Research & Literature

Non-accidental Trauma Work-up: Unusual Retinal Finding Leads to a Rare Diagnosis.

Schoeneberg LA, Aguilera A, Raub L, et al.

Pediatric emergency care 2017; (33(9)):e52-e54 doi:10.1097/PEC.0000000000000584.

Deficient Cholesterol Esterification in Plasma of apoc2 Knockout Zebrafish and Familial Chylomicronemia Patients.

Liu C, Gaudet D, Miller YI

PloS one 2017; (12(1)):e0169939 doi:10.1371/journal.pone.0169939.

The burden of familial chylomicronemia syndrome from the patients' perspective.

Gelrud A, Williams KR, Hsieh A, et al.

Expert review of cardiovascular therapy 2017; (15(11)):879-887 doi:10.1080/14779072.2017.1372193.

Clinical and biochemical features of different molecular etiologies of familial chylomicronemia.

Hegele RA, Berberich AJ, Ban MR, et al.

Journal of clinical lipidology 2018; (12(4)):920-927.e4 doi:10.1016/j.jacl.2018.03.093.

Familial chylomicronemia syndrome: Bringing to life dietary recommendations throughout the life span.

Williams L, Rhodes KS, Karmally W, et al.

Journal of clinical lipidology 2018; (12(4)):908-919 doi:10.1016/j.jacl.2018.04.010.

Pharmacological treatment options for severe hypertriglyceridemia and familial chylomicronemia syndrome.

Chaudhry R, Viljoen A, Wierzbicki AS

Expert review of clinical pharmacology 2018; (11(6)):589-598 doi:10.1080/17512433.2018.1480368.

Familial Chylomicronemia Syndrome: A Clinical Guide For Endocrinologists.

Falko JM

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2018; (24(8)):756-763 doi:10.4158/EP-2018-0157.

Characterizing familial chylomicronemia syndrome: Baseline data of the APPROACH study.

Blom DJ, O'Dea L, Digenio A, et al.

Journal of clinical lipidology 2018; (12(5)):1234-1243.e5 doi:10.1016/j.jacl.2018.05.013.

Chylomicronemia: Differences between familial chylomicronemia syndrome and multifactorial chylomicronemia.

Paquette M, Bernard S, Hegele RA, Baass A

Atherosclerosis 2019; (283()):137-142 doi:10.1016/j.atherosclerosis.2018.12.019.

Familial chylomicronemia syndrome: A rare but devastating autosomal recessive disorder characterized by refractory hypertriglyceridemia and recurrent pancreatitis.

Chyzhyk V, Brown AS

Trends in cardiovascular medicine 2020; (30(2)):80-85 doi:10.1016/j.tcm.2019.03.001.

Structure of lipoprotein lipase in complex with GPIHBP1.

Arora R, Nimonkar AV, Baird D, et al.

Proceedings of the National Academy of Sciences of the United States of America 2019; (116(21)):10360-10365 doi:10.1073/pnas.1820171116.

Volanesorsen: First Global Approval.

Paik J, Duggan S

Drugs 2019; (79(12)):1349-1354 doi:10.1007/s40265-019-01168-z.

Volanesorsen and Triglyceride Levels in Familial Chylomicronemia Syndrome.

Witztum JL, Gaudet D, Freedman SD, et al.

The New England journal of medicine 2019; (381(6)):531-542 doi:10.1056/NEJMoa1715944.

Spectrum of Mutations and Long-Term Clinical Outcomes in Genetic Chylomicronemia Syndromes.

D'Erasmo L, Di Costanzo A, Cassandra F, et al.

Arteriosclerosis, thrombosis, and vascular biology 2019; (39(12)):2531-2541 doi:10.1161/ATVBAHA.119.313401.

Familial chylomicronemia syndrome: an under-recognized cause of severe hypertriglyceridaemia.

Baass A, Paquette M, Bernard S, Hegele RA

Journal of internal medicine 2020; (287(4)):340-348 doi:10.1111/joim.13016.

Chylomicronemia syndrome: Familial or not?

Warden BA, Minnier J, Duell PB, et al.

Journal of clinical lipidology 2020; (14(2)):201-206 doi:10.1016/j.jacl.2020.01.014.

Therapeutic plasma exchange for the management of severe gestational hypertriglyceridaemic pancreatitis due to lipoprotein lipase mutation.

Kim AS, Hakeem R, Abdullah A, et al.

Endocrinology, diabetes & metabolism case reports 2020; (2020()).

A Novel APOC2 Mutation in a Colombian Patient with Recurrent Hypertriglyceridemic Pancreatitis.

Pinilla-Monsalve GD, Lores J, Pachajoa H, et al.

The application of clinical genetics 2020; (13()):63-69 doi:10.2147/TACG.S243148.

Management of a pregnant patient with chylomicronemia from a novel mutation in GPIHBP1: a case report.

Lin MH, Tian XH, Hao XL, et al.

BMC pregnancy and childbirth 2020; (20(1)):272 doi:10.1186/s12884-020-02965-1.

Can genetic testing help in the management of dyslipidaemias?

Lazarte J, Hegele RA

Current opinion in lipidology 2020; (31(4)):187-193 doi:10.1097/MOL.0000000000000690.

Hypertriglyceridemia and acute pancreatitis.

Yang AL, McNabb-Baltar J

Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] 2020; (20(5)):795-800 doi:10.1016/j.pan.2020.06.005.

Evaluation of the chylomicron-TG to VLDL-TG ratio for type I hyperlipoproteinemia diagnostic.

Rioja J, Ariza MJ, García-Casares N, et al.

European journal of clinical investigation 2020; (50(12)):e13345 doi:10.1111/eci.13345.

Volanesorsen in the Treatment of Familial Chylomicronemia Syndrome or Hypertriglyceridaemia: Design, Development and Place in Therapy.

Esan O, Wierzbicki AS

Drug design, development and therapy 2020; (14()):2623-2636 doi:10.2147/DDDT.S224771.

Genetics of Hypertriglyceridemia.

Dron JS, Hegele RA

Frontiers in endocrinology 2020; (11()):455 doi:10.3389/fendo.2020.00455.

A Comprehensive Update on the Chylomicronemia Syndrome.

Goldberg RB, Chait A

Frontiers in endocrinology 2020; (11()):593931 doi:10.3389/fendo.2020.593931.

10-Year Comparative Follow-up of Familial versus Multifactorial Chylomicronemia Syndromes.

Belhassen M, Van Ganse E, Nolin M, et al.

The Journal of clinical endocrinology and metabolism 2021; (106(3)):e1332-e1342 doi:10.1210/clinem/dgaa838.

THE PREVALENCE OF PROBABLE FAMILIAL CHYLOMICRONEMIA SYNDROME IN A SOUTHERN CALIFORNIA POPULATION.

Tripathi M, Wong A, Solomon V, Yassine HN

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2021; (27(1)):71-76 doi:10.4158/EP-2020-0135.

Non-Alcoholic Fatty Liver in Patients with Chylomicronemia.

Maltais M, Brisson D, Gaudet D

Journal of clinical medicine 2021; (10(4)) doi:10.3390/jcm10040669.

Treatment of chylomicronemia.

Navarro Hermoso A, Valdivielso P

Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de Arteriosclerosis 2021; (33 Suppl 2()):75-79 doi:10.1016/j.arteri.2021.01.004.

Volanesorsen for treatment of familial chylomicronemia syndrome.

Lazarte J, Hegele RA

Expert review of cardiovascular therapy 2021; (19(8)):685-693 doi:10.1080/14779072.2021.1955348.

The Effect of a Fat-Restricted Diet in Four Patients with Familial Chylomicronemia Syndrome: A Long-Term Follow-Up Study.

Thajer A, Skacel G, de Gier C, Greber-Platzer S

Children (Basel, Switzerland) 2021; (8(11)) doi:10.3390/children8111078.

Prophylactic therapeutic plasma exchange in pregnant woman with Familial Chylomicronemia Syndrome - A case report.

Pećin I, Leskovar D, Šabić M, et al.

Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis 2022; (61(3)):103346 doi:10.1016/j.transci.2021.103346.

A protein of capillary endothelial cells, GPIHBP1, is crucial for plasma triglyceride metabolism.

Young SG, Song W, Yang Y, et al.

Proceedings of the National Academy of Sciences of the United States of America 2022; (119(36)):e2211136119 doi:10.1073/pnas.2211136119.

Role of lipoprotein lipase activity measurement in the diagnosis of familial chylomicronemia syndrome.

Rioja J, Ariza MJ, Benítez-Toledo MJ, et al.

Journal of clinical lipidology 2023; (17(2)):272-280 doi:10.1016/j.jacl.2023.01.005.

Long-Term Treatment of Lipoprotein Lipase Deficiency with Medium-Chain Triglyceride-Enriched Diet: A Case Series.

Aljouda L, Nagy L, Schulze A

Nutrients 2023; (15(16)) doi:10.3390/nu15163535.

Clinical profile, genetic spectrum and therapy evaluation of 19 Chinese pediatric patients with lipoprotein lipase deficiency.

Xia Y, Zheng W, Du T, et al.

Journal of clinical lipidology 2023; (17(6)):808-817 doi:10.1016/j.jacl.2023.09.012.

Inhibition of Angiopoietin-Like Protein 3 or 3/8 Complex and ApoC-III in Severe Hypertriglyceridemia.

Larouche M, Khoury E, Brisson D, Gaudet D

Current atherosclerosis reports 2023; (25(12)):1101-1111 doi:10.1007/s11883-023-01179-y.

Olezarsen, Acute Pancreatitis, and Familial Chylomicronemia Syndrome.

Stroes ESG, Alexander VJ, Karwatowska-Prokopczuk E, et al.

The New England journal of medicine 2024; (390(19)):1781-1792 doi:10.1056/NEJMoa2400201.

Familial chylomicronemia syndrome: case reports of siblings with deletions of the GPIHBP1 gene.

Kim KY, Heo YJ, Ko JM, et al.

BMC endocrine disorders 2024; (24(1)):47 doi:10.1186/s12902-024-01574-9.

Etiology and emerging treatments for familial chylomicronemia syndrome.

Spagnuolo CM, Hegele RA

Expert review of endocrinology & metabolism 2024; (19(4)):299-306 doi:10.1080/17446651.2024.2365787.

Ethnic Diversity and Distinctive Features of Familial Versus Multifactorial Chylomicronemia Syndrome: Insights From the UK FCS National Registry.

Bashir B, Downie P, Forrester N, et al.

Arteriosclerosis, thrombosis, and vascular biology 2024; (44(11)):2334-2346 doi:10.1161/ATVBAHA.124.320955.

Comparison of Patients With Familial Chylomicronemia Syndrome and Multifactorial Chylomicronemia Syndrome.

Spagnuolo CM, Wang J, McIntyre AD, et al.

The Journal of clinical endocrinology and metabolism 2025; (110(4)):1158-1165 doi:10.1210/clinem/dgae613.

Identification and functional analysis of novel homozygous LMF1 variants in severe hypertriglyceridemia.

Bedoya C, Thomas R, Bjarvin A, et al.

Journal of clinical lipidology 2025; (19(1)):95-104 doi:10.1016/j.jacl.2024.10.004.

Development and validation of clinical criteria to identify familial chylomicronemia syndrome (FCS) in North America.

Hegele RA, Ahmad Z, Ashraf A, et al.

Journal of clinical lipidology 2025; (19(1)):83-94 doi:10.1016/j.jacl.2024.09.008.

Familial chylomicronaemia syndrome in pregnancy - report of two cases managed with plasma exchange.

Dos Santos F, Walji S, Cegla J, et al.

Obstetric medicine 2025; (18(3)):186-189 doi:10.1177/1753495X241283628.

Clinical and molecular characterization of familial chylomicronemia in Saudi patients: a retrospective study.

Al-Ashwal A, AlHelal M, AlSagheir A, et al.

Frontiers in endocrinology 2024; (15()):1439862 doi:10.3389/fendo.2024.1439862.

Familial chylomicronemia: New perspectives.

Blanco Echevarría A, Ariza Corbo MJ, Muñiz-Grijalvo O, Díaz-Díaz JL

Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de Arteriosclerosis 2024; (36 Suppl 2()):S18-S24 doi:10.1016/j.arteri.2024.10.006.

Unmasking a Rare Genetic Mutation: The Importance of Genetic Testing in Refractory Hypertriglyceridemia.

Theodoropoulos P, Fanaropoulou NM, Manessis A

AACE clinical case reports 2024; (10(6)):240-243 doi:10.1016/j.aace.2024.08.006.

Pathogenicity assessment of genetic variants identified in patients with severe hypertriglyceridemia: Novel cases of familial chylomicronemia syndrome from the Dyslipidemia Registry of the Spanish Atherosclerosis Society.

Ariza MJ, Coca-Prieto I, Rioja J, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2025; (27(5)):101365 doi:10.1016/j.gim.2025.101365.

Treatment With Evinacumab Links a New Pathogenic Variant in the LPL Gene to Persistent Chylomicronemia.

Larouche M, Banerjee P, Brisson D, et al.

Journal of the Endocrine Society 2025; (9(4)):bvaf025 doi:10.1210/jendso/bvaf025.

Familial chylomicronemia syndrome: An expert clinical review from the National Lipid Association.

Javed F, Hegele RA, Garg A, et al.

Journal of clinical lipidology 2025; (19(3)):382-403 doi:10.1016/j.jacl.2025.03.013.

Recognition and management of persistent chylomicronemia: A Joint Expert Clinical Consensus by the National Lipid Association and the American Society for Preventive Cardiology.

Saadatagah S, Larouche M, Naderian M, et al.

Journal of clinical lipidology 2025; (19(4)):723-736 doi:10.1016/j.jacl.2025.03.012.

A qualitative study to explore the patient experience of hypertriglyceridemia-related acute pancreatitis.

Kessler AS, Aggio D, Howard EM, et al.

Journal of clinical lipidology 2025; (19(4)):931-941 doi:10.1016/j.jacl.2025.04.190.

Characterization of familial chylomicronemia syndrome in a compound heterozygote for 2 APOA5 nonsense variants.

Mueller PA, Rosario S, Hay J, et al.

Journal of clinical lipidology 2025; (19(4)):1091-1100 doi:10.1016/j.jacl.2025.04.196.

Course of Pregnancies and Occurrence of Acute Pancreatitis in Women With Chylomicronemia.

Larouche M, Bergeron J, Brisson D, et al.

The Journal of clinical endocrinology and metabolism 2026; (111(2)):e455-e461 doi:10.1210/clinem/dgaf409.

Olezarsen for Managing Severe Hypertriglyceridemia and Pancreatitis Risk.

Marston NA, Bergmark BA, Alexander VJ, et al.

The New England journal of medicine 2026; (394(5)):429-441 doi:10.1056/NEJMoa2512761.

Clinical considerations for the treatment of patients with familial chylomicronemia syndrome using a hepatic-targeted APOC3 antisense oligonucleotide.

Bajaj A, Oral EA, Brown A, et al.

American journal of preventive cardiology 2025; (24()):101352 doi:10.1016/j.ajpc.2025.101352.

Prevention and treatment of hypertriglyceridemia-mediated acute pancreatitis: A narrative review.

Subramanian S, Soran H, Sikora Kessler A, et al.

European journal of internal medicine 2025; 106648 doi:10.1016/j.ejim.2025.106648.

Approach to the Adult Patient with Chylomicronemia.

Hegele RA

The Journal of clinical endocrinology and metabolism 2026; (111(3)):845-859 doi:10.1210/clinem/dgaf701.

The Ongoing Utility of lipoprotein lipase activity in diagnosing familial Chylomicronemia Syndrome.

Fariña G, Barchuk M, Sleiman A, et al.

Biochemistry and biophysics reports 2025; (44()):102245 doi:10.1016/j.bbrep.2025.102245.

Olezarsen reduces all-cause health services utilization and improves the treatment experience of patients with familial chylomicronemia syndrome.

Sikora Kessler A, Vera-Llonch M, Karwatowska-Prokopczuk E, et al.

Journal of clinical lipidology 2026; (20(2)):299-309 doi:10.1016/j.jacl.2025.12.018.

Heterogeneous nature of severe hypertriglyceridemia in childhood.

Ariza MJ, Rioja J, Seidel VA, et al.

Journal of clinical lipidology 2026; (20(3)):629-638 doi:10.1016/j.jacl.2025.12.022.

Case Report: Conventional therapy versus volanesorsen in two sisters with familial chylomicronemia syndrome.

Vega J, Torres B, Maiz A, Santos JL

Frontiers in nutrition 2026; (13()):1749264 doi:10.3389/fnut.2026.1749264.

Therapeutic plasmapheresis in a young infant with severe hypertriglyceridemia: a case report.

Choudhary A, James A, Dahake U, et al.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2026; (35(2)):168-172 doi:10.1297/cpe.2025-0061.

Severe Familial Chylomicronemia Syndrome With Refractory Hypertriglyceridemia and Multisystem Complications Managed With Chronic Plasmapheresis and Olezarsen: A Case Report.

Ahmad CM, Kastle RA, Patel H, et al.

Cureus 2026; (18(3)):e105594 doi:10.7759/cureus.105594.

Navigating hypertriglyceridemia in pregnancy: current evidence and clinical strategies.

Chamerski S, Wartecka-Zielińska K, Pomorski F, et al.

Frontiers in endocrinology 2026; (17()):1761761 doi:10.3389/fendo.2026.1761761.

ApoC[III] You Later: A Review of Plozasiran for the Management of Familial Chylomicronemia Syndrome.

Yin EB, Wanat MA, Wang EM

The Annals of pharmacotherapy 2026; 10600280261452675 doi:10.1177/10600280261452675.

Heterozygosity for pathogenic variants in familial chylomicronemia syndrome genes: from carrier state to complex trait.

Hegele RA

Current opinion in lipidology 2026; (37(4)):131-138 doi:10.1097/MOL.0000000000001048.

Plozasiran: a small interfering RNA therapy for hypertriglyceridemia and familial chylomicronemia syndrome.

Rodriguez-Montes J, Hale G, Benny T

Daru : journal of Faculty of Pharmacy, Tehran University of Medical Sciences 2026; (34(2)).

Validation of two familial chylomicronemia syndrome clinical diagnosis scores in a cohort of molecularly defined patients.

Paquette M, Guay SP, Baass A

Journal of clinical lipidology 2026; doi:10.1016/j.jacl.2026.08.002.

Monogenic Familial Chylomicronemia Syndrome in Children: Clinical Divergences and Management Paradigms.

Chan SYC, Yau HC, Chan KY, Fu A

Cureus 2026; (18(8)):e114010 doi:10.7759/cureus.114010.