Article
Medicine, General & Internal
Melanie Maltais, Diane Brisson, Daniel Gaudet
Summary: This study found that NAFLD is commonly observed in both MCS and FCS subjects, and even occurred in FCS with lower BMI. Compared to MCS, FCS patients with NAFLD had lower BMI and a negative association with the risk of acute pancreatitis.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Medicine, General & Internal
Akos Nemeth, Mariann Harangi, Balint Daroczy, Lilla Juhasz, Gyorgy Paragh, Peter Fulop
Summary: This study aimed to assess the prevalence of familial chylomicronemia syndrome (FCS) in Central Europe and evaluate the diagnostic applicability of the FCS score. Through the analysis of medical records and machine learning models, it was found that FCS has a higher prevalence in the region, and additional features can improve the accuracy of the FCS score calculation.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Medicine, General & Internal
Adrienn Tuennemann-Tarr, Hubert Scharnagl, Julius L. Katzmann, Paulina Stuerzebecher, Ulrich Laufs
Summary: Familial chylomicronemia syndrome is a genetic disorder associated with increased risk of acute pancreatitis due to severe hypertriglyceridemia. In this case report, treatment with the apoCIII inhibitor volanesorsen significantly reduced serum triglyceride levels in a patient with this syndrome, demonstrating good tolerability and potential efficacy for managing the condition.
Article
Medical Laboratory Technology
Mingying Wang, Yuantao Zhou, Xiaoli He, Chengjun Deng, Xiaoning Liu, Juan Li, Lin Zhou, Ying Li, Yu Zhang, Haifeng Liu, Li Li
Summary: This study aimed to investigate clinical features and genetic causes of familial chylomicronemia syndrome in two family cases. The two probands exhibited extremely high triglycerides levels and new mutation sites in their LPL genes. The mutation in LPL gene might be the cause of familial chylomicronemia syndrome, as confirmed by deficient expression of LPL protein in both families.
CLINICA CHIMICA ACTA
(2021)
Article
Cardiac & Cardiovascular Systems
Wann Jia Loh, Ramesh Bakthavachalam, Tavintharan Subramaniam, Sharon Pek, Fionn Chua, Lester Lee, Gerald F. Watts
Summary: Chylomicronemia can have a monogenic or multifactorial origin. This case report illustrates a patient diagnosed with multifactorial chylomicronemia, with obesity and related lifestyle factors identified as secondary causes. Gene testing revealed variations in APOA5 and GPIHBP1 genes. Through aggressive medical treatment, including weight loss, healthy diet, and medication, the patient achieved normal triglyceride levels.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Article
Genetics & Heredity
Miriam Larouche, Diane Brisson, Marie-Claude Morissette, Daniel Gaudet
Summary: Familial chylomicronemia syndrome (FCS) is a rare disease caused by lipoprotein lipase (LPL) deficiency and is associated with potentially lethal acute pancreatitis risk. Thrombocytopenia has been reported in FCS patients. Platelet count and function post-prandially in FCS have not been studied.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Article
Medicine, General & Internal
Lei Han, Guangfeng Qiang, Lei Yang, Rui Kou, Qiubo Li, Meiyun Xin, Ruihan Liu, Zhengjun Zhang
Summary: This study presents a case of familial chylomicronemia syndrome (FCS) in a male infant and summarizes the experiences on diagnosis and therapy. The accurate diagnosis of FCS was achieved through genetic testing, and a new mutation of lipoprotein lipase gene was identified. Plasma exchange therapy showed good outcomes in treating this case of FCS.
Review
Endocrinology & Metabolism
Mrinali Tripathi, April Wong, Victoria Solomon, Hussein N. Yassine
Summary: The study estimated the prevalence of probable FCS in a major Southern California Academic Center and provided a systematic review of past FCS studies and management recommendations. Using the recommended criteria, probable FCS cases can be identified for early diagnosis and management.
ENDOCRINE PRACTICE
(2021)
Article
Cardiac & Cardiovascular Systems
Josivan Gomes Lima, Lucia Helena C. Nobrega, Flora Tamires Moura Bandeira, Andre Gustavo Pires Sousa, Taisa Barreto Medeiros de Araujo Macedo, Ana Claudia Cavalcante Nogueira, Antonio Fernandes de Oliveira Filho, Renato Jorge Alves, Maria Helane Costa Gurgel Castelo, Fabiana Maria Silva Coelho, Rayana Elias Maia, Debora Nobrega Lima, Ana Rafaela de Souza Timoteo, Julliane Tamara Araujo de Melo Campos
Summary: This study described a novel pathogenic intronic mutation in GPIHBP1 in patients from the Northeast region of Brazil, suggesting the occurrence of a founder effect. This mutation is likely to alter GPIHBP1 pre-mRNA processing and affect around 50% of the domain structure.
Article
Health Care Sciences & Services
Karen Kaiser, Rina S. Fox, Chelsea Perschon, Montserrat Vera-Llonch, Jordi Alonso, Laia Cubells, David Cella
Summary: This study aimed to create a PROMIS-based patient-reported outcome measure that accurately assesses the quality of life for patients with familial chylomicronemia syndrome (FCS). Through literature review and qualitative research, key symptoms and impacts of FCS were identified and a final measurement tool was developed through cognitive interviews with FCS patients.
QUALITY OF LIFE RESEARCH
(2023)
Review
Medical Laboratory Technology
Yunhua Huang, Yuanyuan Qin, Lin Liao, Faquan Lin
Summary: In this study, a case of familial chylomicronemia syndrome (FCS) in an infant with compound heterozygous mutations in the LPL gene was reported. The study emphasizes the importance of individualized plasma lipids management and dietary control in infancy FCS.
CLINICA CHIMICA ACTA
(2022)
Article
Biochemistry & Molecular Biology
Franklin Hanna Rodriguez, Jorge Mario Estrada, Henry Mauricio Arenas Quintero, Juan Patricio Nogueira, Gloria Liliana Porras-Hurtado
Summary: This study describes a screening program and its results for severe hypertriglyceridemia in Colombia. Among the 2415 patients screened, only one patient was diagnosed with familial chylomicronemia syndrome. The study suggests that more programs of this nature should be developed in the region, given the increasing importance of early detection of this metabolic disorder.
LIPIDS IN HEALTH AND DISEASE
(2023)
Article
Entomology
Sali Li, Zhichao Cao, Yuhong Wu, Rui Tang, Shaolei Sun, Zhen Yang, Tong-Xian Liu, Xiangfeng Jing
Summary: This study focused on the function of DGAT1 in Helicoverpa armigera and found that DGAT1 played important roles in triglyceride synthesis in the midgut and ovaries, as well as in reproduction. This work provides valuable information for understanding lipid metabolism in insects.
ENTOMOLOGIA GENERALIS
(2022)
Review
Biochemistry & Molecular Biology
Gyorgy Paragh, Akos Nemeth, Mariann Harangi, Maciej Banach, Peter Fulop
Summary: The prevalence of hypertriglyceridemia is increasing worldwide, with different forms of chylomicronemia syndrome having variable frequencies. Familial chylomicronemia syndrome, a monogenic form, is rare, occurring in 1 in every 1 million persons, while the polygenic form has a prevalence of around 1:600. Genetical alterations, as well as factors like obesity, alcohol consumption, uncontrolled diabetes mellitus, and certain drugs, contribute to the development of the multifactorial form. This review highlights the recent findings on the clinical and laboratory features, differential diagnosis, and epidemiology of monogenic and polygenic forms of chylomicronemias. Treatment options for chylomicronemia and hypertriglyceridemia, with an emphasis on novel therapeutic approaches, are also summarized.
LIPIDS IN HEALTH AND DISEASE
(2022)
Article
Pharmacology & Pharmacy
Maaike E. Straat, Borja Martinez-Tellez, Kimberly J. Nahon, Laura G. M. Janssen, Aswin Verhoeven, Leonie van der Zee, Monique T. Mulder, Sander Kooijman, Mariette R. Boon, Jeanine E. Roeters van Lennep, Christa M. Cobbaert, Martin Giera, Patrick C. N. Rensen
Summary: By combining LC-MS and NMR techniques, this study showed detailed differences in the (apo)lipoprotein profile of patients with genetic HTG. It was found that patients with genetic HTG have higher levels of large lipoproteins and lower levels of small atherogenic LDL particles compared to normolipidemic controls.
JOURNAL OF CLINICAL LIPIDOLOGY
(2022)