Titre : Hypobêtalipoprotéinémie familiale

Hypobêtalipoprotéinémie familiale : Questions médicales fréquentes

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"@type": "MedicalWebPage", "name": "Prévention", "headline": "Prévention sur Hypobêtalipoprotéinémie familiale", "description": "Peut-on prévenir l'hypobêtalipoprotéinémie familiale ?\nDes conseils génétiques sont-ils utiles ?\nL'éducation sur la maladie est-elle importante ?\nLes tests de dépistage sont-ils recommandés ?\nLes habitudes de vie peuvent-elles influencer la condition ?", "url": "https://recherchemedicale.com/mesh/D052476?page=2#section-prévention" }, { "@type": "MedicalWebPage", "name": "Traitements", "headline": "Traitements sur Hypobêtalipoprotéinémie familiale", "description": "Quel est le traitement principal pour cette condition ?\nLes changements alimentaires sont-ils recommandés ?\nDes médicaments sont-ils prescrits ?\nLa surveillance médicale est-elle nécessaire ?\nLes thérapies géniques sont-elles une option ?", "url": "https://recherchemedicale.com/mesh/D052476?page=2#section-traitements" }, { "@type": "MedicalWebPage", "name": "Complications", "headline": "Complications sur Hypobêtalipoprotéinémie familiale", "description": "Quelles complications peuvent survenir ?\nL'hypobêtalipoprotéinémie augmente-t-elle le risque de maladies ?\nLes complications sont-elles réversibles ?\nDes suivis réguliers peuvent-ils prévenir les complications ?\nLes complications affectent-elles la qualité de vie ?", "url": "https://recherchemedicale.com/mesh/D052476?page=2#section-complications" }, { "@type": "MedicalWebPage", "name": "Facteurs de risque", "headline": "Facteurs de risque sur Hypobêtalipoprotéinémie familiale", "description": "Quels sont les facteurs de risque connus ?\nL'âge influence-t-il le risque ?\nLe mode de vie joue-t-il un rôle ?\nLes facteurs environnementaux sont-ils impliqués ?\nLes femmes sont-elles plus à risque ?", "url": "https://recherchemedicale.com/mesh/D052476?page=2#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@type": "Question", "name": "Comment diagnostiquer l'hypobêtalipoprotéinémie familiale ?", "position": 1, "acceptedAnswer": { "@type": "Answer", "text": "Le diagnostic repose sur des tests sanguins mesurant les niveaux d'apolipoprotéine B." } }, { "@type": "Question", "name": "Quels tests sont utilisés pour le diagnostic ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "text": "Des analyses de lipides et des tests génétiques peuvent être effectués." } }, { "@type": "Question", "name": "Les antécédents familiaux sont-ils importants ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des antécédents familiaux d'hypobêtalipoprotéinémie peuvent indiquer un risque accru." } }, { "@type": "Question", "name": "Quels symptômes peuvent alerter au diagnostic ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "Des symptômes comme des troubles hépatiques ou des problèmes cardiovasculaires peuvent survenir." } }, { "@type": "Question", "name": "L'évaluation clinique est-elle nécessaire ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "Oui, une évaluation clinique complète est essentielle pour un diagnostic précis." } }, { "@type": "Question", "name": "Quels sont les symptômes courants de cette condition ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes peuvent inclure des troubles hépatiques et des anomalies lipidiques." } }, { "@type": "Question", "name": "Peut-on avoir des symptômes sans diagnostic ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certains patients peuvent être asymptomatiques malgré des niveaux bas d'apolipoprotéine B." } }, { "@type": "Question", "name": "Les symptômes varient-ils d'une personne à l'autre ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Oui, l'expression des symptômes peut varier selon les individus et la gravité." } }, { "@type": "Question", "name": "Y a-t-il des signes cutanés associés ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Des xanthomes peuvent apparaître, bien que ce ne soit pas systématique." } }, { "@type": "Question", "name": "Les symptômes peuvent-ils s'aggraver avec l'âge ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certains symptômes peuvent devenir plus prononcés avec l'âge." } }, { "@type": "Question", "name": "Peut-on prévenir l'hypobêtalipoprotéinémie familiale ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "Étant génétique, elle ne peut pas être prévenue, mais une détection précoce aide." } }, { "@type": "Question", "name": "Des conseils génétiques sont-ils utiles ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les conseils génétiques peuvent aider les familles à comprendre les risques." } }, { "@type": "Question", "name": "L'éducation sur la maladie est-elle importante ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Oui, comprendre la maladie aide à mieux gérer les symptômes et les risques." } }, { "@type": "Question", "name": "Les tests de dépistage sont-ils recommandés ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Des tests de dépistage peuvent être recommandés pour les membres de la famille." } }, { "@type": "Question", "name": "Les habitudes de vie peuvent-elles influencer la condition ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Des habitudes de vie saines peuvent aider à gérer les symptômes, mais pas à prévenir." } }, { "@type": "Question", "name": "Quel est le traitement principal pour cette condition ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Il n'existe pas de traitement spécifique, mais une gestion des symptômes est essentielle." } }, { "@type": "Question", "name": "Les changements alimentaires sont-ils recommandés ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "Oui, une alimentation équilibrée peut aider à gérer les niveaux lipidiques." } }, { "@type": "Question", "name": "Des médicaments sont-ils prescrits ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "Des médicaments peuvent être prescrits pour traiter des symptômes spécifiques, comme les troubles hépatiques." } }, { "@type": "Question", "name": "La surveillance médicale est-elle nécessaire ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "Oui, un suivi régulier est crucial pour surveiller l'évolution de la condition." } }, { "@type": "Question", "name": "Les thérapies géniques sont-elles une option ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Actuellement, les thérapies géniques ne sont pas disponibles pour cette condition." } }, { "@type": "Question", "name": "Quelles complications peuvent survenir ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Des complications hépatiques et cardiovasculaires peuvent se développer." } }, { "@type": "Question", "name": "L'hypobêtalipoprotéinémie augmente-t-elle le risque de maladies ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Oui, elle peut augmenter le risque de maladies cardiovasculaires et hépatiques." } }, { "@type": "Question", "name": "Les complications sont-elles réversibles ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Certaines complications peuvent être gérées, mais pas toutes sont réversibles." } }, { "@type": "Question", "name": "Des suivis réguliers peuvent-ils prévenir les complications ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des suivis réguliers permettent de détecter et de gérer les complications précocement." } }, { "@type": "Question", "name": "Les complications affectent-elles la qualité de vie ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les complications peuvent avoir un impact significatif sur la qualité de vie." } }, { "@type": "Question", "name": "Quels sont les facteurs de risque connus ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "Les antécédents familiaux et certaines mutations génétiques sont des facteurs de risque." } }, { "@type": "Question", "name": "L'âge influence-t-il le risque ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "L'âge peut influencer l'apparition des symptômes, mais pas le risque génétique." } }, { "@type": "Question", "name": "Le mode de vie joue-t-il un rôle ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Le mode de vie peut influencer la gestion des symptômes, mais pas le risque génétique." } }, { "@type": "Question", "name": "Les facteurs environnementaux sont-ils impliqués ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Actuellement, les facteurs environnementaux ne sont pas clairement établis comme risques." } }, { "@type": "Question", "name": "Les femmes sont-elles plus à risque ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Le risque est généralement similaire entre les sexes, mais des variations peuvent exister." } } ] } ] }

Sources (10000 au total)

Association of Ratio of Apolipoprotein B to Apolipoprotein A1 With Survival in Peritoneal Dialysis.

Although the ratio of apolipoprotein B (apo B) to apolipoprotein A1 (apo A1) (apo B/apo A1) seems to be associated with mortality in hemodialysis (HD) patients, the association of apo B/apo A1 ratio w... The study targets to examine the relationship of apo B/apo A1 ratio with survival in patients receiving PD treatment.... In this single-center prospective observational cohort study, we enrolled 1,616 patients receiving PD treatment with a median follow-up time of 47.6 months. We used a multivariable Cox proportional ha... During the follow-up, 508 (31.4%) patients died, 249 (49.0%) died from CV events, of which 149 (59.8%) were atherosclerotic CV mortality. In multivariable models, for 1-SD increase in apo B/apo A1 rat... Elevated apo B/apo A1 ratio level was significantly associated with CV, all-cause, and atherosclerotic CV mortality in patients undergoing PD. Moreover, the association was especially statistically si...

Non-alcoholic fatty liver disease in a pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novel

Familial hypobetalipoproteinemia (FHBL) is an autosomal semi-dominant disorder usually caused by variants in the... Genomic DNA was isolated from the blood samples of the pediatric patient with hypocholesterolemia and his parents and brother. Next-generation sequencing (NGS) was performed, and an expanded dyslipide... Genetic investigation revealed the presence of a heterozygous variant in the... We have identified a novel pathogenic variant in the...

Serum apolipoprotein B to apolipoprotein A-I ratio predicts mortality in patients with heart failure.

Apolipoproteins have been reported to be involved in many cardiovascular diseases. The aim of our study was to investigate the prognostic value of apolipoprotein B (ApoB) to apolipoprotein A-I (ApoA-I... We randomly assigned 2400 HF patients into the training cohort (n = 1400) and the validation cohort (n = 1000). Using a receiver operating characteristic curve, we identified the optimal cut-off value... Serum ApoB/ApoA-I ratio is an independent predictor for the prognosis of HF patients....

Apolipoprotein B and Lipid Profile in Italian Children and Adolescents.

The prevention of cardiovascular (CV) disease is mandatory from childhood onwards. Among biochemical markers related to the clinical cardiovascular outcome, LDL cholesterol (LDL-C), non-HDL-C and apol... A retrospective study, including 1877 children and adolescents (aged 0-18 years), was performed. Clinical and biochemical data were selected from a database, including the lipid profile, ApoB analysis... Among the whole sample n.1010 and n.867 participants were females and males, respectively. TC values acceptable (≤170 mg/dL), borderline (171-200 mg/dL) and elevated (≥201 mg/dL) were found in 411 (22... ApoB results increase progressively and in parallel with TC and LDL-C and represent a further parameter to distinguish between normal and hyperlipidemic subjects. Serum levels are close to 70 mg/dL an...

High Apolipoprotein B/Apolipoprotein A1 is Associated with Vitamin D Deficiency Among Type 2 Diabetes Patients.

To explore the relationship between vitamin D (VitD) deficiency and the apolipoprotein B/apolipoprotein A1 (apo B/A1) in type 2 diabetes mellitus (T2DM) patients.... This was a retrospective study that lasted 2 years and 6 months, collecting information and laboratory data from 784 patients with T2DM. Patients were divided into VitD deficiency group (n = 433) and ... Apo B/A1 levels of T2DM patients combined with VitD deficiency was significantly higher than that of non-VitD deficiency patients, and the VitD levels of patients with high apo B/A1 was significantly ... The apo B/A1 was significantly negatively associated with VitD levels and an independent risk factor for VitD deficiency in patients with T2DM....

The association of apolipoprotein B with chronic kidney disease in the Chinese population.

Whether serum apolipoprotein B (ApoB) is a risk factor for the development of Chronic kidney disease (CKD) has not been fully established in the general population. Therefore, our study evaluated the ... There were 146,533 participants in this cross-sectional study. 3,325 participants with more than 2 measurements were enrolled in the retrospective longitudinal study with at least a 3-year follow-up. ... Based on a cross-sectional study, 66.5% of the participants were males, with a median age of 49 (interquartile range [IQR] 43-55). Compared to the non-CKD group, the CKD group has higher levels of lip... Serum ApoB had the strongest correlation with CKD among all lipid variables. Moreover, high serum ApoB levels might precede the occurrence of CKD, suggesting that monitoring and reducing serum ApoB le...