Article
Endocrinology & Metabolism
Wael E. Eid, Emma Hatfield Sapp, Abby Wendt, Amity Lumpp, Carl Miller
Summary: Familial hypercholesterolemia (FH) is underdiagnosed and undertreated in primary care populations. A study using a hybrid model and electronic medical record data accurately identified FH patients and found a higher prevalence of coronary artery disease in these patients. The use of statin and other lipid-lowering therapies was suboptimal.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Review
Peripheral Vascular Disease
Eric P. Tricou, Kelly M. Morgan, Megan Betts, Amy C. Sturm
Summary: This review discusses the utility of genetic testing in identifying and diagnosing individuals with FH. The authors outline the current landscape of genetic testing for FH, provide recommendations for testing practices, and discuss efforts to improve accessibility and uptake. Various alternative approaches to genetic testing and counseling for FH are being explored, including expanding screening programs, testing in primary care or cardiology clinics, using electronic communication tools, and implementing direct contact approaches. There is no consensus on the best approach to genetic testing for FH, and more evidence is needed to determine the most effective strategies.
CURRENT ATHEROSCLEROSIS REPORTS
(2023)
Article
Immunology
Abdulla Watad, Mark Kacar, Nicola Luigi Bragazzi, Qiao Zhou, Miriam Jassam, Jan Taylor, Eve Roman, Alexandra Smith, Richard A. Jones, Howard Amital, Catherine Cargo, Dennis McGonagle, Sinisa Savic
Summary: Research on MDS patients shows that autoinflammatory complications are common, with somatic mutations and abnormal karyotypes being associated with these complications. Autoinflammatory diseases may lead to malignant transformation and poorer prognosis.
FRONTIERS IN IMMUNOLOGY
(2021)
Review
Public, Environmental & Occupational Health
H. Simon Schaaf, Adrie Bekker, Helena Rabie
Summary: The diagnosis and treatment of tuberculosis in young infants is challenging, but it is crucial to assess and manage infants in contact with mothers with tuberculosis to prevent disease progression. Further research is needed for the diagnosis and prevention of tuberculosis during pregnancy.
FRONTIERS IN PUBLIC HEALTH
(2023)
Article
Biology
Zuhier Awan, Nuha Alrayes, Zeenath Khan, Majid Almansouri, Abdul Ibrahim Hussain Bima, Haifa Almukadi, Hussam Ibrahim Kutbi, Preetha Jayasheela Shetty, Noor Ahmad Shaik, Babajan Banaganapalli
Summary: This study identified potential genetic biomarkers for familial hypercholesterolemia (FH) by studying the global gene expression profile of blood cells. Dysregulated expression of genes related to lipid homeostasis, immune responses, and cell adhesion molecules was found in FH patients. The involvement of dysregulated thyroid hormone and ErbB signaling pathways, as well as the enrichment of specific genes, were observed. The key hub genes JAK3, PLCG2, and ZEB2 were identified to contribute to inflammation and immune response related phenotypes. These findings provide insights into the immune dysregulation underlying atherosclerosis among FH patients and may contribute to the development of genomic medicine for cardiovascular diseases.
SAUDI JOURNAL OF BIOLOGICAL SCIENCES
(2022)
Review
Genetics & Heredity
Sibbeliene E. van den Bosch, Willemijn E. Corpeleijn, Barbara A. Hutten, Albert Wiegman
Summary: Familial hypercholesterolemia (FH) is a hereditary disorder that causes severely elevated LDL-C levels, increasing the risk for premature cardiovascular disease. FH can be caused by genetic variants in LDLR, APOB, PCSK9, and/or LDLRAP1 genes. Early diagnosis through screening allows for effective lipid-lowering therapy and cardiovascular imaging. Recent research on the genetic basis of LDL-C metabolism has led to promising therapies, such as PCSK9 inhibitors. Novel therapies focusing on ANGPTL3 inhibition may reduce the need for apheresis in HoFH children without functional LDLR. Developing effective treatments for elevated Lp(a) levels remains a challenge, but understanding its genetic basis may lead to novel therapies.
Review
Pharmacology & Pharmacy
Negin Parsamanesh, Omid Kooshkaki, Haleh Siami, Raul D. Santos, Tannaz Jamialahmadi, Amirhossein Sahebkar
Summary: Familial hypercholesterolemia (FH) is a hereditary illness characterized by high risk of early cardiovascular disease and elevated levels of LDL cholesterol. FH is caused by mutations in genes such as LDL receptor, apolipoprotein B, PCSK9, and LDLR adaptor protein 1. Traditional lipid-lowering therapies have limited effectiveness for FH, especially in homozygous patients. This review discusses gene delivery, gene editing, and stem cell techniques used to correct FH-causing gene variations, including the use of CRISPR/Cas9 gene editing technology.
DRUG DISCOVERY TODAY
(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)
Review
Peripheral Vascular Disease
Amy L. Peterson, Catherine J. McNeal, Don P. Wilson
Summary: Recent studies have shown that patients with FH who were treated with statins from childhood have lower rates of ASCVD-related events and death. Despite slowly improving diagnosis rates of FH, most clinicians do not adhere to recommendations for cholesterol screening in youth. Identifying youth with FH offers the opportunity for early intervention to prevent ASCVD and identify affected relatives through reverse cascade screening.
CURRENT ATHEROSCLEROSIS REPORTS
(2021)
Article
Biochemistry & Molecular Biology
Andrea Anesi, Alessandro Di Minno, Ilenia Calcaterra, Viviana Cavalca, Maria Tripaldella, Benedetta Porro, Matteo Nicola Dario Di Minno
Summary: In FH patients receiving treatment with the PCSK-9 inhibitor Evolocumab, depletion of several phospholipid classes occurs in the plasma, likely involving de novo synthesis of sphingomyelin and ceramide. These changes suggest a multifaceted system leading to vascular improvement in users of PCSK-9 inhibitors.
Article
Pharmacology & Pharmacy
A. Alaqeel, A. Alrashidi
Summary: There are significant gaps in the awareness, knowledge, and practices related to familial hypercholesterolemia (FH) among physicians. Pediatric endocrinologists have the highest levels of knowledge about FH. More extensive educational programs are needed to improve the screening, diagnosis, and management of FH.
EUROPEAN REVIEW FOR MEDICAL AND PHARMACOLOGICAL SCIENCES
(2022)
Article
Clinical Neurology
Emilio Rodriguez-Castro, Susana Arias-Rivas, Maria Santamaria-Cadavid, Iria Lopez-Dequidt, Manuel Rodriguez-Yanez, Antonio Jesus Mosqueira, Miguel Blanco Ulla, Fernando Vazquez Herrero, Jose Antonio Castineira, Elena Martinez-Saez, Edurne Perez Beliz, Nilo Mosquera, Diego Caicedo, Maximo Fraga, Jose Manuel Pumar
Summary: This study analyzed the clinical, radiological, and pathological findings of patients with carotid web (CW) and ipsilateral ischemic events, and the corresponding treatments. The results showed that CW is an underestimated source of cerebral emboli and its diagnosis and treatment are crucial.
JOURNAL OF NEUROLOGY
(2022)
Article
Medicine, General & Internal
Amal Chamli, Anissa Zaouak, Refka Frioui, Samy Fenniche, Houda Hammami
Summary: Familial hypercholesterolemia (FH) is a rare but life-threatening disorder. Skin manifestations, such as eruptive xanthomas and xanthomas anarcus, can be the only symptoms. We report a case of a fifteen-year-old female child with these skin manifestations and a deranged lipid profile consistent with FH. Recognizing these manifestations, especially in younger individuals, is crucial to diagnose hypercholesterolemia timely and prevent serious complications.
CLINICAL CASE REPORTS
(2023)
Review
Medicine, General & Internal
Qingan Fu, Lijuan Hu, Tianzhou Shen, Renqiang Yang, Long Jiang
Summary: The rapid development of gene therapy technology is expected to change the treatment status of FH patients. Emerging gene therapy vectors and RNA-targeted therapies have shown excellent lipid-lowering effects. Using gene editing technologies, patients with FH are expected to reach a permanent cure.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Medicine, General & Internal
Peter Scott Reid, Emma Neville, Frances Cater, Ricky Mullis, Jonathan Mant, Robbie Duschinsky
Summary: This study explores the role of individual responsibility and self-concept in preventative coping behavior among stroke survivors. The findings highlight the need for a better understanding of how self-perception influences coping efforts.
Article
Cardiac & Cardiovascular Systems
Saeed Tofighi, Hamidreza Poorhosseini, Yaser Jenab, Mohammad Alidoosti, Mohammad Sadeghian, Mehdi Mehrani, Zhale Tabrizi, Parisa Hashemi
Summary: This study aimed to predict adverse clinical outcomes in STEMI patients treated with primary PCI using machine learning models. The results showed that the DRF and GBM models had the best performance in predicting major adverse cardiovascular events.
CLINICAL CARDIOLOGY
(2024)