Doença autossômica recessiva rara caracterizada pelo acúmulo de partículas de gordura no sangue chamadas quilomícrons (quilomicronemia), hipertrigliceridemia grave e risco de pancreatite recorrente e potencialmente fatal e outras complicações. É causada por mutações no gene que codifica a LPL ou, menos frequentemente, por mutações em genes que codificam outras proteínas necessárias para a função da LPL.
Introdução
O que você precisa saber de cara
Doença autossômica recessiva rara caracterizada pelo acúmulo de partículas de gordura no sangue chamadas quilomícrons (quilomicronemia), hipertrigliceridemia grave e risco de pancreatite recorrente e potencialmente fatal e outras complicações. É causada por mutações no gene que codifica a LPL ou, menos frequentemente, por mutações em genes que codificam outras proteínas necessárias para a função da LPL.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 13 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 39 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
4 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.
Key enzyme in triglyceride metabolism. Catalyzes the hydrolysis of triglycerides from circulating chylomicrons and very low density lipoproteins (VLDL), and thereby plays an important role in lipid clearance from the blood stream, lipid utilization and storage (PubMed:11342582, PubMed:27578112, PubMed:8675619). Although it has both phospholipase and triglyceride lipase activities it is primarily a triglyceride lipase with low but detectable phospholipase activity (PubMed:12032167, PubMed:7592706
Cell membraneSecretedSecreted, extracellular space, extracellular matrix
Hyperlipoproteinemia 1
An autosomal recessive metabolic disorder characterized by defective breakdown of dietary fats, impaired clearance of chylomicrons from plasma causing the plasma to have a milky appearance, and severe hypertriglyceridemia. On a normal diet, patients often present with abdominal pain, hepatosplenomegaly, lipemia retinalis, eruptive xanthomata, and massive hypertriglyceridemia, sometimes complicated with acute pancreatitis.
Mediates the transport of lipoprotein lipase LPL from the basolateral to the apical surface of endothelial cells in capillaries (By similarity). Anchors LPL on the surface of endothelial cells in the lumen of blood capillaries (By similarity). Protects LPL against loss of activity, and against ANGPTL4-mediated unfolding (PubMed:27929370, PubMed:29899144). Thereby, plays an important role in lipolytic processing of chylomicrons by LPL, triglyceride metabolism and lipid homeostasis (PubMed:1930457
Apical cell membraneBasolateral cell membraneCell membrane
Hyperlipoproteinemia 1D
An autosomal recessive disorder characterized by hyperlipoproteinemia, decreased plasma LPL levels in some patients, high plasma triglyceride levels, and refractory fasting chylomicronemia.
Component of chylomicrons, very low-density lipoproteins (VLDL), low-density lipoproteins (LDL), and high-density lipoproteins (HDL) in plasma. Plays an important role in lipoprotein metabolism as an activator of lipoprotein lipase. Both proapolipoprotein C-II and apolipoprotein C-II can activate lipoprotein lipase. In normolipidemic individuals, it is mainly distributed in the HDL, whereas in hypertriglyceridemic individuals, predominantly found in the VLDL and LDL
Secreted
Hyperlipoproteinemia 1B
Autosomal recessive trait characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis.
Involved in the maturation of specific proteins in the endoplasmic reticulum. Required for maturation and transport of active lipoprotein lipase (LPL) through the secretory pathway. Each LMF1 molecule chaperones 50 or more molecules of LPL
Endoplasmic reticulum membrane
Combined lipase deficiency
Characterized by repeated episodes of pancreatitis, tuberous xanthomas and lipodystrophy and is caused by deficiency of both lipoprotein lipase (LPL) and hepatic triglyceride lipase (HTGL).
Medicamentos aprovados (FDA)
2 medicamentos encontrados nos registros da FDA americana.
Variantes genéticas (ClinVar)
215 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
9 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Hiperquilomicronemia familiar
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
19 ensaios clínicos encontrados, 5 ativos.
Publicações mais relevantes
Efficacy of Olezarsen in Severe Hypertriglyceridemia and Acute Pancreatitis Risk: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.
Olezarsen has shown efficacy in hypertriglyceridemic and dyslipidemic populations of mixed cohorts, but its effectiveness in severe hypertriglyceridemia(SHTG) is unknown. This is a systematic review and meta-analysis to evaluate the efficacy of olezarsen in SHTG and the associated risk of pancreatitis. PubMed, Embase, and Cochrane databases were systematically searched for published trials comparing olezarsen vs placebo in SHTG patients up to December 03, 2025. We computed mean difference (MD) and risk ratio (RR) with 95% CI for continuous and binary endpoints, respectively, using a random-effects model. Significance level was set with P-value (< 0.05). From 228 database records, three randomized trials involving 1127 patients were included, with a 12-month follow-up. Of these, 748 patients (66.3%) received olezarsen. Olezarsen significantly reduced the mean percentage change from baseline of triglyceride (TG) levels, especially for the non-familial chylomicronemia syndrome(non-FCS) population (MD = - 59.95%; 95% CI - 76.00 to - 43.90; P = .001), of apolipoprotein C-III levels (MD = - 66.68%; 95% CI - 80.86 to - 52.69; P = .0006) at 6 months compared to placebo, albeit with significant heterogeneity. Significant reductions were also observed for other lipid parameters, specifically Non-high-density lipoprotein cholesterol (non-HDL-C) (MD = - 23.72%; 95% CI: - 27.35, - 20.09; P = .00001) and Remnant cholesterol(RC) (MD = - 55.30%;95% CI: - 62.05, -48.56; P = .00001) with an increase in LDL level. Olezarsen reduced the risk of acute pancreatitis (1.2% vs 8.7%; RR = 0.14; 95% CI: 0.07, 0.29; P = .00001) compared to placebo. No significant adverse events were observed between groups. Our analysis suggests olezarsen may be an effective therapeutic option in SHTG for reducing lipids and acute pancreatitis risk. However, its long-term safety and efficacy remain to be explored in future trials in this cohort.
The Approval of Redemplo for Familial Chylomicronemia Syndrome and the Many Flavors of GalNAc-Oligonucleotides.
In the fourth quarter of 2025, a press release announced the approval of the eighth small interfering RNA (siRNA)-based therapeutic. Redemplo (plozasiran), developed by Arrowhead Pharmaceuticals, is the third oligonucleotide-based medicine approved for the treatment of patients with familial chylomicronemia syndrome targeting apolipoprotein C-III. This approval represents the seventh approved siRNA drug based on GalNAc-mediated hepatocyte delivery and introduces the third distinct flavor of this delivery architecture to the clinic.
Genetic dyslipidemias.
Although genetic factors strongly influence lipid metabolism, genetic dyslipidemias refer to specific monogenic defects that significantly alter the function of proteins involved in lipid metabolism. Familial hypercholesterolemia results from mutations in the genes coding for LDL receptor, apolipoprotein B100 (apoB100), PCSK9, or LDLRAP1. The rare homozygous form is severe, with extravascular lipid deposits at an early age and a high incidence of coronary events in childhood, in the absence of early diagnosis. The heterozygous form is more frequent and characterized by elevated plasma LDL cholesterol levels (>190 mg/dL in adults) and a very high risk of premature coronary artery disease (usually before the age of 50 years). Familial chylomicronemia syndrome (FCS) is a major form of genetic hypertriglyceridemia caused by mutations in genes encoding lipoprotein lipase or one of its cofactors (apoC-II, apoA-V, GPIHBP1, or LMF1). Patients with FCS exhibit markedly elevated plasma triglyceride levels (>10 mmol/L) and are at high risk for acute pancreatitis. Congenital familial partial lipodystrophy and glycogen storage diseases are two other forms of genetic hypertriglyceridemia. In addition, other rare genetic dyslipidemias have been described in humans, including familial dysbetalipoproteinemia, abetalipoproteinemia, familial hypobetalipoproteinemia, familial combined hypolipidemia, sitosterolemia, and hypoalphalipoproteinemias.
The evaluation of plozasiran for the treatment of familial chylomicronemia syndrome.
Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder marked by severe hypertriglyceridemia and characteristic clinical manifestations, particularly acute pancreatitis. Conventional triglyceride-lowering therapy is largely ineffective. Apolipoprotein (apo) C-III has emerged as a key therapeutic target to lower triglycerides in FCS. This review compares FCS with more common multifactorial chylomicronemia. We searched PubMed for all English language literature focusing on the search terms 'chylomicronemia,' 'hypertriglyceridemia,' 'APOC3 inhibition,' 'plozasiran,' 'olezarsen,' and 'volanesorsen.' We outline traditional management strategies and their limited role in FCS and explore non-traditional therapies including orlistat, lomitapide, inhibitors of angiopoietin like protein 3 (ANGPTL3), and analogues of fibroblast growth factor 21 (FGF21). The primary focus is on RNA-based gene silencing therapeutics that target apo C-III, particularly the small interfering RNA plozasiran and the allele specific oligonucleotides volanesorsen and olezarsen, highlighting key differences in efficacy and tolerability. In a phase 3 trial of plozasiran, at 10 months, median placebo-adjusted reductions in apo C-III were approximately -90%, while TG levels were reduced up to -59%. Thus, plozasiran and alternative RNA-based therapeutics directed against APOC3 represent transformational therapies for patients with FCS and related phenotypes characterized by severe recalcitrant hypertriglyceridemia.
Post-heparin plasma lipase activities in patients with severe hypertriglyceridemia treated with evinacumab.
Patients with severe hypertriglyceridemia (sHTG) have variable lipoprotein lipase (LPL) activity levels that may influence therapeutic response. This exploratory analysis investigated post-heparin triglyceride lipase and phospholipase activities in three cohorts of patients with sHTG who received evinacumab (angiopoietin-like 3 inhibitor) for 12 or 24 weeks during a phase 2 trial: cohort 1, familial chylomicronemia syndrome with bi-allelic loss-of-function (LOF) LPL pathway mutations; cohort 2, multifactorial chylomicronemia syndrome (MCS) with heterozygous LOF LPL pathway mutations; and cohort 3, MCS without LPL pathway mutations. Post-heparin plasma samples were obtained at baseline and week 24 (end-of-treatment period). Triglyceride lipase activities (LPL and hepatic lipase [HL]) were measured using both a colorimetric and scintillation assays. Phospholipase activities (HL and endothelial lipase [EL]) were measured using a colorimetric assay. Baseline post-heparin LPL triglyceride lipase activity was lowest in cohort 1; treatment with evinacumab for 12 or 24 weeks did not alter activity at week 24 versus baseline across cohorts using the colorimetric assay. Non-HL triglyceride lipase activity (mostly LPL) assessed using the scintillation assay showed significant increase in cohort 1 at 24 weeks versus baseline (P = 0.04). Neither HL nor EL phospholipase activities differed among cohorts or changed with evinacumab treatment. High intra- and inter-patient variability in lipase activity was observed with all methods. Post-heparin LPL triglyceride lipase activity was lower in patients with sHTG with bi-allelic LPL pathway mutations and increased in that group with evinacumab. The high variability in lipase activities observed via differing methods supports the need for more robust assays.
Publicações recentes
Plozasiran (Redemplo) for familial chylomicronemia syndrome.
Milky Blood in a Middle-Aged Man With Diabetes Mellitus: Familial Chylomicronemia Syndrome due to GPIHBP1 Mutation.
Lipoprotein lipase DNA methylation in the adipose tissue of patients with persistent chylomicronemia.
The Approval of Redemplo for Familial Chylomicronemia Syndrome and the Many Flavors of GalNAc-Oligonucleotides.
📚 EuropePMC151 artigos no totalmostrando 198
The Approval of Redemplo for Familial Chylomicronemia Syndrome and the Many Flavors of GalNAc-Oligonucleotides.
Nucleic acid therapeuticsEfficacy of Olezarsen in Severe Hypertriglyceridemia and Acute Pancreatitis Risk: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.
Digestive diseases and sciencesThe evaluation of plozasiran for the treatment of familial chylomicronemia syndrome.
Expert review of endocrinology & metabolismPost-heparin plasma lipase activities in patients with severe hypertriglyceridemia treated with evinacumab.
Journal of lipid researchPlozasiran: First Approval.
Drugs2025 FDA TIDES (Peptides and Oligonucleotides) Harvest.
Pharmaceuticals (Basel, Switzerland)Case Report: Conventional therapy versus volanesorsen in two sisters with familial chylomicronemia syndrome.
Frontiers in nutritionHypertriglyceridemia: updates from clinical trials of new agents and real-world registries.
Current opinion in endocrinology, diabetes, and obesityReversibly reduced lipoprotein lipase in APOA5 c.553G>T-related hypertriglyceridemia successfully treated with pemafibrate.
Endocrinology, diabetes & metabolism case reportsHeterogeneous nature of severe hypertriglyceridemia in childhood.
Journal of clinical lipidologyA delayed diagnosis of familial chylomicronemia syndrome in an elderly patient: Clinical implications of late-onset disease.
Journal of clinical lipidology2025: The year in cardiovascular disease - the year of triglyceride lowering therapies. Can we effectively reduce triglyceride-related residual cardiovascular disease and pancreatitis risk?
Archives of medical science : AMSOlezarsen and Beyond: Emerging Targeted Treatments for Familial Chylomicronemia Syndrome and Related Triglyceride Disorders.
Journal of lipid and atherosclerosisCase Report: Clinical and genetic analysis of a family with hereditary spherocytosis combined with familial chylomicronemia syndrome.
Frontiers in geneticsThe hidden burden of kidney damage in chylomicronemia syndromes.
AtherosclerosisHomozygous variant in LMF-1 identified in 3 Colombian families.
Journal of clinical lipidologyFamilial Chylomicronemia Syndrome-Lipemia Retinalis.
Ophthalmology. RetinaOlezarsen reduces all-cause health services utilization and improves the treatment experience of patients with familial chylomicronemia syndrome.
Journal of clinical lipidologyThe Ongoing Utility of lipoprotein lipase activity in diagnosing familial Chylomicronemia Syndrome.
Biochemistry and biophysics reportsImprovement of severe hypertriglyceridemia in atypical subtype 4 partial lipodystrophy with volanesorsen.
Journal of clinical lipidologyApplication of the North American Familial Chylomicronemia Syndrome Score (NAFCS Score) in monogenic hypertriglyceridemia patients: A single-center Turkish cohort study.
Journal of clinical lipidologyApproach to the Adult Patient with Chylomicronemia.
The Journal of clinical endocrinology and metabolismOlezarsen: A Next-Generation Antisense Therapy for Hypertriglyceridemia and Familial Chylomicronemia Syndrome.
CureusClinical considerations for the treatment of patients with familial chylomicronemia syndrome using a hepatic-targeted APOC3 antisense oligonucleotide.
American journal of preventive cardiologyCourse of Pregnancy in a Woman With Familial Chylomicronemia Syndrome Treated With Plozasiran, a Small Interfering RNA Against ApoC3.
JIMD reportsLong-term efficacy and safety of lomitapide in patients with familial chylomicronemia syndrome: Data from an expanded access program.
Journal of clinical lipidologyAntisense molecules: A promising new therapy for atopic dermatitis.
Acta pharmaceutica Sinica. BGenetic Assessment and Clinical Correlates in Severe Hypertriglyceridemia: A Systematic Review.
GenesAn Updated Review of Novel Triglyceride-Lowering Therapies in Adults with Familial Chylomicronemia Syndrome.
American journal of cardiovascular drugs : drugs, devices, and other interventionsOlezarsen: FDA approval and clinical impact in familial chylomicronemia syndrome (FCS).
Annals of medicine and surgery (2012)Contemporary Management of Familial and Multifactorial Chylomicronemia Syndromes in Italy: Insights From the National LIPIGEN Registry.
Arteriosclerosis, thrombosis, and vascular biologyAnti-apoC-III Therapies and Implications for Treatment of Pancreatitis and Cardiovascular Disease.
Current atherosclerosis reportsA multi-society Delphi consensus statement on the diagnosis of familial chylomicronemia syndrome.
Archives of endocrinology and metabolismRare variant genetic landscape of familial chylomicronemia syndrome (FCS) in the United Kingdom.
Genetics in medicine openBrief communication: Strong concordance of the North American Familial Chylomicronemia Syndrome Score with a positive genetic diagnosis in patients from the Balance study.
Journal of clinical lipidologyA novel homozygous variant in GPIHBP1: A case series of familial chylomicronemia syndrome from Colombia.
Journal of clinical lipidologyLipoprotein lipase deficiency: heterozygotes match homozygotes in severity.
Archives of medical science : AMSPatient experience with familial chylomicronemia syndrome before and after olezarsen treatment: Qualitative interviews with clinical trial participants.
Journal of clinical lipidologyEffect of olezarsen on lipoprotein-associated ApoC-III levels in patients with familial chylomicronemia syndrome.
AtherosclerosisNeurodegeneration in familial chylomicronemia syndrome.
Journal of clinical lipidologyResearch advances in current drugs targeting hyperlipidemia (Review).
Molecular medicine reportsApoC-III as Therapeutic Target: Is it Primetime for Clinical Use?
Current atherosclerosis reportsCourse of Pregnancies and Occurrence of Acute Pancreatitis in Women With Chylomicronemia.
The Journal of clinical endocrinology and metabolismTargeting Triglycerides: The Rise of Apolipoprotein C3 and Angiopoietin-Like Protein 3 Inhibitors.
American journal of cardiovascular drugs : drugs, devices, and other interventionsEffect of olezarsen on routinely measured lipase and amylase levels in familial chylomicronemia syndrome.
Journal of clinical lipidologyGene therapy and genome editing for lipoprotein disorders.
European heart journalExperience with apheretic treatment in the chronic management of severe hypertriglyceridemia: case series.
EndocrineCharacterization of familial chylomicronemia syndrome in a compound heterozygote for 2 APOA5 nonsense variants.
Journal of clinical lipidologyLomitapide-induced fatty liver is a reversible condition: Evidence from a case of familial chylomicronemia syndrome.
Journal of clinical lipidologyReal life evidence of volanesorsen for familial chylomicronemia syndrome in Colombia.
Journal of clinical lipidologyThe ASO drug olezarsen targets familial chylomicronemia syndrome.
Trends in pharmacological sciencesPopulation Pharmacokinetic Modeling of Subcutaneous Plozasiran in Healthy Volunteers and Patients with Familial Chylomicronemia Syndrome, Severe Hypertriglyceridemia, and Mixed Hyperlipidemia.
Journal of clinical pharmacologyA qualitative study to explore the patient experience of hypertriglyceridemia-related acute pancreatitis.
Journal of clinical lipidologyRecognition and management of persistent chylomicronemia: A Joint Expert Clinical Consensus by the National Lipid Association and the American Society for Preventive Cardiology.
Journal of clinical lipidologyCorrigendum to "Familial chylomicronemia syndrome and treatments to target hepatic APOC3 mRNA" [Atherosclerosis (2025) 403 119114].
AtherosclerosisNovel Therapeutics for Familial Chylomicronemia Syndrome.
Current atherosclerosis reportsFamilial chylomicronemia syndrome: An expert clinical review from the National Lipid Association.
Journal of clinical lipidologyOlezarsen for the Treatment of Familial Chylomicronemia Syndrome.
The Annals of pharmacotherapyWhat is the phenotype of heterozygous lipoprotein lipase deficiency?
Current opinion in lipidologyIdentification of a Pathogenic Mutation of the Lipase Maturation Factor 1 (LMF1) Gene Causing Recurrent Pancreatitis and Requiring Critical Care.
Journal of clinical medicineFamilial chylomicronemia syndrome and treatments to target hepatic APOC3 mRNA.
AtherosclerosisTreatment With Evinacumab Links a New Pathogenic Variant in the LPL Gene to Persistent Chylomicronemia.
Journal of the Endocrine SocietyFamilial chylomicronemia syndrome caused by 2 genetic variants in the APOA5 gene: Severe hypertriglyceridemia that complicates pregnancy.
Journal of clinical lipidologyComprehensive analysis of Chinese patients with non-LPL familial chylomicronemia syndrome: Genetic variants, dietary interventions, and clinical insights.
Journal of clinical lipidologyOlezarsen (Tryngolza) for familial chylomicronemia syndrome.
The Medical letter on drugs and therapeuticsCurrent and Emerging Treatment Options for Hypertriglyceridemia: State-of-the-Art Review.
Pharmaceuticals (Basel, Switzerland)Highlights of Cardiovascular Disease Prevention Studies Presented at the 2024 American Heart Association Scientific Sessions.
Current atherosclerosis reportsMolecular Therapeutics in Development to Treat Hyperlipoproteinemia.
Molecular diagnosis & therapyPathogenicity 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.
Genetics in medicine : official journal of the American College of Medical GeneticsLipoprotein Lipase: Structure, Function, and Genetic Variation.
GenesDifferential effects of volanesorsen on apoC-III, triglycerides, and pancreatitis in familial chylomicronemia syndrome diagnosed by genetic or nongenetic criteria.
Journal of clinical lipidologyDNA methylation levels may contribute to severe hypertriglyceridemia in multifactorial chylomicronemia syndrome.
Clinical biochemistryUnmasking a Rare Genetic Mutation: The Importance of Genetic Testing in Refractory Hypertriglyceridemia.
AACE clinical case reportsAn unusual case of type I hyperlipidemia - infant with acute encephalopathy, bulging fontanel, vomiting and pink blood: a case report.
BMC pediatricsFrom the editors: Upcoming treatments for familial chylomicronemia syndrome: Agents that inhibit production of apolipoprotein CIII.
Journal of clinical lipidologyGenetic basis of hypertriglyceridemia.
Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de ArteriosclerosisFamilial chylomicronemia: New perspectives.
Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de ArteriosclerosisClinical and molecular characterization of familial chylomicronemia in Saudi patients: a retrospective study.
Frontiers in endocrinologyBeyond the Obvious: The Missing Pieces in Hypertriglyceridemia-Induced Pancreatitis.
CureusThe Emerging Potential of Apolipoprotein C-III Inhibition for ASCVD Prevention: A State-of-the-Art Review.
Current atherosclerosis reportsDevelopment and validation of clinical criteria to identify familial chylomicronemia syndrome (FCS) in North America.
Journal of clinical lipidologyIdentification and functional analysis of novel homozygous LMF1 variants in severe hypertriglyceridemia.
Journal of clinical lipidologyNutrition Interventions for Youth with Dyslipidemia: Who, What, When, and Where?
Current atherosclerosis reportsOlezarsen and Plozasiran in Dyslipidemia Management: A Narrative Review of Clinical Trials.
High blood pressure & cardiovascular prevention : the official journal of the Italian Society of HypertensionAssessment of Platelet Aggregation and Thrombin Generation in Patients with Familial Chylomicronemia Syndrome Treated with Volanesorsen: A Cross-Sectional Study.
Biomedicines[Olezarsen for the treatment of hypertriglyceridemia and familial chylomicronemia syndrome].
Innere Medizin (Heidelberg, Germany)Olezarsen, a liver-directed APOC3 ASO therapy for hypertriglyceridemia.
Expert opinion on pharmacotherapyComparison of Patients With Familial Chylomicronemia Syndrome and Multifactorial Chylomicronemia Syndrome.
The Journal of clinical endocrinology and metabolismEthnic Diversity and Distinctive Features of Familial Versus Multifactorial Chylomicronemia Syndrome: Insights From the UK FCS National Registry.
Arteriosclerosis, thrombosis, and vascular biologyPlozasiran for Managing Persistent Chylomicronemia and Pancreatitis Risk.
The New England journal of medicineFamilial chylomicronemia syndrome: a novel mutation in the lipoprotein lipase gene.
Acta gastro-enterologica BelgicaSevere Hypertriglyceridemia in Patients with Type 2 Diabetes Mellitus Participating in the AMD Annals Initiative.
Metabolic syndrome and related disordersTwo successful pregnancies -in patients taking Volanesorsen for familial chylomicronemia syndrome.
JIMD reportsDiagnosis and stabilisation of familial chylomicronemia syndrome in two infants presenting with hypertriglyceridemia-induced acute pancreatitis.
JIMD reportsClinical characterization and mutation spectrum of patients with hypertriglyceridemia in a German outpatient clinic.
Journal of lipid researchGermline variant analysis from a cohort of patients with severe hypertriglyceridemia in Brazil.
Molecular genetics and metabolism reportsApolipoprotein C-III, familial chylomicronemia syndrome, and olezarsen.
Med (New York, N.Y.)Monogenic hypertriglyceridemia and recurrent pancreatitis in a homozygous carrier of a rare APOA5 mutation: a case report.
Journal of medical case reportsEtiology and emerging treatments for familial chylomicronemia syndrome.
Expert review of endocrinology & metabolismExchange Transfusion: A Good Option for the Acute Treatment of Familial Chylomicronemia Syndrome in the Neonatal Period.
CureusFamilial chylomicronemia syndrome: case reports of siblings with deletions of the GPIHBP1 gene.
BMC endocrine disordersOlezarsen, Acute Pancreatitis, and Familial Chylomicronemia Syndrome.
The New England journal of medicineCorrigendum to "Volanesorsen and triglyceride levels in familial chylomicronemia syndrome: Long-term efficacy and safety data from patients in an open-label extension trial" [Journal of Clinical Lipidology, Volume 17, Issue 3, May-June 2023, Pages 342-355].
Journal of clinical lipidologySignificant but partial lipoprotein lipase functional loss caused by a novel occurrence of rare LPL biallelic variants.
Lipids in health and diseaseDrug target Mendelian randomization supports apolipoprotein C3-lowering for lipoprotein-lipid levels reductions and cardiovascular diseases prevention.
AtherosclerosisLong-term clinical outcomes and management of hypertriglyceridemia in children with Apo-CII deficiency.
Nutrition, metabolism, and cardiovascular diseases : NMCDIdentification of a Compound Heterozygous LMF1 Variants in a Patient with Severe Hypertriglyceridemia - Case Report and Literature Review.
Journal of atherosclerosis and thrombosisUnderstanding Hypertriglyceridemia: Integrating Genetic Insights.
GenesCross-Sectional Quantitative Evaluation of a Novel Patient-Reported Outcome Measure in Familial Chylomicronemia Syndrome.
Patient related outcome measuresRNA therapeutics for metabolic disorders.
Progress in molecular biology and translational scienceSix-year follow-up of a child with familial chylomicronemia syndrome: disease course and effectiveness of gemfibrozil treatment --case report and literature review.
Annals of pediatric endocrinology & metabolismGenetic variation in apolipoprotein A-V in hypertriglyceridemia.
Current opinion in lipidologyInhibition of Angiopoietin-Like Protein 3 or 3/8 Complex and ApoC-III in Severe Hypertriglyceridemia.
Current atherosclerosis reportsMultifactorial chylomicronemia syndrome.
Current opinion in endocrinology, diabetes, and obesityClinical profile, genetic spectrum and therapy evaluation of 19 Chinese pediatric patients with lipoprotein lipase deficiency.
Journal of clinical lipidologySevere hypertriglyceridemia: Existing and emerging therapies.
Pharmacology & therapeuticsSymptoms and impacts of familial chylomicronemia syndrome: a qualitative study of the patient experience.
Orphanet journal of rare diseasesUpdates in Drug Treatment of Severe Hypertriglyceridemia.
Current atherosclerosis reportsVariability of longitudinal triglyceride phenotype in patients heterozygous for pathogenic APOA5 variants.
Journal of clinical lipidologyFrameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype-phenotype relationship for variants reported to date.
Lipids in health and diseaseSevere Hypertriglyceridemia: A 10-Year Review in a Portuguese Hospital.
CureusPost-prandial analysis of fluctuations in the platelet count and platelet function in patients with the familial chylomicronemia syndrome.
Orphanet journal of rare diseasesCase report: desensitization of hypersensitivity against the antisense oligonucleotide volanesorsen.
Frontiers in allergyNon-alcoholic fatty liver disease in patients with chylomicronemia syndromes.
Journal of clinical lipidologyAPOC3 inhibition with volanesorsen reduces hepatic steatosis in patients with severe hypertriglyceridemia.
Journal of clinical lipidologyVolanesorsen and triglyceride levels in familial chylomicronemia syndrome: Long-term efficacy and safety data from patients in an open-label extension trial.
Journal of clinical lipidologyBrazilian Position Statement for Familial Chylomicronemia Syndrome - 2023.
Arquivos brasileiros de cardiologiaAnalyses of familial chylomicronemia syndrome in Pereira, Colombia 2010-2020: a cross-sectional study.
Lipids in health and diseaseChemistry, structure and function of approved oligonucleotide therapeutics.
Nucleic acids researchEvinacumab in severe hypertriglyceridemia with or without lipoprotein lipase pathway mutations: a phase 2 randomized trial.
Nature medicineRole of lipoprotein lipase activity measurement in the diagnosis of familial chylomicronemia syndrome.
Journal of clinical lipidologyCorrelation between chylomicronemia diagnosis scores and post-heparin lipoprotein lipase activity.
Clinical biochemistryScreening program for familial hyperchylomicronemia syndrome detection: Experience of a university health system.
Archives of endocrinology and metabolismFamilial chylomicronemia syndrome in children: a diagnosis challenge.
Translational pediatricsThe longitudinal triglyceride phenotype in heterozygotes with LPL pathogenic variants.
Journal of clinical lipidologyFamilial chylomicronemia syndrome: importance of diagnostic vigilance.
Translational pediatricsNovel pathogenic variant combination in LPL causing familial chylomicronemia syndrome in an Asian family and experimental validation in vitro: a case report.
Translational pediatricsQualitative development of the PROMIS Profile v1.0-Familial Chylomicronemia Syndrome (FCS) 28.
Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitationFamilial chylomicronemia syndrome caused by compound heterozygous mutation of lipoprotein lipase gene: A case report and review of literature.
Clinica chimica acta; international journal of clinical chemistryFamilial chylomicronemia syndrome: The first case reported in Ecuador.
Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de ArteriosclerosisDrug Therapy for Hypertriglyceridemia and Familial Chylomicronemia Syndrome: Focus on Volnesorsen.
Cardiology in reviewLow circulating PCSK9 levels in LPL homozygous children with chylomicronemia syndrome in a syrian refugee family in Lebanon.
Frontiers in geneticsPlasma exchange therapy for familial chylomicronemia syndrome in infant: A case report.
MedicineFamilial chylomicronemia syndrome. A sixty year follow-up in two siblings and their kindreds. Nosological and clinical considerations.
Journal of clinical lipidologyIdentifying Patients with Familial Chylomicronemia Syndrome Using FCS Score-Based Data Mining Methods.
Journal of clinical medicineSafety and efficacy of therapies for chylomicronemia.
Expert review of clinical pharmacology[Familial chylomicronemia syndrome: pediatric experience in Argentina].
Archivos argentinos de pediatriaThe Evolving Story of Multifactorial Chylomicronemia Syndrome.
Frontiers in cardiovascular medicineThe Use of Orlistat in an Adult with Lipoprotein Lipase Deficiency: A Case Report.
AACE clinical case reportsSevere hypertriglyceridemia secondary to splice-site and missense variants in LMF1 in three patients from Ecuador.
Journal of clinical lipidologyGenetic Lipid Disorders Associated with Atherosclerotic Cardiovascular Disease: Molecular Basis to Clinical Diagnosis and Epidemiologic Burden.
The Medical clinics of North AmericaVolanesorsen: A New Era in the Treatment of Severe Hypertriglyceridemia.
Journal of clinical medicineCauses, clinical findings and therapeutic options in chylomicronemia syndrome, a special form of hypertriglyceridemia.
Lipids in health and diseaseHypertriglyceridemia: rationale, design and implementation of the Australian Hypertriglyceridemia Registry.
Current opinion in endocrinology, diabetes, and obesityHypertriglyceridemia in Youth.
The Journal of pediatricsProphylactic therapeutic plasma exchange in pregnant woman with Familial Chylomicronemia Syndrome - A case report.
Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for HaemapheresisChallenges in familial chylomicronemia syndrome diagnosis and management across Latin American countries: An expert panel discussion.
Journal of clinical lipidologyAyurveda in the management of infant hyperlipidemia: A case report.
Journal of Ayurveda and integrative medicineThe Effect of a Fat-Restricted Diet in Four Patients with Familial Chylomicronemia Syndrome: A Long-Term Follow-Up Study.
Children (Basel, Switzerland)Familial chylomicronemia syndrome due to a heterozygous deletion of the chromosome 8 treated with the apoCIII inhibitor volanesorsen: A case report.
MedicineA Modern Approach to Dyslipidemia.
Endocrine reviewsClinical Management of Hypertriglyceridemia in the Prevention of Cardiovascular Disease and Pancreatitis.
Current atherosclerosis reportsRare Treatments for Rare Dyslipidemias: New Perspectives in the Treatment of Homozygous Familial Hypercholesterolemia (HoFH) and Familial Chylomicronemia Syndrome (FCS).
Current atherosclerosis reportsA Case of Glycogen Storage Disease Type 1a Mimicking Familial Chylomicronemia Syndrome.
Balkan journal of medical genetics : BJMGDevelopment of a novel PRO instrument for use in familial chylomicronemia syndrome.
Journal of patient-reported outcomesTwo novel mutations of the LPL gene in two Chinese family cases with familial chylomicronemia syndrome.
Clinica chimica acta; international journal of clinical chemistryVolanesorsen for treatment of familial chylomicronemia syndrome.
Expert review of cardiovascular therapyRare Variants in Triglycerides-Related Genes Increase Pancreatitis Risk in Multifactorial Chylomicronemia Syndrome.
The Journal of clinical endocrinology and metabolismA novel GPIHBP1 mutation related to familial chylomicronemia syndrome: A series of cases.
AtherosclerosisFamilial Chylomicronemia Syndrome-Induced Acute Necrotizing Pancreatitis during Pregnancy.
Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e ObstetriciaNon-Alcoholic Fatty Liver in Patients with Chylomicronemia.
Journal of clinical medicineTHE PREVALENCE OF PROBABLE FAMILIAL CHYLOMICRONEMIA SYNDROME IN A SOUTHERN CALIFORNIA POPULATION.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical EndocrinologistsFamilial chylomicronemia syndrome: a case report.
Journal of medical case reportsMarked effects of novel selective peroxisome proliferator-activated receptor α modulator, pemafibrate in severe hypertriglyceridemia: preliminary report.
Cardiovascular diabetology10-Year Comparative Follow-up of Familial versus Multifactorial Chylomicronemia Syndromes.
The Journal of clinical endocrinology and metabolismA Comprehensive Update on the Chylomicronemia Syndrome.
Frontiers in endocrinologyInvolvement of a homozygous exon 6 deletion of LMF1 gene in intermittent severe hypertriglyceridemia.
Journal of clinical lipidologyEffectiveness and safety of lomitapide in a patient with familial chylomicronemia syndrome.
EndocrineDevelopment of Antisense Oligonucleotide Gapmers for the Treatment of Dyslipidemia and Lipodystrophy.
Methods in molecular biology (Clifton, N.J.)Development and Clinical Applications of Antisense Oligonucleotide Gapmers.
Methods in molecular biology (Clifton, N.J.)Familial Chylomicronemia Syndrome (FCS): Recent Data on Diagnosis and Treatment.
Current atherosclerosis reportsGenetics of Hypertriglyceridemia.
Frontiers in endocrinologyAnalysis of a Chinese Pedigree With Familial Chylomicronemia Syndrome Reveals Two Novel LPL Mutations by Whole-Exome Sequencing.
Frontiers in genetics2019 George Lyman Duff Memorial Lecture: Three Decades of Examining DNA in Patients With Dyslipidemia.
Arteriosclerosis, thrombosis, and vascular biologyVolanesorsen in the Treatment of Familial Chylomicronemia Syndrome or Hypertriglyceridaemia: Design, Development and Place in Therapy.
Drug design, development and therapyEvaluation of the chylomicron-TG to VLDL-TG ratio for type I hyperlipoproteinemia diagnostic.
European journal of clinical investigationEvaluation of efficacy and safety of antisense inhibition of apolipoprotein C-III with volanesorsen in patients with severe hypertriglyceridemia.
Expert opinion on pharmacotherapyDissection of Clinical and Gene Expression Signatures of Familial versus Multifactorial Chylomicronemia.
Journal of the Endocrine SocietyCan genetic testing help in the management of dyslipidaemias?
Current opinion in lipidologyGenetic testing in dyslipidemia: A scientific statement from the National Lipid Association.
Journal of clinical lipidologyThe burden of familial chylomicronemia syndrome in Canadian patients.
Lipids in health and diseaseEstimating health state utilities associated with a rare disease: familial chylomicronemia syndrome (FCS).
Journal of medical economicsManagement of a pregnant patient with chylomicronemia from a novel mutation in GPIHBP1: a case report.
BMC pregnancy and childbirthExperimental Therapeutics for Challenging Clinical Care of a Patient with an Extremely Rare Homozygous APOC2 Mutation.
Case reports in endocrinologyA Novel APOC2 Mutation in a Colombian Patient with Recurrent Hypertriglyceridemic Pancreatitis.
The application of clinical geneticsPROMIS® and Neuro-QoLTM measures are valid measures of health-related quality of life among patients with familial chylomicronemia syndrome.
Expert review of cardiovascular therapyA lipase fusion feasts on fat.
The Journal of biological chemistryChylomicronemia syndrome: Familial or not?
Journal of clinical lipidologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Hiperquilomicronemia familiar
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Efficacy of Olezarsen in Severe Hypertriglyceridemia and Acute Pancreatitis Risk: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.
- The Approval of Redemplo for Familial Chylomicronemia Syndrome and the Many Flavors of GalNAc-Oligonucleotides.
- Genetic dyslipidemias.
- The evaluation of plozasiran for the treatment of familial chylomicronemia syndrome.
- Post-heparin plasma lipase activities in patients with severe hypertriglyceridemia treated with evinacumab.
- Plozasiran (Redemplo) for familial chylomicronemia syndrome.
- Milky Blood in a Middle-Aged Man With Diabetes Mellitus: Familial Chylomicronemia Syndrome due to GPIHBP1 Mutation.
- Lipoprotein lipase DNA methylation in the adipose tissue of patients with persistent chylomicronemia.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:444490(Orphanet)
- MONDO:0018637(MONDO)
- GARD:6414(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q56014181(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
