São um grupo de doenças que afetam a forma como o corpo lida com as lipoproteínas (partículas que transportam gordura no sangue), caracterizadas por níveis permanentemente muito baixos (abaixo do que é esperado para a maioria das pessoas) de apolipoproteína B e do colesterol LDL, também conhecido como "colesterol ruim".
Introdução
O que você precisa saber de cara
São um grupo de doenças que afetam a forma como o corpo lida com as lipoproteínas (partículas que transportam gordura no sangue), caracterizadas por níveis permanentemente muito baixos (abaixo do que é esperado para a maioria das pessoas) de apolipoproteína B e do colesterol LDL, também conhecido como "colesterol ruim".
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 37 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 82 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.
Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). Apo B-100 functions as a recognition signal for the cellular binding and internalization of LDL particles by the apoB/E receptor
CytoplasmSecretedLipid droplet
Hypobetalipoproteinemia, familial, 1
A disorder of lipid metabolism characterized by less than 5th percentile age- and sex-specific levels of low density lipoproteins, and dietary fat malabsorption. Clinical presentation may vary from no symptoms to severe gastrointestinal and neurological dysfunction similar to abetalipoproteinemia.
Acts in part as a hepatokine that is involved in regulation of lipid and glucose metabolism (PubMed:11788823, PubMed:12909640, PubMed:23661675, PubMed:25495645). Proposed to play a role in the trafficking of energy substrates to either storage or oxidative tissues in response to food intake (By similarity). Has a stimulatory effect on plasma triglycerides (TG), which is achieved by suppressing plasma TG clearance via inhibition of LPL activity. The inhibition of LPL activity appears to be an ind
SecretedCell projection, lamellipodium
Hypobetalipoproteinemia, familial, 2
A disorder of lipid metabolism characterized by less than 5th percentile age- and sex-specific levels of low density lipoproteins, and dietary fat malabsorption. Affected individuals present with combined hypolipidemia, consisting of extremely low plasma levels of LDL cholesterol, HDL cholesterol, and triglycerides.
Catalyzes the transport of triglyceride, cholesteryl ester, and phospholipid between phospholipid surfaces (PubMed:15897609, PubMed:16478722, PubMed:22236406, PubMed:23475612, PubMed:25108285, PubMed:26224785, PubMed:8876250, PubMed:8939939). Required for the assembly and secretion of plasma lipoproteins that contain apolipoprotein B (PubMed:16478722, PubMed:23475612, PubMed:26224785, PubMed:8876250, PubMed:8939939). May be involved in regulating cholesteryl ester biosynthesis in cells that prod
Endoplasmic reticulumGolgi apparatus
Abetalipoproteinemia
An autosomal recessive disorder of lipoprotein metabolism. Affected individuals produce virtually no circulating apolipoprotein B-containing lipoproteins (chylomicrons, VLDL, LDL, lipoprotein(A)). Malabsorption of the antioxidant vitamin E occurs, leading to spinocerebellar and retinal degeneration.
Small GTPase that cycles between an active GTP-bound and an inactive GDP-bound state and mainly functions in vesicle-mediated endoplasmic reticulum (ER) to Golgi transport. The active GTP-bound form inserts into the endoplasmic reticulum membrane where it recruits the remainder of the coat protein complex II/COPII (PubMed:23433038, PubMed:32358066, PubMed:33186557, PubMed:36369712). The coat protein complex II assembling and polymerizing on endoplasmic reticulum membrane is responsible for both
Endoplasmic reticulum membraneGolgi apparatus, Golgi stack membraneCytoplasm, cytosolLysosome membrane
Chylomicron retention disease
An autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy. The condition is characterized by deficiency of fat-soluble vitamins, low blood cholesterol levels, and a selective absence of chylomicrons from blood. Affected individuals accumulate chylomicron-like particles in membrane-bound compartments of enterocytes, which contain large cytosolic lipid droplets.
Variantes genéticas (ClinVar)
3,948 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 3,353 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
28 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 — Hipobetalipoproteinemia
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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
Pesquisa e ensaios clínicos
24 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
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.
Identification of a novel apoB variant in a family exhibiting hypocholesterolemia: Mechanistic insights.
Familial hypobetalipoproteinemia is a rare autosomal codominant disorder, often caused by a defect in apolipoprotein B (apoB) production required for lipoprotein formation and secretion. Characterization of the lipid profiles of 3 family members exhibiting very low circulating cholesterol levels. Plasma samples from the control sibling and the affected patients were analyzed. Fast protein liquid chromatography and high-performance liquid chromatography were used to characterize the lipid profiles, size, and distribution of lipoprotein particles. Exome sequencing of family members revealed a single-nucleotide deletion in APOB in the 3 affected individuals. The effect of the single-nucleotide deletion on the secretion of apoB was analyzed in Immortalized Human Hepatocyte (IHH) cells. Plasma lipid profiles revealed that the affected individuals have low levels of total cholesterol and low-density lipoprotein cholesterol, with no difference in lipoprotein particle size. DNA sequencing of APOB revealed a single heterozygote deletion of an adenosine in exon 3 at the nucleotide position 1268 in all affected members. This deletion introduces a reading frame shift at glutamine 380, resulting in a stop codon at position 397. The C-terminally truncated apoB, called apoB9, is a variant spanning ∼9% of the full-length protein. Upon expression of apoB9 in IHH cells, the protein did not exit the endoplasmic reticulum/cis-Golgi and, hence, was not secreted into the media. Molecular modeling revealed that apoB9 lacks the βA- and βB-sheets that are required for lipid particle formation, which can explain the absence of apoB9 secretion. Our data suggested that the affected family members have ∼50% to 60% lower apoB levels and are likely protected against the development of atherosclerosis and cardiovascular diseases.
Familial hypercholesterolemia concealed by a protein-truncating variant of PCSK9.
Familial hypercholesterolemia (FH) is one of the most common inherited dyslipidemias and a major risk factor for premature coronary artery disease. Statins are the primary lipid-lowering therapy for FH but are usually insufficient for reducing low-density lipoprotein cholesterol to normal levels, necessitating additional medications such as proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors. However, the safety of long-term PCSK9 inhibition is unclear. Here, we report an extremely rare family where FH phenotypes are mitigated by co-existing familial hypobetalipoproteinemia caused by a protein-truncating variant of PCSK9. This case suggests that long-term PCSK9 inhibitor treatment may be safe and effective for patients with FH.
Evaluation of Pathogenic Variants Associated With Monogenic Disorders of Dyslipidemia in Patients With Well Characterised MASLD.
Dyslipidemia is common in patients with MASLD, but the frequency and significance of inherited disorders of dyslipidemia are unclear. We investigated the prevalence and significance of pathogenic variants associated with selected monogenic disorders of dyslipidemia in 3358 patients with well-characterised MASLD. We identified clinically relevant variants in APOB, MTTP, PCSK9, ANGPTL3, LDLR and LDLRAP1 genes which can cause hypobetalipoproteinemia (HBL) and familial hypercholesterolemia (FH). Using ClinVar annotations as initial variant selection, we identified 2027 variants in those 6 genes which are reported as 'pathogenic' or 'likely pathogenic' (P/LP). We first assessed for the presence of P/LP variants in the study cohort and then investigated the effect of carrying P/LP variants on liver histology, by comparing ~4 matched controls for each APOB and LDLR carrier. As interpretative analyses, we also looked at the difference between liver enzymes, lipid measures and outcomes between the carriers and matched controls. Twenty-two variants among these 2027 P/LP variants were present in 24 out of 3358 patients (12 ApoB, 10 LDLR, 1 ANGPTL3 and 1 MTTP variant carriers). Compared to controls, APOB carriers had higher steatosis grade (2.4 vs. 1.7, p-value 0.0028), higher NAFLD activity score (NAS) (4.9 vs. 3.8, p-value 0.04), and numerically higher but statistically not significant fibrosis stage (1.2 vs. 1.1, p-value 0.75) and ALT (87.4 vs. 58.1 U/L, p-value 0.06). Their LDL-c (51 vs. 147.8 mg/dL, p-value 6.1E-09) and triglycerides (91.5 vs. 160.6 mg/dL, p-value 2.8E-03) were significantly lower. Compared to controls, LDLR carriers had numerically higher steatosis grade, NAS, fibrosis stage and LDL-c levels, but these were not statistically different. Monogenic disorders of dyslipidemia are rarely present in patients with MASLD and are sometimes associated with worse liver histology. Testing for these conditions may be considered on a case-by-case basis.
Current and Emerging Issues in Familial Hypobetalipoproteinemia-related Steatotic Liver Diseases.
Familial hypobetalipoproteinemia (FHBL), caused by apolipoprotein B (APOB) variants, disrupts APOB-containing lipoprotein synthesis, leading to reduced serum total cholesterol, low-density lipoprotein cholesterol, and APOB. Heterozygous carriers are often asymptomatic, while homozygotes exhibit severe manifestations like malabsorption, vitamin deficiencies, and hepatic steatosis. In recent years, FHBL has attracted increasing attention due to its association with liver disease and its role as a unique monogenic model of steatotic liver disease independent of cardiometabolic risk factors. Mechanistically, lipid overload, endoplasmic reticulum stress, oxidative damage, and impaired autophagy may drive hepatocellular injury and fibrosis. Challenges include insufficient diagnosis, sparse epidemiological data, and unclear disease progression. Enhanced genetic testing, mechanistic research, and longitudinal studies are critical to improving diagnosis, risk assessment, and therapies for FHBL-associated liver disease.
Publicações recentes
Identification of a novel apoB variant in a family exhibiting hypocholesterolemia: Mechanistic insights.
🥉 Relato de casoFamilial hypercholesterolemia concealed by a protein-truncating variant of PCSK9.
📖 RevisãoEvaluation of Patients Diagnosed with Inherited Metabolic Diseases in Adulthood.
Evaluation of Pathogenic Variants Associated With Monogenic Disorders of Dyslipidemia in Patients With Well Characterised MASLD.
📚 EuropePMC243 artigos no totalmostrando 118
Identification of a novel apoB variant in a family exhibiting hypocholesterolemia: Mechanistic insights.
Journal of clinical lipidologyFamilial hypercholesterolemia concealed by a protein-truncating variant of PCSK9.
Journal of clinical lipidologyEvaluation of Patients Diagnosed with Inherited Metabolic Diseases in Adulthood.
Sisli Etfal Hastanesi tip bulteniEvaluation of Pathogenic Variants Associated With Monogenic Disorders of Dyslipidemia in Patients With Well Characterised MASLD.
Liver international : official journal of the International Association for the Study of the LiverCurrent and Emerging Issues in Familial Hypobetalipoproteinemia-related Steatotic Liver Diseases.
Journal of clinical and translational hepatologySynergic combination of the monogenic ANGPTL3 p.H343R variant and a polygenic predisposition in a family with hypobetalipoproteinemia.
AtherosclerosisMinigene splicing reporter assay: a high-stake tool for genetic diagnosis in familial hypobetalipoproteinemia.
AtherosclerosisClinical and biochemical spectrum of APOB-related hypobetalipoproteinemia: Insights from a retrospective cohort study.
Journal of clinical lipidologyPathological features of non-alcoholic steatohepatitis in a pediatric patient with heterozygous familial hypobetalipoproteinemia: A case report.
World journal of hepatologyA novel mutation, Ile344Asn, in microsomal triglyceride transfer protein abolishes binding to protein disulfide isomerase.
Journal of lipid researchMobile Element Insertion in the APOB Exon 3 Coding Sequence: A New Challenge in Hypobetalipoproteinemia Diagnosis.
Clinical geneticsDo genetically determined very high and very low LDL levels contribute to Lp(a) plasma concentration?
Nutrition, metabolism, and cardiovascular diseases : NMCDLow LDL-C: Is It all Good News?
Current atherosclerosis reportsExploring Plasma Coenzyme Q10 Status in Paediatric Dyslipidaemia.
Antioxidants (Basel, Switzerland)Hypolipidemia due to Familial Hypobetalipoproteinemia in Adolescents.
AACE clinical case reportsThe association between primary hypobetalipoproteinemia and hepatic diseases: Evidence from genetic studies.
Journal of hepatologyCurrent Diagnosis and Management of Familial Hypobetalipoproteinemia 1.
Journal of atherosclerosis and thrombosisThe first Japanese case with familial combined hypolipidemia without any complications caused by loss-of function variants in ANGPTL3: Case report.
HeliyonDiagnostic challenge between a frequent polygenic hypocholesterolemia and an unusual Smith Lemli Opitz syndrome related to bi-allelic DHCR7 mutations.
Clinical chemistry and laboratory medicinePrimary hypobetalipoproteinemia as a risk factor for liver complications.
Journal of hepatologyCombination of heterozygous APOB gene mutation with PNPLA3 and TM6SF2 variants promotes steatotic liver disease, cirrhosis and HCC development.
Liver international : official journal of the International Association for the Study of the LiverA Family with Familial Hypobetalipoproteinemia Caused by a c.1468C>T in APOB.
Internal medicine (Tokyo, Japan)Primary hypocholesterolemia is associated with an increased risk of hepatic complications in the general population.
Journal of hepatologyUnique Genetic Features of Lean NAFLD: A Review of Mechanisms and Clinical Implications.
Journal of clinical and translational hepatologyFamilial ApoB-specific familial hypobetalipoproteinemia in a patient with non-classical congenital adrenal hyperplasia.
Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de ArteriosclerosisCarotenoids in familial hypobetalipoproteinemia disorders: Malabsorption in Caco2 cell models and severe deficiency in patients.
Journal of clinical lipidologyCase report: Coronary atherosclerosis in a patient with long-standing very low LDL-C without lipid-lowering therapy.
Frontiers in cardiovascular medicineMissense mutation Q384K in the APOB gene affecting the large lipid transfer module of apoB reduces the secretion of apoB-100 in the liver without reducing the secretion of apoB-48 in the intestine.
Journal of clinical lipidologyNon-alcoholic fatty liver disease in a pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novel APOB variant: a case report and systematic literature review.
Frontiers in medicineInterest of minigene splicing reporter assay in familial hypobetalipoproteinemia genetic diagnosis: the example of the missense mutation APOB c.1468C>T.
Clinical chemistry and laboratory medicineA case of hypocholesterolemia under study.
Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de ArteriosclerosisRare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugal.
Frontiers in geneticsLow cholesterol states: clinical implications and management.
Expert review of endocrinology & metabolismValidation of Knock-Out Caco-2 TC7 Cells as Models of Enterocytes of Patients with Familial Genetic Hypobetalipoproteinemias.
NutrientsCase report of familial hypobetalipoproteinemia: a novel APOB mutation and literature review.
Annals of pediatric endocrinology & metabolismHow ANGPTL3 Inhibition Will Help Our Clinical Practice?
Current atherosclerosis reports[Homozygous familial hypobetalipoproteinemia caused by APOB gene variations: a case report and review of literature].
Zhonghua er ke za zhi = Chinese journal of pediatricsGenetically determined deficiency of ANGPTL3 does not alter HDL ability to preserve endothelial homeostasis.
Biochimica et biophysica acta. Molecular and cell biology of lipidsANGPTL3 deficiency associates with the expansion of regulatory T cells with reduced lipid content.
AtherosclerosisGuidance for the diagnosis and treatment of hypolipidemia disorders.
Journal of clinical lipidologyVariants in the GPR146 Gene Are Associated With a Favorable Cardiometabolic Risk Profile.
Arteriosclerosis, thrombosis, and vascular biologyCase report: Unusual coexistence between familial hypercholesterolemia and familial hypobetalipoproteinemia.
Frontiers in cardiovascular medicineFamilial hypobetalipoproteinemia caused by homozygous loss-of-function mutations in PCSK9: A case report.
Journal of clinical lipidologyNovel APOB nonsense variant related to familial hypobetalipoproteinemia and hepatic steatosis: A case report and review.
Journal of clinical lipidologyAGA Clinical Practice Update: Diagnosis and Management of Nonalcoholic Fatty Liver Disease in Lean Individuals: Expert Review.
GastroenterologyComparison of two polygenic risk scores to identify non-monogenic primary hypocholesterolemias in a large cohort of Italian hypocholesterolemic subjects.
Journal of clinical lipidologyAPOB CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A Promising Tool for Functional Studies of Novel Variants.
International journal of molecular sciencesForty year follow-up of three patients with complete absence of apolipoprotein B-containing lipoproteins.
Journal of clinical lipidologyNovel APOB mutation in familial hypobetalipoproteinemia.
Journal of clinical lipidologyTargeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.
Frontiers in geneticsPolygenic variants related to familial hypobetalipoproteinemia in a patient with Alzheimer's disease homozygotic for the APOE ε2 allele presenting multiple cortical superficial siderosis and recurrent lobar hemorrhages.
NeurogeneticsIdentification of a Variant in APOB Gene as a Major Cause of Hypobetalipoproteinemia in Lebanese Families.
MetabolitesMonogenic and polygenic causes of low and extremely low LDL-C levels in patients referred to specialty lipid clinics: Genetics of low LDL-C.
Journal of clinical lipidologyRecurrent Lobar Hemorrhages and Multiple Cortical Superficial Siderosis in a Patient of Alzheimer's Disease With Homozygous APOE ε2 Allele Presenting Hypobetalipoproteinemia and Pathological Findings of 18F-THK5351 Positron Emission Tomography: A Case Report.
Frontiers in neurologyZebrafish mutants provide insights into Apolipoprotein B functions during embryonic development and pathological conditions.
JCI insightFamilial Hypobetalipoproteinemia: An Underrecognized Cause of Lean NASH.
Hepatology (Baltimore, Md.)Normal plasma apoB48 despite the virtual absence of apoB100 in a compound heterozygote with novel mutations in the MTTP gene.
Journal of clinical lipidologyHypotriglyceridemias/hypolipidemias.
Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de ArteriosclerosisLipids Responsible for Intestinal or Hepatic Disorder: When to Suspect a Familial Intestinal Hypocholesterolemia?
Journal of pediatric gastroenterology and nutritionImpaired Cytoskeletal and Membrane Biophysical Properties of Acanthocytes in Hypobetalipoproteinemia - A Case Study.
Frontiers in physiologyAutism: Screening of inborn errors of metabolism and unexpected results.
Autism research : official journal of the International Society for Autism ResearchInterrogation of selected genes influencing serum LDL-Cholesterol levels in patients with well characterized NAFLD.
Journal of clinical lipidologyNew Classification and Management of Abetalipoproteinemia and Related Disorders.
GastroenterologyPhenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia.
Arteriosclerosis, thrombosis, and vascular biologyDevelopment of a new expanded next-generation sequencing panel for genetic diseases involved in dyslipidemia.
Clinical geneticsRare Diseases Related with Lipoprotein Metabolism.
Advances in experimental medicine and biologyA Novel Variant in APOB Gene Causes Extremely Low LDL-C Without Known Adverse Effects.
JACC. Case reportsA Healthy Family of Familial Hypobetalipoproteinemia Caused by a Protein-truncating Variant in the PCSK9 Gene.
Internal medicine (Tokyo, Japan)A Rare Mutation in The APOB Gene Associated with Neurological Manifestations in Familial Hypobetalipoproteinemia.
International journal of molecular sciencesHypobetalipoproteinemia and abetalipoproteinemia: liver disease and cardiovascular disease.
Current opinion in lipidologyQuantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.
Nature communicationsIn vitro functional characterization of splicing variants of the APOB gene found in familial hypobetalipoproteinemia.
Journal of clinical lipidologyApolipoprotein B and PNPLA3 Double Heterozygosity in a Father-Son Pair With Advanced Nonalcoholic Fatty Liver Disease.
Hepatology (Baltimore, Md.)Novel mutations of SAR1B gene in four children with chylomicron retention disease.
Journal of clinical lipidologyLow LDL cholesterol-Friend or foe?
Journal of clinical lipidologyN-Glycosylation Defects in Humans Lower Low-Density Lipoprotein Cholesterol Through Increased Low-Density Lipoprotein Receptor Expression.
CirculationFamilial heterozygous hypobetalipoproteinemia and breast cancer risk: A systematic review and suggestions for further research.
The breast journalRare Protein-Truncating Variants in APOB, Lower Low-Density Lipoprotein Cholesterol, and Protection Against Coronary Heart Disease.
Circulation. Genomic and precision medicineExtremely low levels of low-density lipoprotein potentially suggestive of familial hypobetalipoproteinemia: A separate phenotype of NAFLD?
Journal of clinical lipidologyMolecular analysis of APOB, SAR1B, ANGPTL3, and MTTP in patients with primary hypocholesterolemia in a clinical laboratory setting: Evidence supporting polygenicity in mutation-negative patients.
AtherosclerosisThe biochemical and genetic diagnosis of lipid disorders.
Current opinion in lipidologyPrevalence of hypobetalipoproteinemia and related psychiatric characteristics in a psychiatric population: results from the retrospective HYPOPSY Study.
Lipids in health and diseaseEfficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease.
Journal of lipid researchComplex genetic architecture in severe hypobetalipoproteinemia.
Lipids in health and diseaseCurrent state of knowledge in Chorea-Acanthocytosis as core Neuroacanthocytosis syndrome.
European journal of medical geneticsClinical and biochemical characteristics of individuals with low cholesterol syndromes: A comparison between familial hypobetalipoproteinemia and familial combined hypolipidemia.
Journal of clinical lipidologyA case of hypocholesterolemia and steatosis in a carrier of a PCSK9 loss-of-function mutation and polymorphisms predisposing to nonalcoholic fatty liver disease.
Journal of clinical lipidologyMetabolic Manifestations of Hepatitis C Virus: Diabetes Mellitus, Dyslipidemia.
Clinics in liver diseaseThreshold Effects of Circulating Angiopoietin-Like 3 Levels on Plasma Lipoproteins.
The Journal of clinical endocrinology and metabolismLow-Density Lipoprotein Cholesterol (LDL-C): How Low?
Current vascular pharmacologyAssociation between familial hypobetalipoproteinemia and the risk of diabetes. Is this the other side of the cholesterol-diabetes connection? A systematic review of literature.
Acta diabetologicaIdentification of a haplotype associated with cholesterol deficiency and increased juvenile mortality in Holstein cattle.
Journal of dairy scienceStructure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects.
Biochimica et biophysica actaNovel APOB missense variants, A224T and V925L, in a black South African woman with marked hypocholesterolemia.
Journal of clinical lipidologyCorrigendum to "Molecular diagnosis of hypobetalipoproteinemia: An ENID review" [Atherosclerosis 195 (2) (2007) 19-27].
AtherosclerosisIdentification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia.
AtherosclerosisEffects of angiopoietin-like protein 3 deficiency on postprandial lipid and lipoprotein metabolism.
Journal of lipid researchLipoprotein metabolism in an apoB-80 familial hypobetalipoproteinemia heterozygote.
Clinical biochemistryChylomicrons: Advances in biology, pathology, laboratory testing, and therapeutics.
Clinica chimica acta; international journal of clinical chemistryCharacterization of a mutant form of human apolipoprotein B (Thr26_Tyr27del) associated with familial hypobetalipoproteinemia.
Biochimica et biophysica actaAn Infant with Chronic Diarrhoea and Failure to Thrive: Familial Hypobetalipoproteinemia.
Journal of clinical and diagnostic research : JCDRA transposable element insertion in APOB causes cholesterol deficiency in Holstein cattle.
Animal geneticsThe role of ANGPTL3 in controlling lipoprotein metabolism.
EndocrineHypolipidemia in a Special Operations Candidate: Case Report and Review of the Literature.
Journal of special operations medicine : a peer reviewed journal for SOF medical professionalsHomozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B.
Clinica chimica acta; international journal of clinical chemistryUrine-sample-derived human induced pluripotent stem cells as a model to study PCSK9-mediated autosomal dominant hypercholesterolemia.
Disease models & mechanismsUpdate on the molecular biology of dyslipidemias.
Clinica chimica acta; international journal of clinical chemistryCurrent Concepts in Diabetes Mellitus and Chronic Liver Disease: Clinical Outcomes, Hepatitis C Virus Association, and Therapy.
Digestive diseases and sciencesLipoprotein Metabolism in APOB L343V Familial Hypobetalipoproteinemia.
The Journal of clinical endocrinology and metabolismFibrinogen storage disease and cirrhosis associated with hypobetalipoproteinemia owing to fibrinogen Aguadilla in a Turkish child.
Liver international : official journal of the International Association for the Study of the LiverVitamin E and oxidative stress in abetalipoproteinemia and familial hypobetalipoproteinemia.
Free radical biology & medicineThe Janus-faced manifestations of homozygous familial hypobetalipoproteinemia due to apolipoprotein B truncations.
Journal of clinical lipidologyIdentification of Novel Mutations in Spatacsin and Apolipoprotein B Genes in a Patient with Spastic Paraplegia and Hypobetalipoproteinemia.
Case reports in geneticsFat accumulation in enterocytes: a key to the diagnosis of abetalipoproteinemia or homozygous hypobetalipoproteinemia.
EndoscopySPG11 mutation in a Turkish familial hypobetalipoproteinemia family with hereditary spastic paraplegia.
Clinica chimica acta; international journal of clinical chemistryExtreme Contrast of Postprandial Remnant-Like Particles Formed in Abetalipoproteinemia and Homozygous Familial Hypobetalipoproteinemia.
JIMD reportsClinical and genetic analysis of a family diagnosed with familial hypobetalipoproteinemia in which the proband was diagnosed with diabetes mellitus.
AtherosclerosisHomozygous familial hypobetalipoproteinemia: two novel mutations in the splicing sites of apolipoprotein B gene and review of the literature.
AtherosclerosisAssociações
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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.
- Genetic dyslipidemias.
- Identification of a novel apoB variant in a family exhibiting hypocholesterolemia: Mechanistic insights.
- Familial hypercholesterolemia concealed by a protein-truncating variant of PCSK9.
- Evaluation of Pathogenic Variants Associated With Monogenic Disorders of Dyslipidemia in Patients With Well Characterised MASLD.Liver international : official journal of the International Association for the Study of the Liver· 2026· PMID 41514510mais citado
- Current and Emerging Issues in Familial Hypobetalipoproteinemia-related Steatotic Liver Diseases.
- Evaluation of Patients Diagnosed with Inherited Metabolic Diseases in Adulthood.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:31154(Orphanet)
- MONDO:0017774(MONDO)
- GARD:18802(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q3444851(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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