Oui, la pancréatite aiguë est une complication courante de l'hyperlipoprotéinémie de type I.
PancréatiteComplicationsHyperlipoprotéinémie
#3
Y a-t-il un risque accru de maladies cardiaques ?
Oui, les niveaux élevés de lipides peuvent augmenter le risque de maladies cardiovasculaires.
Maladies cardiaquesRisqueHyperlipoprotéinémie
#4
Comment prévenir les complications ?
Un suivi médical régulier et un traitement approprié aident à prévenir les complications.
PréventionSuivi médicalComplications
#5
Les complications peuvent-elles être réversibles ?
Certaines complications, comme la pancréatite, peuvent être réversibles avec un traitement approprié.
RéversibilitéPancréatiteTraitement
Facteurs de risque
5
#1
Quels sont les facteurs de risque génétiques ?
Les mutations génétiques dans les gènes liés au métabolisme des lipides sont des facteurs de risque.
Facteurs de risqueMutations génétiquesMétabolisme des lipides
#2
L'obésité est-elle un facteur de risque ?
L'obésité peut aggraver les symptômes, mais n'est pas un facteur de risque direct de type I.
ObésitéFacteurs de risqueHyperlipoprotéinémie
#3
Le mode de vie influence-t-il le risque ?
Oui, un mode de vie sédentaire et une mauvaise alimentation peuvent aggraver la condition.
Mode de vieSédentaritéAlimentation
#4
Les antécédents familiaux augmentent-ils le risque ?
Oui, des antécédents familiaux d'hyperlipoprotéinémie augmentent le risque de développer la maladie.
Antécédents familiauxRisqueHyperlipoprotéinémie
#5
Le sexe influence-t-il le risque ?
Il n'y a pas de preuve claire que le sexe influence le risque d'hyperlipoprotéinémie de type I.
SexeRisqueHyperlipoprotéinémie
{
"@context": "https://schema.org",
"@graph": [
{
"@type": "MedicalWebPage",
"name": "Hyperlipoprotéinémie de type I : Questions médicales les plus fréquentes",
"headline": "Hyperlipoprotéinémie de type I : Comprendre les symptômes, diagnostics et traitements",
"description": "Guide complet et accessible sur les Hyperlipoprotéinémie de type I : explications, diagnostics, traitements et prévention. Information médicale validée destinée aux patients.",
"datePublished": "2024-05-29",
"dateModified": "2025-11-20",
"inLanguage": "fr",
"medicalAudience": [
{
"@type": "MedicalAudience",
"name": "Grand public",
"audienceType": "Patient",
"healthCondition": {
"@type": "MedicalCondition",
"name": "Hyperlipoprotéinémie de type I"
},
"suggestedMinAge": 18,
"suggestedGender": "unisex"
},
{
"@type": "MedicalAudience",
"name": "Médecins",
"audienceType": "Physician",
"geographicArea": {
"@type": "AdministrativeArea",
"name": "France"
}
},
{
"@type": "MedicalAudience",
"name": "Chercheurs",
"audienceType": "Researcher",
"geographicArea": {
"@type": "AdministrativeArea",
"name": "International"
}
}
],
"reviewedBy": {
"@type": "Person",
"name": "Dr Olivier Menir",
"jobTitle": "Expert en Médecine",
"description": "Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale",
"url": "/static/pages/docteur-olivier-menir.html",
"alumniOf": {
"@type": "EducationalOrganization",
"name": "Université Paris Descartes"
}
},
"isPartOf": {
"@type": "MedicalWebPage",
"name": "Erreurs innées du métabolisme lipidique",
"url": "https://questionsmedicales.fr/mesh/D008052",
"about": {
"@type": "MedicalCondition",
"name": "Erreurs innées du métabolisme lipidique",
"code": {
"@type": "MedicalCode",
"code": "D008052",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "C18.452.648.398"
}
}
},
"about": {
"@type": "MedicalCondition",
"name": "Hyperlipoprotéinémie de type I",
"alternateName": "Hyperlipoproteinemia Type I",
"code": {
"@type": "MedicalCode",
"code": "D008072",
"codingSystem": "MeSH"
}
},
"author": [
{
"@type": "Person",
"name": "Yuan-Yuan Chen",
"url": "https://questionsmedicales.fr/author/Yuan-Yuan%20Chen",
"affiliation": {
"@type": "Organization",
"name": "Department of Neonatology, Children's Hospital of Fudan University/National Children's Medical Center, Shanghai 201102, China (Wang J, Email: drwangjin@fudan.edu. cn)."
}
},
{
"@type": "Person",
"name": "Ke Zhang",
"url": "https://questionsmedicales.fr/author/Ke%20Zhang",
"affiliation": {
"@type": "Organization",
"name": "Department of Neonatology, Children's Hospital of Fudan University/National Children's Medical Center, Shanghai 201102, China (Wang J, Email: drwangjin@fudan.edu. cn)."
}
},
{
"@type": "Person",
"name": "Lin Yang",
"url": "https://questionsmedicales.fr/author/Lin%20Yang",
"affiliation": {
"@type": "Organization",
"name": ""
}
},
{
"@type": "Person",
"name": "Olga I Afanasieva",
"url": "https://questionsmedicales.fr/author/Olga%20I%20Afanasieva",
"affiliation": {
"@type": "Organization",
"name": "Institute of Experimental Cardiology Named after Academician V.N. Smirnov, Federal State Budgetary Institution National Medical Research Center of Cardiology Named after Academician E.I. Chazov, Ministry of Health of the Russian Federation, 121552 Moscow, Russia."
}
},
{
"@type": "Person",
"name": "Marat V Ezhov",
"url": "https://questionsmedicales.fr/author/Marat%20V%20Ezhov",
"affiliation": {
"@type": "Organization",
"name": "A.L. Myasnikov Institute of Clinical Cardiology, Federal State Budgetary Institution National Medical Research Center of Cardiology Named after Academician E.I. Chazov, Ministry of Health of the Russian Federation, 121552 Moscow, Russia."
}
}
],
"citation": [
{
"@type": "ScholarlyArticle",
"name": "A Case of Type V Hyperlipoproteinemia Resistant to Insulin Treatment.",
"datePublished": "2023-07-05",
"url": "https://questionsmedicales.fr/article/37546045",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.7759/cureus.41424"
}
},
{
"@type": "ScholarlyArticle",
"name": "Hyperlipoproteinemia (a) and Phytoestrogen Therapy in Dialysis Patients: A Review.",
"datePublished": "2023-07-11",
"url": "https://questionsmedicales.fr/article/37442657",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1016/j.clinthera.2023.06.017"
}
},
{
"@type": "ScholarlyArticle",
"name": "Novel Pharmacological Therapies for the Management of Hyperlipoproteinemia(a).",
"datePublished": "2023-09-03",
"url": "https://questionsmedicales.fr/article/37686428",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.3390/ijms241713622"
}
},
{
"@type": "ScholarlyArticle",
"name": "Genetic and clinical characteristics of patients with lipoprotein lipase deficiency from Slovenia and Pakistan: case series and systematic literature review.",
"datePublished": "2024-06-07",
"url": "https://questionsmedicales.fr/article/38911039",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.3389/fendo.2024.1387419"
}
},
{
"@type": "ScholarlyArticle",
"name": "Long-Term Nutritional Counseling for a Patient with Lipoprotein Lipase Deficiency.",
"datePublished": "2023-03-05",
"url": "https://questionsmedicales.fr/article/36878607",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.5551/jat.63821"
}
}
],
"breadcrumb": {
"@type": "BreadcrumbList",
"itemListElement": [
{
"@type": "ListItem",
"position": 1,
"name": "questionsmedicales.fr",
"item": "https://questionsmedicales.fr"
},
{
"@type": "ListItem",
"position": 2,
"name": "Maladies métaboliques et nutritionnelles",
"item": "https://questionsmedicales.fr/mesh/D009750"
},
{
"@type": "ListItem",
"position": 3,
"name": "Maladies métaboliques",
"item": "https://questionsmedicales.fr/mesh/D008659"
},
{
"@type": "ListItem",
"position": 4,
"name": "Erreurs innées du métabolisme",
"item": "https://questionsmedicales.fr/mesh/D008661"
},
{
"@type": "ListItem",
"position": 5,
"name": "Erreurs innées du métabolisme lipidique",
"item": "https://questionsmedicales.fr/mesh/D008052"
},
{
"@type": "ListItem",
"position": 6,
"name": "Hyperlipoprotéinémie de type I",
"item": "https://questionsmedicales.fr/mesh/D008072"
}
]
}
},
{
"@type": "MedicalWebPage",
"name": "Article complet : Hyperlipoprotéinémie de type I - Questions et réponses",
"headline": "Questions et réponses médicales fréquentes sur Hyperlipoprotéinémie de type I",
"description": "Une compilation de questions et réponses structurées, validées par des experts médicaux.",
"datePublished": "2026-02-06",
"inLanguage": "fr",
"hasPart": [
{
"@type": "MedicalWebPage",
"name": "Diagnostic",
"headline": "Diagnostic sur Hyperlipoprotéinémie de type I",
"description": "Comment diagnostiquer l'hyperlipoprotéinémie de type I ?\nQuels tests sanguins sont utilisés ?\nLes antécédents familiaux sont-ils importants ?\nQuel rôle joue l'échographie dans le diagnostic ?\nPeut-on utiliser une biopsie pour le diagnostic ?",
"url": "https://questionsmedicales.fr/mesh/D008072#section-diagnostic"
},
{
"@type": "MedicalWebPage",
"name": "Symptômes",
"headline": "Symptômes sur Hyperlipoprotéinémie de type I",
"description": "Quels sont les symptômes courants ?\nL'hyperlipoprotéinémie de type I cause-t-elle des douleurs ?\nY a-t-il des signes cutanés associés ?\nLes symptômes varient-ils selon l'âge ?\nPeut-on avoir des symptômes sans élévation des triglycérides ?",
"url": "https://questionsmedicales.fr/mesh/D008072#section-symptômes"
},
{
"@type": "MedicalWebPage",
"name": "Prévention",
"headline": "Prévention sur Hyperlipoprotéinémie de type I",
"description": "Peut-on prévenir l'hyperlipoprotéinémie de type I ?\nQuel rôle joue l'alimentation dans la prévention ?\nLes examens réguliers sont-ils importants ?\nLes conseils génétiques sont-ils utiles ?\nFaut-il éviter certains aliments ?",
"url": "https://questionsmedicales.fr/mesh/D008072#section-prévention"
},
{
"@type": "MedicalWebPage",
"name": "Traitements",
"headline": "Traitements sur Hyperlipoprotéinémie de type I",
"description": "Quel est le traitement principal de cette condition ?\nLes médicaments sont-ils toujours nécessaires ?\nComment un régime alimentaire aide-t-il ?\nY a-t-il des traitements alternatifs ?\nLa thérapie génique est-elle une option ?",
"url": "https://questionsmedicales.fr/mesh/D008072#section-traitements"
},
{
"@type": "MedicalWebPage",
"name": "Complications",
"headline": "Complications sur Hyperlipoprotéinémie de type I",
"description": "Quelles sont les complications possibles ?\nLa pancréatite est-elle fréquente ?\nY a-t-il un risque accru de maladies cardiaques ?\nComment prévenir les complications ?\nLes complications peuvent-elles être réversibles ?",
"url": "https://questionsmedicales.fr/mesh/D008072#section-complications"
},
{
"@type": "MedicalWebPage",
"name": "Facteurs de risque",
"headline": "Facteurs de risque sur Hyperlipoprotéinémie de type I",
"description": "Quels sont les facteurs de risque génétiques ?\nL'obésité est-elle un facteur de risque ?\nLe mode de vie influence-t-il le risque ?\nLes antécédents familiaux augmentent-ils le risque ?\nLe sexe influence-t-il le risque ?",
"url": "https://questionsmedicales.fr/mesh/D008072#section-facteurs de risque"
}
]
},
{
"@type": "FAQPage",
"mainEntity": [
{
"@type": "Question",
"name": "Comment diagnostiquer l'hyperlipoprotéinémie de type I ?",
"position": 1,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le diagnostic repose sur des tests sanguins mesurant les niveaux de triglycérides et l'analyse génétique."
}
},
{
"@type": "Question",
"name": "Quels tests sanguins sont utilisés ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des dosages de lipides, notamment des triglycérides et des chylomicrons, sont effectués."
}
},
{
"@type": "Question",
"name": "Les antécédents familiaux sont-ils importants ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des antécédents familiaux d'hyperlipoprotéinémie peuvent indiquer un risque accru."
}
},
{
"@type": "Question",
"name": "Quel rôle joue l'échographie dans le diagnostic ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "L'échographie peut détecter des signes de pancréatite ou d'autres complications liées."
}
},
{
"@type": "Question",
"name": "Peut-on utiliser une biopsie pour le diagnostic ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une biopsie n'est généralement pas nécessaire pour diagnostiquer cette condition."
}
},
{
"@type": "Question",
"name": "Quels sont les symptômes courants ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes incluent des douleurs abdominales, des éruptions cutanées et des troubles digestifs."
}
},
{
"@type": "Question",
"name": "L'hyperlipoprotéinémie de type I cause-t-elle des douleurs ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des douleurs abdominales peuvent survenir en raison de la pancréatite aiguë."
}
},
{
"@type": "Question",
"name": "Y a-t-il des signes cutanés associés ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des éruptions cutanées, comme des xanthomes, peuvent apparaître sur la peau."
}
},
{
"@type": "Question",
"name": "Les symptômes varient-ils selon l'âge ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les symptômes peuvent se manifester dès l'enfance ou à l'âge adulte."
}
},
{
"@type": "Question",
"name": "Peut-on avoir des symptômes sans élévation des triglycérides ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certains patients peuvent présenter des symptômes sans élévation significative des triglycérides."
}
},
{
"@type": "Question",
"name": "Peut-on prévenir l'hyperlipoprotéinémie de type I ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "Étant génétique, elle ne peut pas être prévenue, mais des mesures peuvent réduire les symptômes."
}
},
{
"@type": "Question",
"name": "Quel rôle joue l'alimentation dans la prévention ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une alimentation équilibrée peut aider à gérer les symptômes et à éviter les complications."
}
},
{
"@type": "Question",
"name": "Les examens réguliers sont-ils importants ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des examens réguliers permettent de surveiller les niveaux de lipides et d'ajuster le traitement."
}
},
{
"@type": "Question",
"name": "Les conseils génétiques sont-ils utiles ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les conseils génétiques peuvent aider les familles à comprendre le risque et la gestion."
}
},
{
"@type": "Question",
"name": "Faut-il éviter certains aliments ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, il est conseillé d'éviter les aliments riches en graisses saturées et en sucres."
}
},
{
"@type": "Question",
"name": "Quel est le traitement principal de cette condition ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le traitement principal consiste en un régime alimentaire strict et des médicaments hypolipémiants."
}
},
{
"@type": "Question",
"name": "Les médicaments sont-ils toujours nécessaires ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les médicaments peuvent être nécessaires pour contrôler les niveaux de lipides."
}
},
{
"@type": "Question",
"name": "Comment un régime alimentaire aide-t-il ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un régime pauvre en graisses et en sucres simples aide à réduire les triglycérides."
}
},
{
"@type": "Question",
"name": "Y a-t-il des traitements alternatifs ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des traitements alternatifs comme les oméga-3 peuvent être envisagés, mais avec prudence."
}
},
{
"@type": "Question",
"name": "La thérapie génique est-elle une option ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "La thérapie génique est en recherche, mais pas encore une option standard pour cette condition."
}
},
{
"@type": "Question",
"name": "Quelles sont les complications possibles ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent la pancréatite aiguë, les maladies cardiovasculaires et le diabète."
}
},
{
"@type": "Question",
"name": "La pancréatite est-elle fréquente ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la pancréatite aiguë est une complication courante de l'hyperlipoprotéinémie de type I."
}
},
{
"@type": "Question",
"name": "Y a-t-il un risque accru de maladies cardiaques ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les niveaux élevés de lipides peuvent augmenter le risque de maladies cardiovasculaires."
}
},
{
"@type": "Question",
"name": "Comment prévenir les complications ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un suivi médical régulier et un traitement approprié aident à prévenir les complications."
}
},
{
"@type": "Question",
"name": "Les complications peuvent-elles être réversibles ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications, comme la pancréatite, peuvent être réversibles avec un traitement approprié."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque génétiques ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les mutations génétiques dans les gènes liés au métabolisme des lipides sont des facteurs de risque."
}
},
{
"@type": "Question",
"name": "L'obésité est-elle un facteur de risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "L'obésité peut aggraver les symptômes, mais n'est pas un facteur de risque direct de type I."
}
},
{
"@type": "Question",
"name": "Le mode de vie influence-t-il le risque ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, un mode de vie sédentaire et une mauvaise alimentation peuvent aggraver la condition."
}
},
{
"@type": "Question",
"name": "Les antécédents familiaux augmentent-ils le risque ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des antécédents familiaux d'hyperlipoprotéinémie augmentent le risque de développer la maladie."
}
},
{
"@type": "Question",
"name": "Le sexe influence-t-il le risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Il n'y a pas de preuve claire que le sexe influence le risque d'hyperlipoprotéinémie de type I."
}
}
]
}
]
}
Department of Neonatology, Children's Hospital of Fudan University/National Children's Medical Center, Shanghai 201102, China (Wang J, Email: drwangjin@fudan.edu. cn).
Publications dans "Hyperlipoprotéinémie de type I" :
Department of Neonatology, Children's Hospital of Fudan University/National Children's Medical Center, Shanghai 201102, China (Wang J, Email: drwangjin@fudan.edu. cn).
Publications dans "Hyperlipoprotéinémie de type I" :
Institute of Experimental Cardiology Named after Academician V.N. Smirnov, Federal State Budgetary Institution National Medical Research Center of Cardiology Named after Academician E.I. Chazov, Ministry of Health of the Russian Federation, 121552 Moscow, Russia.
Publications dans "Hyperlipoprotéinémie de type I" :
A.L. Myasnikov Institute of Clinical Cardiology, Federal State Budgetary Institution National Medical Research Center of Cardiology Named after Academician E.I. Chazov, Ministry of Health of the Russian Federation, 121552 Moscow, Russia.
Publications dans "Hyperlipoprotéinémie de type I" :
Ciccarone Center for the Prevention of Cardiovascular Disease, Division of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Publications dans "Hyperlipoprotéinémie de type I" :
Ciccarone Center for the Prevention of Cardiovascular Disease, Division of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Publications dans "Hyperlipoprotéinémie de type I" :
Ciccarone Center for the Prevention of Cardiovascular Disease, Division of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Publications dans "Hyperlipoprotéinémie de type I" :
Ciccarone Center for the Prevention of Cardiovascular Disease, Division of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Welch Center for Prevention, Epidemiology, and Clinical Research, Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA.
Publications dans "Hyperlipoprotéinémie de type I" :
Information Materials and Intelligent Sensing Laboratory of Anhui Province, Institutes of Physical Science and Information Technology, Anhui University, Hefei 230601, P. R. China.
Publications dans "Hyperlipoprotéinémie de type I" :
Information Materials and Intelligent Sensing Laboratory of Anhui Province, Institutes of Physical Science and Information Technology, Anhui University, Hefei 230601, P. R. China.
Publications dans "Hyperlipoprotéinémie de type I" :
Key Laboratory of Materials Physics, Anhui Key Laboratory of Nanomaterials and Nanotechnology, Institute of Solid State Physics, Hefei Institutes of Physical Science, Chinese Academy of Sciences, Hefei 230031, P.R. China. liliang@issp.ac.cn.
University of Science and Technology of China, Hefei 230026, P.R. China.
Publications dans "Hyperlipoprotéinémie de type I" :
Information Materials and Intelligent Sensing Laboratory of Anhui Province, Institutes of Physical Science and Information Technology, Anhui University, Hefei 230601, P. R. China.
Publications dans "Hyperlipoprotéinémie de type I" :
Information Materials and Intelligent Sensing Laboratory of Anhui Province, Institutes of Physical Science and Information Technology, Anhui University, Hefei 230601, P. R. China.
Publications dans "Hyperlipoprotéinémie de type I" :
Type V hyperlipoproteinemia or multifactorial chylomicronemia syndrome is a rare lipid disorder triggered mainly by uncontrolled diabetes, obesity, poor diet, or particular medications. It is associat...
Hyperlipoproteinemia (a) is a prevalent complication in dialysis patients, with no valid treatment strategy. The aim of this narrative review was to investigate the clinical significance of hyperlipop...
A comprehensive literature search of the published data was performed regarding the effects of phytoestrogen therapy on hyperlipoproteinemia (a) in dialysis patients....
Hyperlipoproteinemia (a) occurs in dialysis patients due to decreased catabolism and increased synthesis of lipoprotein (a) [Lp(a)]. A few clinical trials have studied the effects of phytoestrogens on...
Considering the high prevalence of hyperlipoproteinemia (a) in dialysis patients, phytoestrogen therapy is a reasonable approach for reducing serum Lp(a) levels and its complications in these patients...
Lipoprotein(a) [Lp(a)] is a well-established risk factor for cardiovascular disease, predisposing to major cardiovascular events, including coronary heart disease, stroke, aortic valve calcification a...
Hypertriglyceridemia (HTG) is a complex disorder caused by genetic and environmental factors that frequently results from loss-of-function variants in the gene encoding lipoprotein lipase (LPL). Heter...
We described the clinical characteristics of three Slovenian patients (an 8-year-old female, an 18-year-old man, and a 57-year-old female) and one Pakistani patient (a 59-year-old male) with LPL defic...
Two Slovenian patients with a heterozygous pathogenic variant NM_000237.3:c.984G>T (p.Met328Ile) were diagnosed within the first three years of life and had triglyceride (TG) values of 16 and 20 mmol/...
Patients with LPL deficiency had high TG levels at diagnosis. Homozygous patients had worse outcomes. Good diet and medication compliance can reduce severity....
A one-year-and-nine-month-old Japanese boy was admitted with hypertriglyceridemia (fasting triglycerides 2548 mg/dL). After close examination, he was diagnosed with lipoprotein lipase (LPL) deficiency...
Severe hypertriglyceridemia (sHTG), defined as a triglyceride (TG) concentration ≥ 500 mg/dL (≥ 5.7 mmol/L) is an important risk factor for acute pancreatitis. Although lifestyle, some medications, an...
The VOL4002 study assessed the efficacy and safety of volanesorsen in 22 adults with genetically confirmed familial chylomicronaemia syndrome (FCS) treated in the UK Early Access to Medicines Scheme (...
Data collection focused on triglyceride (TG) levels, platelet counts and pancreatitis events. Pancreatitis incidence during volanesorsen treatment was compared against the 5-year period preceding vola...
Individual patient volanesorsen exposure ranged from 6 to 51 months (total cumulative exposure, 589 months). Among treatment-naive patients (n = 12), volanesorsen treatment resulted in an averaged med...
This longitudinal study supports the efficacy of volanesorsen in patients with FCS for lowering TG levels over treatment periods up to 51 months with no apparent safety signals related to increased du...
Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive metabolic disorder caused by mutations related to chylomicron metabolism. The objective of this study is to show the development a...
A cross-sectional study was performed. All patients > 18 years with a triglyceride level ≥ 1,000 mg/dL in the period from January 1, 2017 to December 31, 2021 were included. The program was developed ...
Globally, 348 suspected laboratory cases (mean age of 49.9 years, 77.3% men) were included. The median triglycerides level was 1,309 mg/dL (interquartile range 1,175-1,607 mg/dL). In total, 231 patien...
This study shows a screening program for the detection of FCS. Although no patient was diagnosed with FCS, we believe that more programs of these characteristics should be developed in our region, giv...
Homozygous mutations in the APOA5 gene constitute a rare cause of monogenic hypertriglyceridemia, or familial chylomicronemia syndrome (FCS). We searched PubMed and identified 16 cases of homozygous m...
We report a case of a 25-years old Afghani male presenting with acute pancreatitis due to severe hypertriglyceridemia up to 29.8 mmol/L caused by homozygosity in APOA5 (c.427delC, p.Arg143Alafs*57). A...
Our case reports a rare yet potentially life-threatening condition-monogenic hypertriglyceridemia-induced acute pancreatitis. The implementation of the antisense drug volanesorsen resulted in improved...
Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive metabolic disorder caused by mutations in genes involved in chylomicron metabolism. On the other hand, multifactorial chylomicrone...
A cross-sectional study was performed. All patients aged >18 years with triglyceride levels ≥500 mg/dL from 2010 to 2020 were included. The program was developed in three stages: 1. Review of electron...
In total, we categorized 2415 patients as suspected clinical cases with a mean age of 53 years, of which 68% corresponded to male patients. The mean triglyceride levels were 705.37 mg/dL (standard dev...
This study describes a screening program for the detection of severe hypertriglyceridemia. Although we identified seven patients as carriers of a variant in the APOA5 gene, we diagnosed only one patie...