A multidisciplinary group of FH experts, in collaboration with a sounding board of FH patients (n = 166), developed a health-related outcomes set containing the domains: medication adherence (MARS-5), smoking, self-efficacy and self-management, quality of life (QOL) (EQ-5D-5L), reported adverse drug reactions, lipid outcome measures, and FH and cardiovascular risk factor knowledge.Knowledge scores ranged from 0 to 10.
A multidisciplinary group of FH experts, in collaboration with a sounding board of FH patients (n = 166), developed a health-related outcomes set containing the domains: medication adherence (MARS-5), smoking, self-efficacy and self-management, quality of life (QOL) (EQ-5D-5L), reported adverse drug reactions, lipid outcome measures, and FH and cardiovascular risk factor knowledge.Knowledge scores ranged from 0 to 10.
We measured glucose and lipid profile, S100A12, sRAGE, esRAGE and PWV in 39 patients with a genetically confirmed diagnosis of FH and 39 hypercholesterolemic subjects without a clinical diagnosis of FH (Dutch score ≤ 3).
In the present study, we have shown that the rs12526453 single-nucleotide polymorphism of the PHACTR1 gene is significantly associated with a 50% reduction in the odds of CAD events in FH subjects.
The genes <i>STAP1</i> (signal transducing adaptor family member 1), <i>CYP7A1</i> (cytochrome P450 family 7 subfamily A member 1), <i>LIPA</i> (lipase A, lysosomal acid type), <i>ABCG5</i> (ATP binding cassette subfamily G member 5), <i>ABCG8</i> (ATP binding cassette subfamily G member 8), and <i>PNPLA5</i> (patatin like phospholipase domain containing 5), which can cause aberrations of lipid metabolism, are being evaluated as new targets for the diagnosis and personalized management of familial hypercholesterolemia.
These data indicate that FH induces regional, not generalized, vasomotor dysfunction and that FH and normal swine exhibit unique tissue blood flow responses to PDE5 inhibition thereby adding to accumulating evidence of vascular bed-specific dysfunction in co-morbid conditions.
Via genetic counseling and clinical management of carriers, we were able to reclassify 51% of the study participants from having previously established nonspecific hypercholesterolemia to having FH and identify 32% who were completely unaware of harboring a high-risk disease-associated genetic variant.
Here, we investigated the cellular pathogenic mechanisms of three mutations in LDLR causing FH, which are structurally identical to pathogenic mutations in the very low-density lipoprotein receptor (VLDLR).
The objectives of the study were to improve the molecular diagnosis of familial hypercholesterolemia (FH) and to estimate the frequency of the ARH1 allele in 2 free-living Sicilian populations.
Serum FGF23 is not elevated in patients with HoFH when compared to non-familial hypercholesterolemia age- and gender-matched controls, and there is no correlation between serum FGF23 and cardiovascular disease in patients with HoFH.
Lipoprotein-associated phospholipase A₂ activity is increased in patients with definite familial hypercholesterolemia compared with other forms of hypercholesterolemia.
MiTF has been known to be positive in FH tumors, but this is the first study evaluating ninety-three fibrohistiocytic neoplasms to understand and delineate the staining pattern of MiTF in these tumors.
The aim of this narrative review is to update the current knowledge on the pathophysiological mechanisms linking FH to ROS generation and their detrimental impact on atherosclerotic pathophysiology.
We examined the individual and collective association between putatively pathogenic FH variants included on the MVP biobank array and the maximum LDL-C level over an interval of 15 years (maxLDL).
The serum level of afamin and oxidized LDL were measured by enzyme-linked immunosorbent assay in six severe heterozygous FH patients before and after their first LDL apheresis treatments and in seven healthy controls.
We aimed to identify new single-nucleotide variants (SNVs) located at the 3' untranslated regions (3'UTRs) of the low-density lipoprotein receptor, low-density lipoprotein receptor-related protein-associated protein 1, ATP-binding cassette sub-family G member 5, and sterol regulatory element-binding protein 2 genes in non-FH-GH individuals and investigated whether the association of these SNVs with non-FH-GH could be explained by changes in the affinity of regulatory microRNAs (miRNA) targeting the sequences modified by the SNVs.