A Hiperlipoproteinemia tipo 3 (HLP tipo 3) é uma condição rara de excesso de gordura no sangue, que afeta tanto o colesterol quanto os triglicerídeos em níveis elevados. Essas gorduras são transportadas no sangue por partículas específicas chamadas lipoproteínas de densidade intermediária (IDLs). Ela está associada a um alto risco de entupimento precoce das artérias (aterosclerose) e de doenças do coração e dos vasos sanguíneos (doenças cardiovasculares).
Introdução
O que você precisa saber de cara
A Hiperlipoproteinemia tipo 3 (HLP tipo 3) é uma condição rara de excesso de gordura no sangue, que afeta tanto o colesterol quanto os triglicerídeos em níveis elevados. Essas gorduras são transportadas no sangue por partículas específicas chamadas lipoproteínas de densidade intermediária (IDLs). Ela está associada a um alto risco de entupimento precoce das artérias (aterosclerose) e de doenças do coração e dos vasos sanguíneos (doenças cardiovasculares).
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
+ 15 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 26 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
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant, Multigenic/multifactorial.
APOE is an apolipoprotein, a protein associating with lipid particles, that mainly functions in lipoprotein-mediated lipid transport between organs via the plasma and interstitial fluids (PubMed:14754908, PubMed:1911868, PubMed:6860692). APOE is a core component of plasma lipoproteins and is involved in their production, conversion and clearance (PubMed:14754908, PubMed:1911868, PubMed:1917954, PubMed:23620513, PubMed:2762297, PubMed:6860692, PubMed:9395455). Apolipoproteins are amphipathic mole
SecretedSecreted, extracellular spaceSecreted, extracellular space, extracellular matrixExtracellular vesicleEndosome, multivesicular body
Hyperlipoproteinemia 3
A disorder characterized by the accumulation of intermediate-density lipoprotein particles (IDL or broad-beta-lipoprotein) rich in cholesterol. Clinical features include xanthomas, yellowish lipid deposits in the palmar crease, or less specific on tendons and on elbows. The disorder rarely manifests before the third decade in men. In women, it is usually expressed only after the menopause.
Medicamentos aprovados (FDA)
2 medicamentos encontrados nos registros da FDA americana.
Variantes genéticas (ClinVar)
67 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
12 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 — Disbetalipoproteinemia
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
12 ensaios clínicos encontrados.
Publicações mais relevantes
APOB to estimated APOB ratio for screening for the APOE2 genotype.
Familial dysbetalipoproteinemia (FDB) is a genetic lipoprotein disorder that can develop in patients homozygous for the APOE2 genotype (ε2/ε2). It is associated with decreased clearance of remnant lipoproteins and increased atherosclerotic cardiovascular disease (ASCVD) risk disproportionate to their level of LDL-C. A goal of this study was to develop a screening test for the ε2/ε2 genotype based on routinely available lipid tests and to determine those at most risk for ASCVD. After assembly of a primary prevention cohort from the UK Biobank (n= 269,895), gene array and exome data was utilized to classify patients as being ε2/ε2 genotype positive or negative. Lipid profiles and APOB levels were extracted and the number of ASCVD events was tabulated during a 15-year follow-up period. Using a newly developed equation for estimating APOB (eAPOB) with lipid panel test results, the ratio of measured APOB to eAPOB was better than any other individual lipid test or ratio for identifying patients with the ε2/ε2 genotype (AUC: APOB/eAPOB: 0.990 (0.986-0.994), nonHDL-C/APOB: 0.961 (0.952-0.970), APOB: 0.955 (0.949-0.961), VLDL/TG: 0.788 (0.771-0.804)). The majority of ε2/ε2 patients could be identified with the APOB/eAPOB ratio even before they expressed the FDB phenotype with elevated TG and nonHDL-C. The PCE or PREVENT risk equations were the most accurate method for identifying higher risk patients (AUC: PREVENT: 0.690 (0.637-0.742), PCE: 0.697 (0.645-0.749)). The APOB/eAPOB ratio can be used to accurately identify the ε2/ε2 genotype and conventional risk equations are the best method for determining those at risk for ASCVD.
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 Challenges of Diagnosing Familial Dysbetalipoproteinemia: A Case Associated With a Rare ApoE Variant.
Familial dysbetalipoproteinemia (FDB) is a lipid disorder characterized by defective clearance of triglyceride-rich lipoprotein remnants. Definitive diagnosis has relied on genetic markers, lipid profiles, and specialized lipid assays including gel electrophoresis that demonstrates the characteristic beta-band consistent with enriched small VLDL and IDL. We present a case of a 51-year-old female with progressive hyperlipidemia despite a stable plant-based diet and regular exercise. Her lipid profile met many of the diagnostic criteria for FDB (ApoB < 120 mgd/L, TG > 133 mg/dL [1.5 mmol/L], and TG/ApoB ratio < 8.8). However, advanced lipid testing failed to demonstrate hallmark lipid remnant accumulation, likely due to statin therapy initiation prior to the time of testing. Genetic testing revealed heterozygosity for the ApoE2 variant (Arg176Cys) and another novel variant of unknown significance (VUS), 593 G > A (Arg198His), on the same allele (herein termed ApoE2-Wolverine). The ApoE2-Wolverine variant may be contributing to the patient's dyslipidemia; however, further investigation into its functional significance and cardiovascular implications is needed. Her treatment with rosuvastatin 10 mg, 2 g of daily eicosapentaenoic acid (EPA), and lifestyle modifications contributed to improvements in her lipid levels. This case highlights the diagnostic challenges in FDB, especially when novel genetic variants are involved. While many criteria for FDB were met, confirmatory gel electrophoresis and genetic testing were inconclusive. This case underscores the need for multimodal assessment in FDB diagnosis, incorporating genetic analysis, lipid profiles, and therapeutic response.
Prevalence of familial dyslipidemias, degree of lipid control and relationship with atherosclerotic cardiovascular disease in the general population of Galicia. GALIPEMIAS Study.
GALIPEMIAS is a study designed to determine the prevalence of familial dyslipidemias in the adult population of Galicia, evaluate the degree of lipid control according to the criteria of current clinical guidelines and analyze its association with atherosclerotic cardiovascular disease (ASCVD). Cross-sectional study carried out in the general population over 18years of age residing in Galicia and with a health card from the Galician Health Service (n=1,000). The sample was selected by random cluster sampling. The prevalence of familial combined hyperlipidemia (FCH), hypercholesterolemia with dominant inheritance pattern (HC-DI) and familial hypertriglyceridemia (FHTG), as well as suspected familial dysbetalipoproteinemia (FDB) and the joint prevalence of familial dyslipidemias with dominant inheritance (FDL-DI) were analyzed. For the assessment of cardiovascular risk (CVR), the criteria of the 2021 European guidelines for cardiovascular prevention were followed. The LDL-C control target required according to the CVR level was defined according to the 2019 European ESC/EAS guidelines. The prevalence of FCH was 15.9% (95%CI: 13.6-18.4%), that of HC-DI 5.9% (95%CI: 4.5-7.6%), that of FHTG 1.7% (95%CI: 1.0-2.8%) and that of subjects with suspected FDB 0.9% (95%CI 0.4-1.6%). The joint prevalence of FDL-DI was 23.5% (95%CI: 20.8-26.3%), also present in 1 in 3 subjects with ASCVD. Overall, 60.5% of participants with FDL-DI had high or very high CV risk and 4.6% of them were on target for LDL-C control. The presence of familial dyslipidemia with dominant inheritance is the majority among the adult population living in Galicia with dyslipidemia, with FCH being the most prevalent of them. These subjects are underdiagnosed, are generally at high or very high cardiovascular risk, hardly receive lipid-lowering treatment (1 in 3) and the degree of LDL-C control according to guidelines is very poor. .
Risk of Atherosclerotic Cardiovascular Disease in Familial Remnant Hyperlipidemia (Dysbetalipoproteinemia) and Familial Hypercholesterolemia.
Publicações recentes
The Challenges of Diagnosing Familial Dysbetalipoproteinemia: A Case Associated With a Rare ApoE Variant.
🥉 Relato de casoAPOB to estimated APOB ratio for screening for the APOE2 genotype.
🥈 Ensaio clínicoRisk of Atherosclerotic Cardiovascular Disease in Familial Remnant Hyperlipidemia (Dysbetalipoproteinemia) and Familial Hypercholesterolemia.
Genetic and Metabolic Factors of Familial Dysbetalipoproteinemia Phenotype: Insights from a Cross-Sectional Study.
📚 EuropePMC101 artigos no totalmostrando 78
The Challenges of Diagnosing Familial Dysbetalipoproteinemia: A Case Associated With a Rare ApoE Variant.
Case reports in medicineAPOB to estimated APOB ratio for screening for the APOE2 genotype.
medRxiv : the preprint server for health sciencesRisk of Atherosclerotic Cardiovascular Disease in Familial Remnant Hyperlipidemia (Dysbetalipoproteinemia) and Familial Hypercholesterolemia.
Journal of the American College of CardiologyGenetic and Metabolic Factors of Familial Dysbetalipoproteinemia Phenotype: Insights from a Cross-Sectional Study.
International journal of molecular sciencesPrevalence of familial dyslipidemias, degree of lipid control and relationship with atherosclerotic cardiovascular disease in the general population of Galicia. GALIPEMIAS Study.
Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de ArteriosclerosisInherited Dyslipidemic Splenomegaly: A Genetic Macrophage Storage Disorder Caused by Disruptive Apolipoprotein E (APOE) Variants.
GenesA case of lipoprotein glomerulopathy due to the pathogenic APOE Las Vegas variant c.509C > A: p. (Ala170Asp).
Journal of clinical lipidologyImpact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features.
Journal of atherosclerosis and thrombosisClinical and biochemical features of atherogenic hyperlipidemias with different genetic basis: A comprehensive comparative study.
PloS oneSpectrum and Prevalence of Rare APOE Variants and Their Association with Familial Dysbetalipoproteinemia.
International journal of molecular sciencesDysbetalipoproteinemia: Focus on a Neglected Lipid Disorder.
The Journal of clinical endocrinology and metabolismEvaluating Dyslipidemia and Atherogenic Indices as Predictors of Coronary Artery Disease Risk: A Retrospective Cross-Sectional Study.
CureusPredictors of Cardiovascular Disease in Individuals With Dysbetalipoproteinemia: A Prospective Study in the UK Biobank.
The Journal of clinical endocrinology and metabolismInteraction Between Primary Hyperlipidemias and Type 2 Diabetes: Therapeutic Implications.
Diabetes therapy : research, treatment and education of diabetes and related disordersEvaluation of biochemical algorithms to screen dysbetalipoproteinemia in ε2ε2 and rare APOE variants carriers.
Clinical chemistry and laboratory medicinePrevalence of Dysbetalipoproteinemia in the UK Biobank According to Different Diagnostic Criteria.
The Journal of clinical endocrinology and metabolismGenetic risk score in patients with the APOE2/E2 genotype as a predictor of familial dysbetalipoproteinemia.
Journal of clinical lipidologyIlluminating the full spectrum of APOE variation.
AtherosclerosisApplicability of Diagnostic Criteria and High Prevalence of Familial Dysbetalipoproteinemia in Russia: A Pilot Study.
International journal of molecular sciencesComposition and distribution of lipoproteins after evolocumab in familial dysbetalipoproteinemia: A randomized controlled trial.
Journal of clinical lipidologyDietary recommendations for dysbetalipoproteinemia: A need for better evidence.
Journal of clinical lipidologyContribution of APOE Genetic Variants to Dyslipidemia.
Arteriosclerosis, thrombosis, and vascular biologyGenetic testing in dyslipidaemia: An approach based on clinical experience.
Best practice & research. Clinical endocrinology & metabolismDiagnosis of Familial Dysbetalipoproteinemia Based on the Lipid Abnormalities Driven by APOE2/E2 Genotype.
Clinical chemistryLow-density lipoprotein cholesterol and non-high-density lipoprotein cholesterol measurement in Familial Dysbetalipoproteinemia.
Clinica chimica acta; international journal of clinical chemistryEffect of evolocumab on fasting and post fat load lipids and lipoproteins in familial dysbetalipoproteinemia.
Journal of clinical lipidologyPhysiological Bases for the Superiority of Apolipoprotein B Over Low-Density Lipoprotein Cholesterol and Non-High-Density Lipoprotein Cholesterol as a Marker of Cardiovascular Risk.
Journal of the American Heart AssociationDysbetalipoproteinemia Is Associated With Increased Risk of Coronary and Peripheral Vascular Disease.
The Journal of clinical endocrinology and metabolismHypertriglyceridaemia in pregnancy: an unexpected diagnosis and its management.
BMJ case reportsDiagnosis of remnant hyperlipidaemia.
Current opinion in lipidologyIdentification of Dysbetalipoproteinemia by an Enhanced Sampson-NIH Equation for Very Low-Density Lipoprotein-Cholesterol.
Frontiers in geneticsPalmar Striated Xanthomas in Clinical Practice.
Journal of the Endocrine SocietyEstablishing the relationship between familial dysbetalipoproteinemia and genetic variants in the APOE gene.
Clinical geneticsAn Updated Review and Meta Analysis of Lipoprotein Glomerulopathy.
Frontiers in medicineGenetic and Mechanistic Insights into the Modulation of Circulating Lipoprotein (a) Concentration by Apolipoprotein E Isoforms.
Current atherosclerosis reportsEffect of PCSK9 inhibition with evolocumab on lipoprotein subfractions in familial dysbetalipoproteinemia (type III hyperlipidemia).
PloS oneApproach to the Patient With Moderate Hypertriglyceridemia.
The Journal of clinical endocrinology and metabolismChylomicronemia Due to the Rare Hyperlipoproteinemia Type 3 Complicated by a Circulating Monoclonal Protein.
Laboratory medicineA new phenotypic classification system for dyslipidemias based on the standard lipid panel.
Lipids in health and diseaseA Friend and a Foe: 50 Years of the Apolipoprotein E Research Trail.
The Israel Medical Association journal : IMAJDysbetalipoproteinemia: Differentiating Multifactorial Remnant Cholesterol Disease From Genetic ApoE Deficiency.
The Journal of clinical endocrinology and metabolismAPOE gene variants in primary dyslipidemia.
AtherosclerosisHyperlipidemic myeloma, a rare form of acquired dysbetalipoproteinemia, in an HIV seropositive African female.
Clinica chimica acta; international journal of clinical chemistryDysbetalipoproteinemia and other lipid abnormalities related to apo E.
Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de ArteriosclerosisApolipoprotein E and Atherosclerosis.
Current atherosclerosis reportsAdiposity and the development of dyslipidemia in APOE ε2 homozygous subjects: A longitudinal analysis in two population-based cohorts.
AtherosclerosisCase Report: Hypertriglyceridemia and Premature Atherosclerosis in a Patient With Apolipoprotein E Gene ε2ε1 Genotype.
Frontiers in cardiovascular medicineKetogenic diets, not for everyone.
Journal of clinical lipidologyImportance of the triglyceride level in identifying patients with a Type III Hyperlipoproteinemia phenotype using the ApoB algorithm.
Journal of clinical lipidologyModern prevalence of dysbetalipoproteinemia (Fredrickson-Levy-Lees type III hyperlipoproteinemia).
Archives of medical science : AMSGenetics of Hypertriglyceridemia.
Frontiers in endocrinologyA simplified diagnosis algorithm for dysbetalipoproteinemia.
Journal of clinical lipidologyXanthoma striatum palmare and biliary tract atresia: An unusual association.
Pediatric dermatologyThe clinical and laboratory investigation of dysbetalipoproteinemia.
Critical reviews in clinical laboratory sciences[Dysbetalipoproteinemia is overlooked and dangerous].
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekkeTriglycerides, hypertension, and smoking predict cardiovascular disease in dysbetalipoproteinemia.
Journal of clinical lipidologySevere Combined Dyslipidemia With a Complex Genetic Basis.
Journal of investigative medicine high impact case reportsAtypical familial dysbetalipoproteinemia associated with high polygenic cholesterol and triglyceride scores treated with ezetimibe and evolocumab.
Journal of clinical lipidologyEvaluation of the Non-HDL Cholesterol to Apolipoprotein B Ratio as a Screening Test for Dysbetalipoproteinemia.
Clinical chemistryApolipoprotein E Deficiency Increases Remnant Lipoproteins and Accelerates Progressive Atherosclerosis, But Not Xanthoma Formation, in Gene-Modified Minipigs.
JACC. Basic to translational scienceInsulin resistance involvement in prevalence of familial dysbetalipoproteinemia in ε2ε2 subjects by Bayesian network modeling.
Clinical biochemistryRoles of high apolipoprotein E blood levels and HDL in development of familial dysbetalipoproteinemia in ε2ε2 subjects.
Clinical biochemistryEffect of adding bezafibrate to standard lipid-lowering therapy on post-fat load lipid levels in patients with familial dysbetalipoproteinemia. A randomized placebo-controlled crossover trial.
Journal of lipid researchComparison of Lipoprotein Electrophoresis and Apolipoprotein E Genotyping in Investigating Dysbetalipoproteinemia.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSPApolipoprotein E - A Multifunctional Protein with Implications in Various Pathologies as a Result of Its Structural Features.
Computational and structural biotechnology journalAutosomal dominant familial dysbetalipoproteinemia: A pathophysiological framework and practical approach to diagnosis and therapy.
Journal of clinical lipidologyRemnant Cholesterol Elicits Arterial Wall Inflammation and a Multilevel Cellular Immune Response in Humans.
Arteriosclerosis, thrombosis, and vascular biologyAssociation Between the Presence of Carotid Artery Plaque and Cardiovascular Events in Patients With Genetic Hypercholesterolemia.
Revista espanola de cardiologia (English ed.)[Hyperlipoproteinemia and dyslipidemia as rare diseases. Diagnostics and treatment].
Vnitrni lekarstviFamilial dysbetalipoproteinemia: an underdiagnosed lipid disorder.
Current opinion in endocrinology, diabetes, and obesityPathognomonic Palmar Crease Xanthomas of Apolipoprotein E2 Homozygosity-Familial Dysbetalipoproteinemia.
JAMA dermatologyType III Hyperlipoproteinemia: Still Worth Considering?
Progress in cardiovascular diseasesInfluence of Abdominal Obesity on the Lipid-Lipoprotein Profile in Apoprotein E2/4 Carriers: The Effect of an Apparent Duality.
Journal of lipidsUpdate on the molecular biology of dyslipidemias.
Clinica chimica acta; international journal of clinical chemistryDysbetalipoproteinemia: an extreme disorder of remnant metabolism.
Current opinion in lipidologyTreatment of primary hypertriglyceridemia states--General approach and the role of extracorporeal methods.
Atherosclerosis. SupplementsDysbetalipoproteinemia: Two cases report and a diagnostic algorithm.
World journal of clinical casesVascular risk factors, vascular disease, lipids and lipid targets in patients with familial dysbetalipoproteinemia: a European cross-sectional study.
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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.
- APOB to estimated APOB ratio for screening for the APOE2 genotype.
- Genetic dyslipidemias.
- The Challenges of Diagnosing Familial Dysbetalipoproteinemia: A Case Associated With a Rare ApoE Variant.
- Prevalence of familial dyslipidemias, degree of lipid control and relationship with atherosclerotic cardiovascular disease in the general population of Galicia. GALIPEMIAS Study.Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de Arteriosclerosis· 2026· PMID 40441927mais citado
- Risk of Atherosclerotic Cardiovascular Disease in Familial Remnant Hyperlipidemia (Dysbetalipoproteinemia) and Familial Hypercholesterolemia.
- Genetic and Metabolic Factors of Familial Dysbetalipoproteinemia Phenotype: Insights from a Cross-Sectional Study.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:412(Orphanet)
- OMIM OMIM:617347(OMIM)
- MONDO:0018473(MONDO)
- GARD:6703(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q2069207(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.
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