A proteína microssomal de transferência de triglicéridos, frequentemente abreviada como MTTP, funciona como uma espécie de «carregadora» ou «montadora» essencial dentro das células humanas, especificamente no fígado e no intestino delgado. Para o corpo transportar gorduras (lípidos) através do sangue, como a gordura e a água não se misturam, as gorduras precisam de ser embaladas em «veículos» especiais chamados lipoproteínas. A MTTP é a operária responsável por inserir componentes como triglicéridos e fosfolípidos numa proteína estrutural chamada apolipoproteína B. Sem a intervenção direta da MTTP, estas partículas de transporte simplesmente não poderiam ser formadas corretamente, e a gordura ficaria «presa» dentro das células em vez de circular para fornecer energia ao resto do organismo.
Introdução
O que você precisa saber de cara
Doença rara do metabolismo lipídico caracterizada por níveis plasmáticos de colesterol total e de colesterol de lipoproteína de baixa densidade (LDL) muito elevados e subsequente formação prematura de placas ateroscleróticas nas artérias coronárias, aorta proximal e outras artérias, aumentando significativamente o risco de doença cardiovascular prematura e morte. Os xantomas na pele e nos tendões também são uma característica da doença. A letalidade é elevada devido a complicações precoces, em particular enfarte do miocárdio e doença valvular aórtica.
Tem tratamento?
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 16 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 33 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
6 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.
Crucial player in the regulation of plasma cholesterol homeostasis. Binds to low-density lipid receptor family members: low density lipoprotein receptor (LDLR), very low density lipoprotein receptor (VLDLR), apolipoprotein E receptor (LRP1/APOER) and apolipoprotein receptor 2 (LRP8/APOER2), and promotes their degradation in intracellular acidic compartments (PubMed:18039658). Acts via a non-proteolytic mechanism to enhance the degradation of the hepatic LDLR through a clathrin LDLRAP1/ARH-mediat
CytoplasmSecretedEndosomeLysosomeCell surfaceEndoplasmic reticulumGolgi apparatus
Hypercholesterolemia, familial, 3
A form of hypercholesterolemia, a disorder of lipoprotein metabolism characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease. FHCL3 inheritance is autosomal dominant.
Binds low density lipoprotein /LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells by endocytosis. In order to be internalized, the receptor-ligand complexes must first cluster into clathrin-coated pits. Forms a ternary complex with PGRMC1 and TMEM97 receptors which increases LDLR-mediated LDL internalization (PubMed:30443021) (Microbial infection) Acts as a receptor for hepatitis C virus in hepatocytes, but not through a direct interaction with viral proteins
Cell membraneMembrane, clathrin-coated pitGolgi apparatusEarly endosomeLate endosomeLysosome
Hypercholesterolemia, familial, 1
A form of hypercholesterolemia, a disorder of lipoprotein metabolism characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease. FHCL1 inheritance is autosomal dominant.
ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane. Plays an essential role in the selective transport of the dietary cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile (PubMed:11099417, PubMed:11452359, PubMed:15054092, PubMed:27144356). Required for normal sterol homeostasis (PubMed:11099417, PubMed:11452359, PubMed:15054092). The heterodimer with ABCG5 has ATPase act
Cell membraneApical cell membrane
Gallbladder disease 4
One of the major digestive diseases. Gallstones composed of cholesterol (cholelithiasis) are the common manifestations in western countries. Most people with gallstones, however, remain asymptomatic through their lifetimes.
ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane (PubMed:27144356). Plays an essential role in the selective transport of dietary plant sterols and cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile (PubMed:11099417, PubMed:11138003, PubMed:15054092, PubMed:27144356). Required for normal sterol homeostasis (PubMed:11099417, PubMed:11138003, PubMed:15054092). The heter
Cell membraneApical cell membrane
Sitosterolemia 2
A form of sitosterolemia, an autosomal recessive metabolic disorder characterized by unregulated intestinal absorption of cholesterol, phytosterols and shellfish sterols, and decreased biliary excretion of dietary sterols into bile. Patients have hypercholesterolemia, very high levels of plant sterols in the plasma, and frequently develop tendon and tuberous xanthomas, accelerated atherosclerosis and premature coronary artery disease.
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.
Adapter protein (clathrin-associated sorting protein (CLASP)) required for efficient endocytosis of the LDL receptor (LDLR) in polarized cells such as hepatocytes and lymphocytes, but not in non-polarized cells (fibroblasts). May be required for LDL binding and internalization but not for receptor clustering in coated pits. May facilitate the endocytosis of LDLR and LDLR-LDL complexes from coated pits by stabilizing the interaction between the receptor and the structural components of the pits.
Cytoplasm
Hypercholesterolemia, familial, 4
A form of hypercholesterolemia, a disorder of lipoprotein metabolism characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease. FHCL4 inheritance is autosomal recessive.
Medicamentos e terapias
Mecanismo: Angiopoietin-related protein 3 inhibitor
Mecanismo: Subtilisin/kexin type 9 inhibitor
Mecanismo: HMG-CoA reductase inhibitor
Mecanismo: Subtilisin/kexin type 9 inhibitor
Mecanismo: Microsomal triglyceride transfer protein inhibitor
Mecanismo: PCSK9 mRNA RNAi inhibitor
Mecanismo: Cholesteryl ester transfer protein inhibitor
Mecanismo: Microsomal triglyceride transfer protein inhibitor
Mecanismo: Subtilisin/kexin type 9 inhibitor
Mecanismo: Niemann-Pick C1-like protein 1 inhibitor
Variantes genéticas (ClinVar)
4,374 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 132 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
27 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 — Hipercolesterolemia familiar homozigótica
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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
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10 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
81 ensaios clínicos encontrados, 17 ativos.
Publicações mais relevantes
PCSK9-mediated degradation of cell-surface LDL receptors impairs human CD8+ T cell effector functions.
Proprotein convertase subtilisin/kexin type 9 (PCSK9) regulates circulating cholesterol levels by binding hepatic low-density lipoprotein (LDL) receptors (LDLRs) and directing them to lysosomal degradation. Beyond the liver, PCSK9 expression in multiple cancers, including colorectal, hepatocellular, and head and neck carcinomas, correlates with poor survival. We hypothesized that PCSK9 promotes LDLR degradation on CD8+ T cells, limiting cholesterol uptake and impairing antitumor immunity. Treatment of activated human CD8+ T cells from healthy donors with recombinant PCSK9 reduced surface LDLR and ICAM-1 expression, granzyme B secretion, and proliferation. The effects of PCSK9 treatment were reversed by PCSK9 inhibition or by culturing cells under lipoprotein-deprived conditions, confirming LDLR dependence. CD8+ T cells from patients with homozygous familial hypercholesterolemia, who harbor inactivating LDLR mutations, exhibited reduced proliferation and ICAM-1 expression upon activation. Together, these findings identify PCSK9 as a potential therapeutic target to enhance CD8+ T cell-mediated antitumor immunity.
Anti-ANGPTL3 Antibody SHR-1918 for Homozygous Familial Hypercholesterolemia: A Nonrandomized Clinical Trial.
Homozygous familial hypercholesterolemia (HoFH) is a rare, life-threatening genetic disorder. Patients with HoFH have markedly elevated low-density lipoprotein cholesterol (LDL-C) levels from birth, and their activity of LDL receptor (LDLR) is typically absent or severely impaired. However, efficacy of traditional lipid-regulating agents relies on residual LDLR function. Angiopoietinlike 3 (ANGPTL3)-directed therapies could reduce lipid levels through an LDLR-independent pathway. To evaluate SHR-1918, a fully human monoclonal antibody targeting ANGPTL3, in adults with HoFH taking stable lipid-lowering therapy. This was a multicenter, single-arm, phase 2 nonrandomized clinical trial conducted at 8 sites in China between December 19, 2023, and April 2, 2024. Included were participants with HoFH taking stable lipid-lowering therapy. Patients were given subcutaneous SHR-1918 at 600 mg every 4 weeks for 12 weeks, followed by an 8-week follow-up. The primary end point was the percent change in serum LDL-C level from baseline to week 12. A total of 26 patients (mean [SD] age, 36.1 [12.2] years; 16 female [61.5%]) were included in this analysis. The mean (SD) baseline LDL-C level was 433.59 (173.74) mg/dL. At week 12, the mean percent change in LDL-C level was -59.09% (SD, 11.71%; 95% CI, -63.81% to -54.36%). The reduction was observed throughout the entire 8-week follow-up period. SHR-1918 suggested similar LDL-C reduction across HoFH genotypes, with a percent change from baseline to week 12 of -61.32% for homozygous, -56.40% for compound heterozygous, and -72.21% for double heterozygous. Overall, 16 patients (61.5%) had at least 1 treatment-emergent adverse event, with the most common being proteinuria (4 [15.4%]). Injection site reaction occurred in only 1 patient (3.8%) and included pain and rash or erythema (both grade 1). Results show that SHR-1918 was associated with a substantial reduction in LDL-C level and favorable safety profile among patients with HoFH taking stable lipid-lowering therapy. ClinicalTrials.gov Identifier: NCT06009393.
[The safety and efficacy of adeno-associated virus-mediated LDLR transfection in homozygous familial hypercholesterolemia].
Objective: To evaluate the safety and efficacy of an adeno-associated virus vector carrying an optimized human low density lipoprotein receptor (LDLR) gene (NGGT006) in the treatment of homozygous familial hypercholesterolemia (HoFH) with LDLR mutations. Methods: This is an open-label, single-center, single-arm, non-randomized, investigator-initiated clinical trial. According to the dose-escalation principle, enrolled HoFH patients received a single injection of NGGT006 at three different doses: low dose (7.5×1012 vg/kg), medium dose (1.5×1013 vg/kg), or high dose (3.0×1013 vg/kg). The primary endpoint of this study was the safety of NGGT006 treatment, evaluated by the incidence of drug-related adverse events and serious adverse events, and the efficacy of NGGT006 treatment, assessed by percentage and absolute changes in low density lipoprotein-cholesterol (LDL-C) levels. The early results of the first 3 patients after NGGT006 therapy in a 64-week follow-up were reported. Results: The 3 patients were aged 29 to 33 years, including 2 males, and the baseline serum LDL-C levels ranged from 8.95 to 11.17 mmol/L. No effective reduction in LDL-C levels was observed in patients 1 and 2, who were treated with low dose and medium dose of NGGT006, respectively. Patient 3 treated with a high dose of NGGT006 showed a rapid and persistent decrease in LDL-C levels. At the 64-week follow-up, the LDL-C level reduced from 11.17 mmol/L to 0.28 mmol/L, with a relative change of 97.49% compared with baseline. During the entire follow-up period, there were no serious adverse events in any of the patients. Only adverse events graded 2 or lower occurred, such as liver enzyme elevation and mild fever. Conclusions: NGGT006 gene therapy is generally safe and well-tolerated in HoFH patients with LDLR mutations. High-dose NGGT006 treatment can significantly reduce LDL-C levels. Further research is needed to evaluate its long-term efficacy. 目的： 评价一种携带经优化的人低密度脂蛋白受体（LDLR）基因的腺相关病毒载体NGGT006用于治疗LDLR突变的纯合子家族性高胆固醇血症的安全性和有效性。 方法： 本研究为研究者发起的临床研究，是一项开放、单中心、单臂、非随机的前瞻性临床试验。符合纳入标准的纯合子家族性高胆固醇血症患者，采用剂量递增方案，分别接受低剂量7.5×1012 vg/kg，中剂量1.5×1013 vg/kg，高剂量3.0×1013 vg/kg的NGGT006单次注射。对患者进行随访，主要研究终点为NGGT006治疗的安全性，即不良事件和严重不良事件的发生情况，以及NGGT006治疗的有效性，即低密度脂蛋白胆固醇（LDL-C）水平的百分比及绝对值变化。本次对首批分别接受低、中、高剂量治疗的3例患者随访64周的结果进行汇报。 结果： 3例患者年龄为29~33岁，男性2例，基线血清LDL-C水平为8.95~11.17 mmol/L。低、中剂量治疗的2例患者未观察到有效的LDL-C降低。高剂量治疗的患者出现快速、持久的LDL-C下降，随访64周时其LDL-C水平从11.17 mmol/L降至0.28 mmol/L，较基线下降97.49%。整个随访期间所有患者均未发生严重不良事件，治疗期间仅出现肝酶升高和轻度发热等2级及以下的不良事件。 结论： NGGT006治疗LDLR基因突变的纯合子家族性高胆固醇血症具有良好的安全性和耐受性，高剂量NGGT006治疗可明显降低LDL-C水平，其长期疗效仍需进一步验证。.
Lomitapide reduces viability and clonogenicity in hepatocellular carcinoma cells but enhances xenograft growth: The importance of the tumor microenvironment.
Lomitapide, a microsomal triglyceride transfer protein inhibitor approved for the treatment of homozygous familial hypercholesterolemia, has recently attracted interest as a potential anticancer agent because of its effects on lipid metabolism. Given the central role of lipid handling in hepatocellular carcinoma (HCC), we investigated the impact of lomitapide-mediated microsomal triglyceride transfer protein inhibition using complementary in vitro and in vivo models. Lomitapide induced intracellular lipid accumulation and reduced cell viability and clonogenicity in human HCC cell lines (Huh7 and HepG2) in a dose-dependent manner, without affecting cell migration. However, in a subcutaneous xenograft model, lomitapide treatment paradoxically promoted tumor growth, increasing tumor volume, weight, and proliferative markers, whereas apoptosis-related proteins remained unchanged. Tumors from lomitapide-treated mice exhibited enhanced extracellular signal-regulated kinase (ERK) signaling and increased lipid accumulation, alongside reduced systemic lipoprotein levels. To reconcile these opposing effects, we examined the contribution of the tumor microenvironment. Coculture experiments revealed reduced sensitivity of HCC cells to lomitapide in the presence of nonparenchymal cells. Conditioned media studies identified hepatic stellate cells as key mediators of this resistance, associated with increased secretion of interleukin 8 and vascular endothelial growth factor after lomitapide exposure. These factors are known activators of proliferative signaling pathways in HCC. Collectively, our findings demonstrate that lomitapide exerts direct antiproliferative effects on HCC cells under simplified conditions, but promotes tumor growth in vivo through microenvironment-dependent mechanisms. This study highlights the critical influence of stromal-tumor interactions on therapeutic outcomes and urges caution in repurposing lipid-modulating drugs for cancer treatment without accounting for tissue context. SIGNIFICANCE STATEMENT: This study demonstrates that inhibition of microsomal triglyceride transfer protein exerts opposite effects on hepatocellular carcinoma depending on biological context, suppressing tumor cell growth in vitro while promoting tumor expansion in vivo. These findings reveal a decisive role for the tumor microenvironment, particularly stromal cell-derived protumorigenic signals, in shaping therapeutic responses to lipid-modulating drugs.
LDL-C target achievement after adding evinacumab in 2 patients with autosomal recessive hypercholesterolemia.
Autosomal recessive hypercholesterolemia (ARH) is a rare form of genetic hypercholesterolemia consequent to pathogenic variants in the low-density lipoprotein receptor adaptor protein 1 (LDLRAP1) gene, coding for a protein responsible for moving LDL-receptor (LDL-R) to its site of activity. ARH is characterized by very high levels of LDL cholesterol (LDL-C), leading to aggressive and frequently premature atherosclerotic cardiovascular disease (ASCVD). Lowering of LDL-C is the main target of treatment; however, classical lipid-lowering agents, for example, statins, frequently have a modest response, in view of their selective LDL-R-raising activity. Among newer agents with an LDL-R-independent mechanism, evinacumab has been shown to be effective in homozygous familial hypercholesterolemia, but few data are available in LDLRAP1 variant carriers. We here report 2 cases of this extremely rare form of familial hypercholesterolemia with a surprising response to evinacumab. Evinacumab was added to maximally tolerated background therapy. In the first patient, who had severe ASCVD and a prior inadequate response to statins, proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors, and lomitapide, evinacumab reduced time-averaged LDL-C by 82% (from 549 to 62 mg/dL). In the second patient, evinacumab achieved a sustained 73.8% LDL-C reduction, maintaining levels <55 mg/dL and allowing discontinuation of the PCSK9 inhibitor. These cases demonstrate a marked and clinically meaningful LDL-C-lowering effect of evinacumab in ARH, supporting its use as an effective LDL-R-independent therapeutic option.
Publicações recentes
Novel Approaches to Lipid Management: Beyond Statins and PCSK9 Inhibitors.
Left Main Angioplasty for Acute Coronary Syndrome in 7-Year-Old Girl With Familial Hypercholesterolemia.
Comparison of Clinical Characterization and Therapeutic Strategies between Homozygous Familial Hypercholesterolemia and Heterozygous Familial Hypercholesterolemia.
An Improved Prognosis in Subjects With Homozygous Familial Hypercholesterolemia Associated With Advances in LDL-Lowering Therapy.
Traditional cardiovascular risk factors and their association with atherosclerotic cardiovascular disease in homozygous familial hypercholesterolemia: A cross-sectional analysis from the HICC registry.
📚 EuropePMC558 artigos no totalmostrando 197
[The safety and efficacy of adeno-associated virus-mediated LDLR transfection in homozygous familial hypercholesterolemia].
Zhonghua xin xue guan bing za zhiLomitapide reduces viability and clonogenicity in hepatocellular carcinoma cells but enhances xenograft growth: The importance of the tumor microenvironment.
The Journal of pharmacology and experimental therapeuticsLDL-C target achievement after adding evinacumab in 2 patients with autosomal recessive hypercholesterolemia.
Journal of clinical lipidologyBaseline characteristics and response to evinacumab in females and males with homozygous familial hypercholesterolemia in the ELIPSE OLE study.
American journal of preventive cardiologyPCSK9-mediated degradation of cell-surface LDL receptors impairs human CD8+ T cell effector functions.
iScienceVariable phenotype associated with compound LDLR gene mutations in familial hypercholesterolemia patients: Case series and clinical implications.
MedicineHepatocyte-Specific Knockout of YAP Protects Against Atherosclerosis via Inhibition of ANGPTL3 in Mice.
Arteriosclerosis, thrombosis, and vascular biologyA case of presumed homozygous familial hypercholesterolemia.
Journal of clinical lipidologyUpdate on genetics of familial hypercholesterolemia.
Current opinion in lipidologyWhen Pigs Fly into Medicine: Navigating Ethical Challenges Posed by Animal-Derived Medical Products.
The Journal of clinical ethicsThe High Price of Interrupted Follow-Up: Catastrophic Progression of Homozygous Familial Hypercholesterolemia-A Case Report and Literature Review.
Clinical case reportsA nationwide genetic and phenotypic spectrum of 63 probands of homozygous familial hypercholesterolemia in Taiwan.
Journal of clinical lipidologyAssessment of LDL receptor-dependent lipid lowering therapies in patients with homozygous familial hypercholesterolemia according to functional genotype.
AtherosclerosisCryopreserved aortic homograft root replacement for supravalvular root stenosis in familial homozygous hypercholesterolemia.
Journal of cardiothoracic surgeryAortic Stenosis in Homozygous Familial Hypercholesterolemia: The Canadian HoFH Registry.
JACC. AdvancesSevere hypercholesterolemia in a pediatric cohort: Familial homozygous and autosomal recessive hypercholesterolemia.
Journal of clinical lipidologyEarly mortality in children with homozygous familial hypercholesterolemia: Case reports of deaths at ages 5 and 7 and a systematic review of global evidence.
Journal of clinical lipidologyEvinacumab in patients aged 5-17 years with homozygous familial hypercholesterolemia.
AtherosclerosisPCSK9 and ANGPTL3 Inhibitors in Homozygous Familial Hypercholesterolemia: A Meta-analysis of Randomized Clinical Trials.
DrugsAnti-ANGPTL3 Antibody SHR-1918 for Homozygous Familial Hypercholesterolemia: A Nonrandomized Clinical Trial.
JAMA cardiologyCoronary artery bypass grafting in a 14-year-old boy with compound heterozygous LDLR familial hypercholesterolemia: a case report.
Frontiers in pediatricsTherapeutic Plasma Exchange and Evinacumab for Homozygous Familial Hypercholesterolemia.
JACC. Case reportsEffects of evinacumab on high-density lipoprotein function in patients with homozygous familial hypercholesterolemia.
Journal of clinical lipidologyAchieving the impossible: effective reduction of low-density lipoprotein cholesterol (LDL-C) in a patient with homozygous familial hypercholesterolemia.
Endokrynologia PolskaLong-term efficacy and safety of lomitapide in patients with familial chylomicronemia syndrome: Data from an expanded access program.
Journal of clinical lipidologyA real-world analysis of Lomitapide-associated adverse events: Data from FAERS and CVAROD.
MedicineDiagnostic and Therapeutic Challenges of Homozygous and Severe Heterozygous Familial Hypercholesterolemia from Clinical Aspect-A Single-Center Study.
Journal of clinical medicineImputation of untreated LDL-C in treated subjects with homozygous familial hypercholesterolaemia: An international collaboration.
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Journal of clinical lipidologyBreakthrough LDL-C reduction in a patient with autosomal recessive homozygous familial hypercholesterolemia: Efficacy of evinacumab after LDL-apheresis discontinuation.
Journal of clinical lipidologyLipoprotein X: A Cause for Misleading Levels of Low-Density Lipoprotein.
JACC. Case reportsPORTRAIT Survey: Patient-Centered Overview Related to Treatment Practices in Lipoprotein Apheresis: Italian Investigating Trajectories.
Therapeutic apheresis and dialysis : official peer-reviewed journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis TherapyFuture of angiopoietin-like protein 3 inhibitors as a therapeutic agent.
Current opinion in lipidologyCase Report: Beating the assumed prognosis: homozygous familial hypercholesterolemia with unexpected long survival.
Frontiers in cardiovascular medicineAntibody-Based Therapeutics for Hypercholesterolemia.
Biologics : targets & therapyBreaking barriers: Innovative therapies for managing homozygous familial hypercholesterolemia.
Experimental and molecular pathologyLiver Transplantation in a Child With Homozygous Familial Hypercholesterolemia: A Case Report and Literature Review.
Reviews in cardiovascular medicineLomitapide response in a cohort of patients with homozygous familial hypercholesterolemia and the potential influence of MTTP gene variants.
Orphanet journal of rare diseasesHomozygous familial hypercholesterolemia: New therapeutic approach and a call for action!
Archives of cardiovascular diseasesCorneal Arcus, Xanthomas, and Finger Deformities in a Young Woman With Homozygous Familial Hypercholesterolemia.
Case reports in medicineEvinacumab Improved the Homozygous Familial Hypercholesterolemia Lipid Metabolism: A Case Report.
Journal of atherosclerosis and thrombosisSimulation model to estimate pretreatment (baseline) low-density lipoprotein cholesterol levels in people living with homozygous familial hypercholesterolemia.
Journal of clinical lipidology[Clinical features of familial hypercholesterolemia in children].
Zhonghua er ke za zhi = Chinese journal of pediatricsDiscovery, Optimization, and Evaluation of Novel ANGPTL3 Modulators for the Treatment of Hyperlipidemia.
Journal of medicinal chemistryQuality of life and its contributors among patients with homozygous familial hypercholesterolemia in China.
Frontiers in public healthSubclassification of Phenotypic Homozygous Familial Hypercholesterolemia.
JACC. AsiaOne Shock, Not One Cure: Electroporation Reveals Disease-Specific Constraints in Hepatocyte Gene Editing Therapy.
BiologyA Personalized Medicine Approach is Best for Patients with Homozygous Familial Hypercholesterolemia.
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Frontiers in pediatricsLipoprotein apheresis: Current overview and future outlook in clinical practice.
Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for HaemapheresisHomozygous Familial Hypercholesterolemia in a Seven-Year-Old: A Case Study Highlighting the Importance of Early Diagnosis.
CureusDigenic Overlap Syndrome Masquerading as Homozygous Familial Hypercholesterolemia.
JACC. Case reportsRNA Interference-Mediated ANGPTL3 Inhibition: The Emerging Therapeutic Potential of Zodasiran in Lipid Management.
Cardiology in reviewLipoprotein X - Pathophysiology, diagnosis, and management.
Journal of clinical lipidologyLong-term safety and effectiveness of evinacumab in people with homozygous familial hypercholesterolemia: a plain language summary.
Future cardiologyHomozygous familial hypercholesterolemia in a high-consanguinity population: Insights from a Saudi cohort.
Journal of clinical lipidologyProgress and Criteria in Public Health Applications of Gene Therapy and Gene Editing: Beyond the White Paper.
Public health genomicsLong-term experience with lomitapide treatment in patients with homozygous familial hypercholesterolemia: Over 10 years of efficacy and safety data.
Journal of clinical lipidologyGlobal disparities in access to lipid-lowering therapies for patients with homozygous familial hypercholesterolemia - A physician survey.
Journal of clinical lipidologyAAV8-LDLR Gene Therapy in Ldlr-KO and Homozygous Ldlr p.W483X Mice.
Human gene therapyReal-World Effectiveness and Safety of Evinacumab in Children and Adults With Homozygous Familial Hypercholesterolemia: A Multisite US Perspective-Brief Report.
Arteriosclerosis, thrombosis, and vascular biologyEvinacumab and reduced lipoprotein apheresis in pediatric homozygous familial hypercholesterolemia: a retrospective study on LDL-C.
AtherosclerosisEfficacy and Safety of Inclisiran in Adolescents With Genetically Confirmed Homozygous Familial Hypercholesterolemia: Results From the Double-Blind, Placebo-Controlled Part of the ORION-13 Randomized Trial.
CirculationHomozygous Familial Hypercholesterolemia Is a Life-Limiting Condition: Medical Life-Trajectories in the Post-2010 Era.
Journal of the American College of CardiologyAngiopoietin-like protein inhibitors: Promising agents for the treatment of familial hypercholesterolemia and atherogenic dyslipidemia.
AtherosclerosisHomozygous familial hypercholesterolemia evaluation and survival single center study in Saudi Arabia: The HESSA registry.
AtherosclerosisTreatment of Homozygous Familial Hypercholesterolemia.
JACC. AdvancesReal-world family planning and pregnancy practices in women with homozygous familial hypercholesterolemia.
AtherosclerosisEfficacy and outcomes of inclisiran in the management of homozygous and heterozygous familial hypercholesterolemia: a systematic review and meta-analysis.
Annals of medicine and surgery (2012)Lomitapide modifies high-density lipoprotein function in homozygous familial hypercholesterolaemia.
European journal of medical researchSafety and effectiveness of evinacumab in an infant with homozygous familial hypercholesterolemia: A new renaissance for the very young?
Journal of clinical lipidologyEvinacumab for Homozygous Familial Hypercholesterolemia: The Italian Cohort of the ELIPSE HoFH Study.
Advances in therapyOligogenic Familial Hypercholesterolemia Treated by Combination Therapy of Statin, Ezetimibe, PCSK9 Inhibitor, and Lomitapide.
Internal medicine (Tokyo, Japan)Importance of Genotype-Phenotype Correlation in the Population Screening of Familial Hypercholesterolemia.
CureusLife Course Approach for Managing Familial Hypercholesterolemia.
Journal of the American Heart AssociationDepletion of Hepatic SREBP2 Protects Against Hypercholesterolemia and Atherosclerosis through the ANGPTL3-LPL Axis.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Comparison of Model-Predicted and Observed Evinacumab Pharmacokinetics and Efficacy in Children Aged < 5 Years With Homozygous Familial Hypercholesterolemia.
CPT: pharmacometrics & systems pharmacologyPopulation Pharmacokinetics and Exposure-Response Modeling for Evinacumab in Children, Adolescents, and Adults With Homozygous Familial Hypercholesterolemia.
CPT: pharmacometrics & systems pharmacologyShort and Long-Term Outcomes of Liver Transplantation in Pediatric Patients With Inborn Errors of Metabolism: A Single-Center Study.
Pediatric transplantationFamilial hypercholesterolemia in pregnancy.
Current opinion in lipidologyEvinacumab for the treatment of homozygous familial hypercholesterolaemia: first patient case report in Switzerland.
Swiss medical weeklyDramatic response to Evinacumab in a North Indian girl with homozygous familial hypercholesterolemia.
Journal of pediatric endocrinology & metabolism : JPEMHigh burden of disease in patients with homozygous familial hypercholesterolemia despite recent advances in therapies and updated guidelines: A real-world study.
Journal of clinical lipidologyEvinacumab as an adjunct to lipid apheresis in an infant with homozygous familial hypercholesterolemia.
Journal of pediatric endocrinology & metabolism : JPEM[A case of homozygous familial hypercholesterolemia combined with acute myocardial infarction in a child].
Zhonghua xin xue guan bing za zhiEvinacumab for children with homozygous familial hypercholesterolemia: a plain language summary.
Future cardiologyRheumatoid-like hand deformities and aortic valve disease in a 13-year-old girl with homozygous familial hypercholesterolemia: a case report.
Journal of medical case reportsMolecular Therapeutics in Development to Treat Hyperlipoproteinemia.
Molecular diagnosis & therapyLerodalcibep and evolocumab for the treatment of homozygous familial hypercholesterolaemia with PCSK9 inhibition (LIBerate-HoFH): a phase 3, randomised, open-label, crossover, non-inferiority trial.
The lancet. Diabetes & endocrinologyNovel 327bp Alu element insertion in LDLR exon 17 causes alternative splicing and familial hypercholesterolemia.
Journal of clinical lipidologyLiver transplantation for homozygous familial hypercholesterolemia: a retrospective analysis from Chinese experience.
Orphanet journal of rare diseasesExploring emerging pharmacotherapies for type 2 diabetes patients with hypertriglyceridemia.
Expert opinion on pharmacotherapyNew insights into the management of homozygous familial hypercholesterolemia patients treated with lomitapide: a single-center experience.
Frontiers in endocrinologyHomozygous Familial Hypercholesterolemia Treatment: New Developments.
Current atherosclerosis reportsManagement of a young HoFH patient during pregnancy using Lipoprotein Apheresis (whole blood): A novel experience.
Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for HaemapheresisSex-related differences in response to lomitapide in HoFH: A subanalysis of the Pan-European Lomitapide retrospective observational study.
AtherosclerosisAn up-to-date review of emerging biologic therapies for hypercholesterolemia.
Expert opinion on biological therapyThe effectiveness of liver transplantation in reducing lipid levels in Saudi children with homozygous familial hypercholesterolemia.
Frontiers in cardiovascular medicineExtreme LDL-C concentration is associated with increased cardiovascular disease in women with homozygous familial hypercholesterolemia.
Journal of clinical lipidologyTargeted NGS Revealed Pathogenic Mutation in a 13-Year-Old Patient with Homozygous Familial Hypercholesterolemia: A Case Report.
International journal of molecular sciencesRapid lipid-lowering response in two cases of autosomal recessive hypercholesterolemia.
Journal of clinical lipidologyHomozygous Familial Hypercholesterolemia in Spain: Data From Registry of the Spanish Atherosclerosis Society.
The Journal of clinical endocrinology and metabolismClogged Arteries, Safety Net Holes: Treating an Underinsured Patient for Homozygous Familial Hypercholesterolemia With Plasmapheresis.
CureusLomitapide: navigating cardiovascular challenges with innovative therapies.
Molecular biology reportsLong-term effectiveness and safety of lomitapide in patients with homozygous familial hypercholesterolemia: an observational case series.
Orphanet journal of rare diseasesLipoprotein apheresis: an established therapeutic modality for homozygous familial hypercholesterolemia patients refractory to PCSK9 inhibitors: a case report and literature review.
Thrombosis journalIntertriginous Xanthomas: Clues to Homozygous Familial Hypercholesterolemia.
Indian dermatology online journalThe therapeutic effect of liver transplantation in 14 children with homozygous familial hypercholesterolemia: A prospective cohort: Liver transplant for familial hypercholesterolemia.
Journal of clinical lipidologyIs Liver Transplantation Alone an Effective Treatment for Homozygotic Familial Hypercholesterolemia in Children?
Pediatric transplantationAcute Coronary Syndrome in a 9-Year-Old Girl With Homozygous Familial Hypercholesterolemia.
JACC. Case reportsAdvances in targeting LDL cholesterol: PCSK9 inhibitors and beyond.
American journal of preventive cardiologyReal-world experience of long-term efficacy and safety of evinacumab in patients with homozygous familial hypercholesterolemia treated and untreated with lipoprotein apheresis.
Journal of clinical lipidologyThe Long-Term Efficacy and Safety of Evinacumab in Patients With Homozygous Familial Hypercholesterolemia.
JACC. AdvancesEvinacumab Therapy for Homozygous Familial Hypercholesterolemia: Driving Lipoprotein Clearance Via the Road Less Taken.
JACC. AdvancesAlirocumab: Pediatric First Approval.
Paediatric drugsDecreased LDL-Cholesterol Exposure Following ANGPTL3 Inhibition Reduces Coronary Plaque Development in Homozygous Familial Hypercholesterolemia.
JACC. Cardiovascular imagingEvinacumab: Mechanism of action, clinical, and translational science.
Clinical and translational scienceHomozygous familial hypercholesterolemia with xanthomas and a recurrent mutation.
Indian journal of dermatology, venereology and leprologyHigh-density lipoprotein infusion therapy: A review.
Journal of clinical lipidologyIntensive Combination LDL-Lowering Therapy in a Patient With Homozygous Familial Hypercholesterolemia.
JACC. Case reportsManagement of Pregnancy in a Patient with Familial Hypercholesterolemia and Previous Myocardial Infarction-Treatment with LDL Apheresis: A Case Report.
Reports (MDPI)Lomitapide: A Medication Use Evaluation and a Formulary Perspective.
Global journal on quality and safety in healthcareIt is Time to Screen for Homozygous Familial Hypercholesterolemia in the United States.
Global heartEvinacumab and Cardiovascular Outcome in Patients With Homozygous Familial Hypercholesterolemia.
Arteriosclerosis, thrombosis, and vascular biologySupravalvular Aortic Stenosis in Homozygous Familial Hypercholesterolemia: Contemporary Management.
JACC. Case reportsHow can we improve the prognosis of patients with homozygous familial hypercholesterolemia?
AtherosclerosisA machine-learning algorithm using claims data to identify patients with homozygous familial hypercholesterolemia.
Scientific reportsGenetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Williams Syndrome.
Journal of the American Heart AssociationProfiling of differentially expressed MicroRNAs in familial hypercholesterolemia via direct hybridization.
Non-coding RNA researchEvolocumab Treatment in Pediatric Patients With Homozygous Familial Hypercholesterolemia: Pooled Data From Three Open-Label Studies.
Arteriosclerosis, thrombosis, and vascular biologyImproved lipid-lowering treatment and reduction in cardiovascular disease burden in homozygous familial hypercholesterolemia: The SAFEHEART follow-up study.
AtherosclerosisEvinacumab Reduces Triglyceride-Rich Lipoproteins in Patients with Hyperlipidemia: A Post-Hoc Analysis of Three Randomized Clinical Trials.
Cardiovascular drugs and therapyEfficacy of Inclisiran in Patients Having Familial Hypercholesterolemia: Heterozygous Compared to Homozygous Trait, a Systematic Review and Meta-analysis.
Critical pathways in cardiologyHomozygous familial hypercholesterolemia: the impact of novel treatments.
European journal of preventive cardiologyReal-world safety and efficacy of lomitapide in homozygous familial hypercholesterolemia: interim report of special-use survey in Japan.
Future cardiologyPhenotypic homozygous familial hypercholesterolemia successfully treated with proprotein convertase subtilisin/kexin type 9 inhibitors.
Clinical case reportsSex Differences in Diagnosis, Treatment, and Cardiovascular Outcomes in Homozygous Familial Hypercholesterolemia.
JAMA cardiologyUnveiling Familial Hypercholesterolemia-Review, Cardiovascular Complications, Lipid-Lowering Treatment and Its Efficacy.
International journal of molecular sciencesAlirocumab in Pediatric Patients With Heterozygous Familial Hypercholesterolemia: A Randomized Clinical Trial.
JAMA pediatricsLDL-C-Lowering Therapies for Adults and Children With Homozygous Familial Hypercholesterolemia: Challenges and Successes.
CirculationSex differences in the presentation, treatment and outcomes of patients with homozygous familial hypercholesterolemia.
Journal of clinical lipidologyThe Effect of PCSK9 Inhibitors on LDL-C Target Achievement in Patients with Homozygous Familial Hypercholesterolemia: A Retrospective Cohort Analysis.
Advances in therapyModern approaches to the management of homozygous familial hypercholesterolemia in the Middle East and North Africa.
Journal of clinical lipidologyClinical Characteristics of Homozygous Familial Hypercholesterolemia in Japan: A Survey Using a National Database.
JACC. AsiaParadoxical Findings in Homozygous Familial Hypercholesterolemia in Japan: Longer Life But Still Not Totally Better!
JACC. AsiaFamilial Hypercholesterolemia: A Literature Review of the Pathophysiology and Current and Novel Treatments.
CureusClinical practice recommendations on lipoprotein apheresis for children with homozygous familial hypercholesterolemia: an expert consensus statement from ERKNet and ESPN.
medRxiv : the preprint server for health sciencesTraditional and novel non-statin lipid-lowering drugs.
Indian heart journalLiver transplantation for homozygous familial hypercholesterolemia: Cure for a genetic disease?
AtherosclerosisLong-term outcomes of liver transplantation for homozygous familial hypercholesterolaemia in Australia and New Zealand.
AtherosclerosisEvinacumab for Pediatric Patients With Homozygous Familial Hypercholesterolemia.
CirculationReal-World Effectiveness of PCSK9 Inhibitors in Reducing LDL-C in Patients With Familial Hypercholesterolemia in Italy: A Retrospective Cohort Study Based on the AIFA Monitoring Registries.
Journal of the American Heart AssociationEfficacy, Safety, and Tolerability of Inclisiran in Patients With Homozygous Familial Hypercholesterolemia: Results From the ORION-5 Randomized Clinical Trial.
CirculationNew opportunities in the management and treatment of refractory hypercholesterolemia using in vivo CRISPR-mediated genome/base editing.
Nutrition, metabolism, and cardiovascular diseases : NMCDRegression of cutaneous xanthomata in patient with homozygous familial hypercholesterolemia using novel therapies.
Lancet (London, England)Rapid Resolution of Life-Threatening Hypertriglyceridemia after Evinacumab Administration in a Pediatric HSCT Recipient: A Case Report.
Pharmaceuticals (Basel, Switzerland)Does Genotype Affect the Efficacy of PCSK9 Inhibitors in the Treatment of Familial Hypercholesterolemia?
Cardiovascular drugs and therapyMetabolic systems approaches update molecular insights of clinical phenotypes and cardiovascular risk in patients with homozygous familial hypercholesterolemia.
BMC medicineA Review of Progress on Targeting LDL Receptor-Dependent and -Independent Pathways for the Treatment of Hypercholesterolemia, a Major Risk Factor of ASCVD.
CellsModelling the potential long-term survival benefit of evinacumab treatment vs. standard of care in patients with homozygous familial hypercholesterolaemia.
European journal of preventive cardiologyTreatment of Homozygous Familial Hypercholesterolemia With ANGPTL3 Inhibitor, Evinacumab.
JCEM case reportsMultiple Xanthoma Tuberosum in a Case of Familial Homozygous Hypercholesterolemia.
Journal of the ASEAN Federation of Endocrine SocietiesHomozygous Familial Hypercholesterolemia: The Future Looks Brighter But Not for All.
JACC. AdvancesGalNAc-Lipid nanoparticles enable non-LDLR dependent hepatic delivery of a CRISPR base editing therapy.
Nature communications2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance.
European heart journalAdditive Effect of APOE Rare Variants on the Phenotype of Familial Hypercholesterolemia.
Arteriosclerosis, thrombosis, and vascular biologyContemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry.
Journal of the American Heart AssociationHomozygous Familial Hypercholesterolemia in Canada: An Observational Study.
JACC. AdvancesA human iPSC-derived hepatocyte screen identifies compounds that inhibit production of Apolipoprotein B.
Communications biologyLipoprotein(a) levels in children with homozygous familial hypercholesterolaemia: A cross-sectional study.
Journal of clinical lipidologyEvinacumab-dgnb (Evkeeza-REGN1500), A Novel Lipid-Lowering Therapy for Homozygous Familial Hypercholesterolemia.
Cardiology in reviewGene Therapy for Paediatric Homozygous Familial Hypercholesterolaemia.
Heart, lung & circulation[State of the art: lipoprotein apheresis].
Deutsche medizinische Wochenschrift (1946)How Genetic Variants in Children with Familial Hypercholesterolemia Not Only Guide Detection, but Also Treatment.
GenesConcurrent Living Donor Liver Transplantation and Off-Pump Coronary Artery Bypass in a Five-Year-Old Child With Homozygous Familial Hypercholesterolemia: A Case Report.
Transplantation proceedingsIndividualized dosing of evinacumab is predicted to yield reductions in drug expenses.
Journal of clinical lipidologyGenetic Identification of Homozygous Familial Hypercholesterolemia by Long-Read Sequencing Among Patients With Clinically Diagnosed Heterozygous Familial Hypercholesterolemia.
Circulation. Genomic and precision medicine[Impact of orthotopic liver transplantation on serum lipid level and growing development in patients with homozygous or compound heterozygous familial hypercholesterolemia].
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MMW Fortschritte der MedizinSevere Dyslipidemia Mimicking Familial Hypercholesterolemia Induced by High-Fat, Low-Carbohydrate Diets: A Critical Review.
NutrientsSARS-CoV-2 infection-related deregulation of blood lipids in a patient with -/-LDLR familial homozygous hypercholesterolemia: A case report.
Journal of clinical lipidologyManagement and clinical outcomes of patients with homozygous familial hypercholesteremia in Saudi Arabia.
Monaldi archives for chest disease = Archivio Monaldi per le malattie del toraceGenotype-phenotype correlation in a large cohort of pediatric patients with heterozygous and homozygous familial hypercholesterolemia.
Current opinion in lipidologyApheresis: What Should a Clinician Know?
Current atherosclerosis reportsCase report: Therapy adherence, MTTP variants, and course of atheroma in two patients with HoFH on low-dose, long-term lomitapide therapy.
Frontiers in geneticsCurrent Treatment Options in Homozygous Familial Hypercholesterolemia.
Pharmaceuticals (Basel, Switzerland)Metabolomic Approach to Screening Homozygotes in Chinese Patients with Severe Familial Hypercholesterolemia.
Journal of clinical medicineA PCSK9 inhibitor induces a transient decrease in the neutrophil-lymphocyte ratio and monocyte-lymphocyte ratio in homozygous familial hypercholesterolemia patients.
Atherosclerosis plusHow ANGPTL3 Inhibition Will Help Our Clinical Practice?
Current atherosclerosis reportsCounseling couples at risk of having a child with homozygous familial hypercholesterolemia - Clinical experience and recommendations.
Journal of clinical lipidology[Identifying possible homozygous familial hypercholesterolemia patients: an Italian experts' opinion].
Giornale italiano di cardiologia (2006)Long-term hepatic safety of lomitapide in homozygous familial hypercholesterolaemia.
Liver international : official journal of the International Association for the Study of the LiverHomozygous Familial Hypercholesterolemia: Luck Meets Opportunity Meets Knowledge.
JACC. Case reportsAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Hipercolesterolemia familiar homozigótica.
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Hipercolesterolemia familiar homozigótica
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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.
- PCSK9-mediated degradation of cell-surface LDL receptors impairs human CD8+ T cell effector functions.
- Anti-ANGPTL3 Antibody SHR-1918 for Homozygous Familial Hypercholesterolemia: A Nonrandomized Clinical Trial.
- [The safety and efficacy of adeno-associated virus-mediated LDLR transfection in homozygous familial hypercholesterolemia].
- Lomitapide reduces viability and clonogenicity in hepatocellular carcinoma cells but enhances xenograft growth: The importance of the tumor microenvironment.
- LDL-C target achievement after adding evinacumab in 2 patients with autosomal recessive hypercholesterolemia.
- Novel Approaches to Lipid Management: Beyond Statins and PCSK9 Inhibitors.
- Left Main Angioplasty for Acute Coronary Syndrome in 7-Year-Old Girl With Familial Hypercholesterolemia.
- Comparison of Clinical Characterization and Therapeutic Strategies between Homozygous Familial Hypercholesterolemia and Heterozygous Familial Hypercholesterolemia.
- An Improved Prognosis in Subjects With Homozygous Familial Hypercholesterolemia Associated With Advances in LDL-Lowering Therapy.
- Traditional cardiovascular risk factors and their association with atherosclerotic cardiovascular disease in homozygous familial hypercholesterolemia: A cross-sectional analysis from the HICC registry.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:391665(Orphanet)
- MONDO:0018328(MONDO)
- GARD:10416(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q15815863(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
