikoluc, Jerzy Konstantynowicz
Summary: This retrospective cohort study presented the 20-year experience of comprehensive care for pediatric patients with familial hypercholesterolemia in a single academic center. The study demonstrated that statin treatment in children with FH is highly effective and safe.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Medicine, General & Internal
Liv J. Mundal, Jannicke Igland, Karianne Svendsen, Kirsten B. Holven, Trond P. Leren, Kjetil Retterstol
Summary: This study aimed to investigate the association between familial hypercholesterolemia (FH) and risk of dementia, as well as the relationship between statin use and dementia risk in individuals with FH. The findings showed that individuals with FH did not have an excess risk of dementia compared to age-matched and sex-matched controls, and there was no association between statin use and dementia risk in patients with FH.
Article
Cardiac & Cardiovascular Systems
Julia Brandts, Kausik K. Ray
Summary: Early detection of FH and normalization of LDL cholesterol levels are crucial for preventing cardiovascular disease. Various treatments targeting LDL receptor-dependent and independent pathways can be used to manage FH effectively.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2021)
Article
Medicine, General & Internal
Georgios Benetos, Spyros Galanakos, Iosif Koutagiar, Ioannis Skoumas, Georgios Oikonomou, Maria Drakopoulou, Maria Karmpalioti, Vasiliki Katsi, Costas Tsioufis, Konstantinos Toutouzas
Summary: This study found that hypolipidemic therapy (including simvastatin or simvastatin plus ezetimibe) significantly reduced carotid artery temperatures in patients with familial hyperlipidemia syndromes, while there was no significant change in untreated patients.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Cardiac & Cardiovascular Systems
Anatoly Langer, G. B. John Mancini, Mary Tan, Shaun G. Goodman, Vineeta Ahooja, Jean Gregoire, Peter J. Lin, James A. Stone, Lawrence A. Leiter
Summary: The study identified significant treatment inertia in patients with familial hypercholesterolemia (FH), especially in those with concurrent cardiovascular disease (CVD). Patients with FH initially had higher baseline low-density lipoprotein levels but were less likely to achieve recommended treatment targets compared to those with CVD. Education efforts should be focused on improving treatment outcomes for patients with FH.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2021)
Article
Biochemistry & Molecular Biology
Alvaro Cerda, Raul Hernandes Bortolin, Marcos Yukio Yoshinaga, Renata Caroline Costa de Freitas, Carolina Dagli-Hernandez, Jessica Bassani Borges, Victor Fernandes de Oliveira, Rodrigo Marques Goncalves, Andre Arpad Faludi, Gisele Medeiros Bastos, Rosario Dominguez Crespo Hirata, Mario Hiroyuki Hirata
Summary: This study aimed to explore the effects of statin treatment on the serum lipidomic profile and identify biomarkers of response in patients with familial hypercholesterolemia (FH). The results suggest that statin treatment extensively modulates the overall serum lipid composition of FH individuals, and phosphatidyl-inositol molecules may serve as potential predictive biomarkers of statin response.
CHEMISTRY AND PHYSICS OF LIPIDS
(2023)
Article
Medicine, General & Internal
Anselm K. Gitt, Ulrich Laufs, Winfried Marz, W. Dieter Paar, Peter Bramlage, Nikolaus Marx, Klaus G. Parhofer
Summary: This study provides insights into the clinical characteristics and current treatment status of patients with FH in Germany. Many patients with FH fail to achieve recommended lipid levels.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Cardiac & Cardiovascular Systems
Anandita Agarwala, Nathan Bekele, Elena Deych, Michael W. Rich, Aliza Hussain, Laney K. Jones, Amy C. Sturm, Karen Aspry, Elizabeth Nowak, Zahid Ahmad, Christie M. Ballantyne, Anne C. Goldberg
Summary: Black patients with familial hypercholesterolemia have similar prevalence of ASCVD compared to European Ancestry patients, but show greater prevalence of modifiable risk factors such as obesity, hypertension, diabetes, and smoking. They also have lower usage of lipid-lowering agents. The strongest predictors of ASCVD in Black patients were hypertension and cigarette smoking, indicating the importance of managing blood pressure and promoting smoking cessation in this population.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2021)
Article
Cardiac & Cardiovascular Systems
Marianne Klevmoen, Martin P. Bogsrud, Kjetil Retterstol, Tone Svilaas, Elisabeth K. Vesterbekkmo, Anders Hovland, Christ Berge, Jeanine Roeters van Lennep, Kirsten B. Holven
Summary: This study aimed to determine the duration of off-statin periods in women with familial hypercholesterolemia during pregnancy and breastfeeding. The results showed that Norwegian women breastfed more and longer compared to Dutch women, with the majority of women expressing the need for more information on pregnancy and breastfeeding related to FH.
Article
Cardiac & Cardiovascular Systems
Elisenda Climent, Victoria Marco-Benedi, David Benaiges, Xavier Pinto, Manuel Suarez-Tembra, Nuria Plana, Hannia Lafuente, Emilio Ortega-Martinez de Victoria, Angel Brea-Hernando, Alex Vila, Fernando Civeira, Juan Pedro-Botet
Summary: This study aimed to compare the lipid response to different types and doses of statins in HeFH patients. It found that rosuvastatin was the most potent statin, with atorvastatin and simvastatin being nearly equivalent at maximum dosage. Patients with a positive genetic diagnosis of HeFH had a lower lipid-lowering response, and approximately 1 in 5 patients on high-intensity statin therapy showed suboptimal response.
NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES
(2021)
Article
Endocrinology & Metabolism
Berit Storgaard Hedegaard, Borge Gronne Nordestgaard, Helle Lynge Kanstrup, Kristian Korsgaard Thomsen, Jan Bech, Lia Evi Bang, Finn Lund Henriksen, Lars Juel Andersen, Thomas Gohr, Linnea Hornbech Larsen, Anne Merete Boas Soja, Frank-Peter Elpert, Tomas Joen Jakobsen, Anette Sjol, Albert Marni Joensen, Ib Christian Klausen, Erik Berg Schmidt, Christian Sorensen Bork
Summary: This study investigated the presence of lipoprotein(a) in individuals referred to Danish lipid clinics and found that elevated lipoprotein(a) played a role in a quarter of individuals who met the diagnosis criteria for clinical familial hypercholesterolemia (FH).
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Peripheral Vascular Disease
Ryo Naito, Hiroyuki Daida, Daisaku Masuda, Mariko Harada-Shiba, Hidenori Arai, Hideaki Bujo, Shun Ishibashi, Nobuhiko Koga, Shinichi Oikawa, Shizuya Yamashita
Summary: This study investigated the distribution of serum Lp(a) levels and their associations with other lipid profiles and clinical conditions in a Japanese cohort of FH patients. The results showed a skewed distribution of Lp(a) levels and positive relationships with Apo B and Apo E levels.
JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS
(2022)
Article
Medicine, General & Internal
Victoria Marco-Benedi, Martin Laclaustra, Rosa M. Sanchez-Hernandez, Emilio Ortega-Martinez De Victoria, Juan Pedro-Botet, Jose Puzo, Fernando Civeira
Summary: This study investigated the prevalence of cataract surgery among elderly patients with genetically diagnosed heterozygous familial hypercholesterolemia (HeFH) receiving statin treatment for at least 5 years, finding no significant difference in cataract surgery rates between HeFH patients and controls. Factors related to cataract surgery were not associated with LDL cholesterol levels or the duration of statin therapy, suggesting that statin treatment is not a risk factor for cataracts.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Nutrition & Dietetics
Lukas Konecny, Marcel Hrubsa, Jana Karlickova, Alejandro Carazo, Lenka Javorska, Katerina Matousova, Lenka Kujovska Krcmova, Alena Smahelova, Vladimir Blaha, Milan Blaha, Premysl Mladenka
Summary: This study analyzed the antiplatelet effect of 4-MC in FH patients and compared its impact on two FH treatment modalities. The results showed that 4-MC had a stronger inhibitory effect on collagen-induced platelet aggregation in FH patients compared to the healthy control group. The study also found that apheresis improved the inhibitory effect of 4-MC on platelet aggregation, and patients treated with apheresis and pretreated with 4-MC had lower platelet aggregability compared to those solely treated with PCKS9Ab. This study confirmed the suitability of 4-MC as a promising antiplatelet agent and demonstrated its effect in patients with a genetic metabolic disease for the first time.
Article
Medicine, General & Internal
Joanna Lewek, Agnieszka Konopka, Ewa Starostecka, Peter E. Penson, Marek Maciejewski, Maciej Banach
Summary: The study found that despite earlier diagnosis in children, they presented with higher mean levels of LDL-C compared to adults. There is still an urgent need for effective lipid-lowering therapy in FH patients, especially the greater use of combination therapy.
JOURNAL OF CLINICAL MEDICINE
(2021)
