Background And Aims: We aimed to estimate the frequency of cardiovascular diseases in familial hypercholesterolemia (FH) patients in Bosnia and Herzegovina.
Methods: We screened lipid profiles in the hospital system during the period March 2008-November 2016, and included 307 patients with LDL>4.5 mmol/L. FH was diagnosed according to the Dutch Lipid Clinic Network (DLCN) criteria. Followed parameters were: the presence of coronary artery disease (CAD), premature CAD (defined as men<55yrs,women<65yrs), cerebral vascular disease (CVD). Patients were divided into 4 groups according to the DLCN criteria: Group1 - definite FH, Group2 - probable FH, Group 3 - possible FH, Group4 - unlikely FH. Patients with incomplete data and secondary causes of hyperlipidemia were not included. Statistical analysis was done using the SPSS software package Version 19.0.
Results: There were 307 patients. Group1 counted 16 patients; Group2, 56; Group3, 140, and Group4, 95. In Group1, CAD was diagnosed in 7 patients (43.75%); PCAD in 7 (43.75%); CVD in 2 (12.5%). In Group2, CAD was diagnosed in 25 patients (44.6%); PCAD in 23 (41.1%); and CVD in 8 (14.3%). In Group3, CAD was diagnosed in 64 cases (45.7%); PCAD in 29 (20.7%); and CVD in 47 (33.6%). In Group4, CAD was diagnosed in 19 patients (20%); PCAD in 3 (3.2%); and CVD in 73 (76.8%). CAD was significantly more present in Groups 1,2 and 3 compared with Group4. Occurrence of PCAD was statistically significant in patients with definite and probable FH compared with Groups 3 and 4 (p < 0.05). There was a significant difference in the appearance of CVD in Group4 compared with Groups 1,2 and 3.
Conclusions: Definitive and possible FH groups were strongly associated with PCAD and CAD, while CVD was significantly higher in the unlikely FH group. Screening program and worldwide information exchange are essential to spread the knowledge about FH prevalence.
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http://dx.doi.org/10.1016/j.atherosclerosis.2018.06.880 | DOI Listing |
J Clin Lipidol
December 2024
Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, 201002, India; Apollo Genomics Institute, Indraprastha Apollo Hospital, New Delhi, 110076, India. Electronic address:
Background: Homozygous familial hypercholesterolemia (HoFH) is a severe form of familial hypercholesterolemia (FH), characterized by high low-density lipoprotein cholesterol (LDL-C) levels and increased coronary artery disease risk. This study reports a novel Alu insertion in the LDLR gene in a consanguineous Indian family, causing FH.
Objective: To identify and characterize the mutation causing HoFH in a proband and their family members.
JAMA Netw Open
January 2025
Department of Medicine, Harvard Medical School, Boston, Massachusetts.
Importance: Disease characteristics of genetically mediated coronary artery disease (CAD) on coronary angiography and the association of genomic risk with outcomes after coronary angiography are not well understood.
Objective: To assess the angiographic characteristics and risk of post-coronary angiography outcomes of patients with genomic drivers of CAD: familial hypercholesterolemia (FH), high polygenic risk score (PRS), and clonal hematopoiesis of indeterminate potential (CHIP).
Design, Setting, And Participants: A retrospective cohort study of 3518 Mass General Brigham Biobank participants with genomic information who underwent coronary angiography was conducted between July 18, 2000, and August 1, 2023.
Gac Med Mex
January 2025
Universidad de Buenos Aires, Facultad de Farmacia y Bioquímica, Departamento de Bioquímica Clínica, Laboratorio de Lípidos y Aterosclerosis, Ciudad Autónoma de Buenos Aires.
Introduction: LDL-cholesterol greater than 190 mg/dL indicates severe hypercholesterolemia (HS) of monogenic and/or polygenic origin. Genetic risk scores (GRS) evaluate potential polygenic causes.
Objective: we applied a GRS of 6-SNP (GRS-6) in HS individuals.
Rev Esp Enferm Dig
January 2025
Digestive Diseases, Hospital Universitario Virgen de las Nieves, España.
Cholesterol ester storage disease (CESD) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene, leading to reduced lysosomal acid lipase activity, cholesterol ester accumulation, and systemic manifestations including liver dysfunction and dyslipidemia. We report the case of a 25-year-old male presenting with subacute jaundice, hyperbilirubinemia (total bilirubin 51 mg/dL, predominantly direct), and dyslipidemia characterized by elevated total cholesterol and low HDL cholesterol levels. Initial diagnostic workup for acute hepatitis and liver dysfunction, including serological and imaging studies, was unremarkable.
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