|
Familial hypercholesterolemia - homozygous
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Homozygous familial hypercholesterolemia (hoFH) is either diagnosed on the identification of pathogenic genetic variants in LDLR, APOB, or PCSK9 or by phenotypic parameters of which an extremely elevated LDL-C level >13 mmol/L (>500 mg/dL) is the most prominent hallmark.
|
30795984 |
2020 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
Biomarker
|
disease |
BEFREE |
Even if proprotein convertase subtilisin/kexin type 9 inhibitors have replaced lipoprotein apheresis in many patients, lipoprotein apheresis still is an important option in homozygous familial hypercholesterolemia, progressive atherosclerosis or when removal of lipoprotein(a) is indicated.
|
31782556 |
2019 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the genes for the low-density lipoprotein receptor (LDLR), apolipoprotein B, and proprotein convertase subtilisin/kexin type 9 have been reported to cause heterozygous and homozygous familial hypercholesterolemia (FH).
|
29396260 |
2019 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We propose the following classification: familial hypercholesterolemia syndrome integrated by (1) heterozygous familial hypercholesterolemia: patients with clinically definite FH and a functional mutation in one allele of the LDLR, ApoB:100, and PCSK9 genes; (2) homozygous familial hypercholesterolemia: mutations affect both alleles; (3) polygenic familial hypercholesterolemia: patients with clinically definite FH but no mutations associated with FH are found (to be distinguished from non-familial, multifactorial hypercholesterolemia); (4) familial hypercholesterolemia combined with hypertriglyceridemia: a subgroup of familial combined hyperlipidaemia patients fulfilling clinically definite FH with associated hypertriglyceridemia.
|
31238171 |
2019 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
Biomarker
|
disease |
BEFREE |
Eight patients with either a clinical or genetic diagnosis of HoFH on stable standard of care, including statins, ezetimibe, and PCSK9 inhibitors, were treated with gemcabene in an open-label study for 12 weeks.
|
31685212 |
2019 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
Biomarker
|
disease |
BEFREE |
Evolocumab is a monoclonal antibody that inhibits PCSK9 and has been evaluated in phase II and III studies as monotherapy, in combination with statins and other lipid-lowering therapies, in patients who are statin intolerant, and in patients with heterozygous and homozygous familial hypercholesterolemia.
|
29511875 |
2018 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
Biomarker
|
disease |
BEFREE |
We aimed to assess the long-term safety and efficacy of the proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitor evolocumab in a subset of patients with homozygous familial hypercholesterolaemia enrolled in an open-label, non-randomised phase 3 trial.
|
28215937 |
2017 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
Biomarker
|
disease |
BEFREE |
The therapeutic approach for patients with homozygous familial hypercholesterolemia is unambiguous: In addition to LA, in order to improve LDL-C reduction, PCSK9-I could be applied.
|
29096860 |
2017 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
Biomarker
|
disease |
BEFREE |
PCSK9 inhibitors are quite effective in receptor defective HoFH, are safe and are less expensive.
|
27839699 |
2016 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.
|
26374825 |
2015 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing.
|
25962062 |
2015 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
Biomarker
|
disease |
BEFREE |
Inhibition of PCSK9 with evolocumab in homozygous familial hypercholesterolaemia (TESLA Part B): a randomised, double-blind, placebo-controlled trial.
|
25282520 |
2015 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Clinical significance of measuring soluble LR11, a circulating marker of atherosclerosis and HbA1c in familial hypercholesterolemia.
|
24859021 |
2014 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Amino acid substitutions in the human LDLR confer partial resistance to PCSK9 and IDOL regulatory pathways with improved reduction in cholesterol levels and improve on a potential gene therapeutic approach to treat homozygous familial hypercholesterolemia subjects.
|
25023731 |
2014 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Genotypic and phenotypic features in homozygous familial hypercholesterolemia caused by proprotein convertase subtilisin/kexin type 9 (PCSK9) gain-of-function mutation.
|
25014035 |
2014 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
New therapies such as mipomersen, a second-generation antisense oligonucleotide, microsomal triglyceride transfer protein inhibitors that decrease the synthesis of apolipoprotein B-containing lipoproteins and proprotein convertase subtilisin/kexin type 9 inhibitors hold promise in reducing cholesterol levels in those patients in whom low density lipoprotein cholesterol (LDL-C) reduction is required beyond the use of statins, especially in those with severe heterozygous familial hypercholesterolaemia or homozygous familial hypercholesterolaemia.
|
24870549 |
2014 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Elevated PCSK9 levels in untreated patients with heterozygous or homozygous familial hypercholesterolemia and the response to high-dose statin therapy.
|
23537802 |
2013 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan.
|
21146822 |
2011 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
The E32K variant of PCSK9 exacerbates the phenotype of familial hypercholesterolaemia by increasing PCSK9 function and concentration in the circulation.
|
20006333 |
2010 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Genetic variants in PCSK9 in the Japanese population: rare genetic variants in PCSK9 might collectively contribute to plasma LDL cholesterol levels in the general population.
|
17316651 |
2008 |