Hypercholesterolemia, Familial
|
0.500 |
Biomarker
|
disease |
BEFREE |
The efficacy of PCSK9 inhibitors in homozygous FH may be partly predicted by the LDLR variants.
|
31833051 |
2020 |
Hypercholesterolemia, Familial
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant familial hypercholesterolemia (FH) is caused by mutations in LDLR,APOB and PCSK9.
|
31809983 |
2020 |
Hypercholesterolemia, Familial
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
PCSK9 is the last member of the proprotein convertases (PCs) family and its gene is mutated in ~ 2% to 3% of individuals with familial hypercholesterolemia (FH).
|
31386798 |
2020 |
Hypercholesterolemia, Familial
|
0.500 |
Biomarker
|
disease |
BEFREE |
The new option of proprotein convertase subtilisin/kexin type 9 gene inhibitors in addition to other current optimal lipid-lowering strategies might help to further improve clinical outcome in patients with probable/definite FH.
|
30344049 |
2020 |
Hypercholesterolemia, Familial
|
0.500 |
Biomarker
|
disease |
BEFREE |
In a span of approximately 15 years, PCSK9 has morphed from an esoteric and rare cause of familial hypercholesterolemia (FH) into the most efficient cholesterol-lowering target ever known, with the completion of two large scale cardiovascular outcome trials showing positive results.
|
31151804 |
2020 |
Hypercholesterolemia, Familial
|
0.500 |
Biomarker
|
disease |
BEFREE |
A pathogenic variant in LDLR, APOB, or PCSK9 can be identified in 30% to 80% of patients with clinically-diagnosed familial hypercholesterolemia (FH).
|
31345425 |
2019 |
Hypercholesterolemia, Familial
|
0.500 |
Biomarker
|
disease |
BEFREE |
Although therapeutic monoclonal antibodies that inhibit proprotein convertase subtilisin-kexin type 9 (PCSK9) are indicated for LDL-C reduction among adult patients with FH, placebo-controlled outcome data among FH patients are scant.
|
29685591 |
2019 |
Hypercholesterolemia, Familial
|
0.500 |
Biomarker
|
disease |
BEFREE |
The current scope of PCSK9 inhibitor therapy in preventive cardiology is limited to patients with familial hypercholesterolemia and/or established atherosclerotic cardiovascular disease.
|
31246589 |
2019 |
Hypercholesterolemia, Familial
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A total of 249 patients with molecularly and/or clinically (Dutch Lipid Clinic Network score > 6) defined familial hypercholesterolemia who had experienced a first cardiovascular event were consecutively included and plasma proprotein convertase subtilisin/kexin type 9 concentrations were measured by enzyme-linked immunosorbent assay.
|
31604401 |
2019 |
Hypercholesterolemia, Familial
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The onus is on clinicians to identify kindreds with FH, as PCSK9 inhibitors, although expensive, are funded for patients with FH in Australia.
|
30579649 |
2019 |
Hypercholesterolemia, Familial
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Methods Out of 196 patients with clinically suspected FH (LDL-cholesterol [LDL-C] levels above 3.37 mmol/L, cholesterol level above 6.46 mmol/L in a first-degree relative or the presence of premature cardiovascular acute disease in a first/second-degree relative), we screened 164 index cases for mutations in the LDLR, APOB and PCSK9 genes.
|
30710474 |
2019 |
Hypercholesterolemia, Familial
|
0.500 |
Biomarker
|
disease |
BEFREE |
We report the case of a 41-year-old woman with familial hypercholesterolaemia and premature cardiovascular disease, who was non-responsive to the action of PCSK9 inhibitor solely due to the incorrect subcutaneous injection technique.
|
29685715 |
2019 |
Hypercholesterolemia, Familial
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Pharmacokinetic and pharmacodynamic assessment of alirocumab in patients with familial hypercholesterolemia associated with proprotein convertase subtilisin/kexin type 9 gain-of-function or apolipoprotein B loss-of-function mutations.
|
31767518 |
2019 |
Hypercholesterolemia, Familial
|
0.500 |
Biomarker
|
disease |
BEFREE |
Evolocumab, a fully human monoclonal antibody to proprotein convertase subtilisin/kexin type 9, is safe and effective in reducing low-density lipoprotein cholesterol in adults with familial hypercholesterolemia.
|
30318065 |
2019 |
Hypercholesterolemia, Familial
|
0.500 |
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 |
Hypercholesterolemia, Familial
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The monogenic cause of FH includes apolipoprotein B (APOB), low-density lipoprotein receptor (LDLR), and proprotein convertase subtilisin/kexin 9 (PCSK9).
|
30949068 |
2019 |
Hypercholesterolemia, Familial
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We demonstrated that p.(Arg499His) PCSK9 variant causes a direct intracellular degradation of LDLr therefore causing FH by reducing LDLr availability.
|
31518966 |
2019 |
Hypercholesterolemia, Familial
|
0.500 |
Biomarker
|
disease |
BEFREE |
Since launching a new class of lipid-lowering agents, proprotein convertase subtilisin/kexin type 9 (PCSK9) antibody and microsome triglyceride transfer protein inhibitors, the indication for lipoprotein apheresis in FH has been changing.
|
31231083 |
2019 |
Hypercholesterolemia, Familial
|
0.500 |
Biomarker
|
disease |
BEFREE |
The gene encoding PCSK9 was first identified and linked to the phenotype of familial hypercholesterolaemia approximately 15 years ago.
|
30420622 |
2019 |
Hypercholesterolemia, Familial
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The incidence rates of low-density lipoprotein receptor (LDLR) and apolipoprotein B (APOB) mutations were 82% and 9%, and proprotein convertase subtilisin/kexin type 9 (PCSK9) mutations were rare in Chinese patients with FH.
|
30876527 |
2019 |
Hypercholesterolemia, Familial
|
0.500 |
Biomarker
|
disease |
BEFREE |
Economic evaluation of lipid lowering with PCSK9 inhibitors in patients with familial hypercholesterolemia: Methodological aspects.
|
31280039 |
2019 |
Hypercholesterolemia, Familial
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
The PCSK9 levels were elevated in FH (P < .001).
|
29102496 |
2019 |
Hypercholesterolemia, Familial
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is a monogenic dominant inherited disorder of lipid metabolism characterized by elevated low-density lipoprotein levels, and is mainly attributable to mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proportein convertase subtilisin/kexin type 9 (PCSK9) genes.
|
30681615 |
2019 |
Hypercholesterolemia, Familial
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Motivated by the FH mutation data on PCSK9, we found that modeling the PCSK9/LDLR interface revealed extensive electron delocalization between and within the protein partners.
|
31805108 |
2019 |
Hypercholesterolemia, Familial
|
0.500 |
Biomarker
|
disease |
BEFREE |
Patients with familial hypercholesterolaemia (FH) may require proprotein convertase subtilisin/kexin-type 9 (PCSK9) mAb as add-on therapy to achieve LDL-cholesterol (LDL-C) goals.
|
31100618 |
2019 |