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Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutations affecting ligand-binding domain and the R3500Q mutation of the apoB gene in patients from a South European population.
Transl Res. 2008 Mar; 151(3):162-7.TR

Abstract

Familial hypercholesterolemia (FH) and familial defective apoB 100 (FDB) are characterized by increased plasma low-density lipoprotein cholesterol (LDLc) levels and risk of coronary heart disease (CHD). FDB is clinically indistinguishable from FH. The aims of this study were to evaluate clinical diagnosis criteria for FDB and to compare the lipoprotein phenotype between carriers of LDL receptor (LDLR) gene mutations that affect the ligand-binding domain and subjects with the R3500Q mutation in apoB gene. We studied 213 subjects (113 probands) with FH and 19 heterozygous FDB subjects. Genetic diagnosis was determined by following a protocol based on Southern blot and polymerase chain reaction-single strand conformation polymorphism (SSCP) analysis. Thirty FH carriers of LDLR gene missense mutations that affect ligand-binding domain were matched by age, gender, and body mass index to the 19 FDB subjects (R3500Q mutation). Lipoprotein phenotype comparison was conducted between the 2 groups. FH patients showed plasma total and LDL cholesterol levels significantly higher than those in FDB patients. Three FDB showed plasma total and LDLc values in the normal range. Using the 1999 clinical Med-Ped criteria for diagnosis of genetic hypercholesterolemia, no FDB subjects had a confirmed diagnosis; it was probable in 36% of the subjects, it was possible in 32% of the subjects, and it could be excluded in the remaining 32% of the subjects. We conclude that the FDB lipoprotein phenotype was significantly less severe than that observed in FH carriers of LDLR gene missense ligand-binding domain mutations. Clinical Med-Ped diagnosis criteria tend to under-diagnose FDB.

Authors+Show Affiliations

Service of Endocrinology and Nutrition, Hospital Clinico Universitario, Department of Medicine, University of Valencia, Valencia, Spain.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Comparative Study
Evaluation Study
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

18279815

Citation

Ejarque, Ismael, et al. "Evaluation of Clinical Diagnosis Criteria of Familial Ligand Defective apoB 100 and Lipoprotein Phenotype Comparison Between LDL Receptor Gene Mutations Affecting Ligand-binding Domain and the R3500Q Mutation of the apoB Gene in Patients From a South European Population." Translational Research : the Journal of Laboratory and Clinical Medicine, vol. 151, no. 3, 2008, pp. 162-7.
Ejarque I, Real JT, Martinez-Hervas S, et al. Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutations affecting ligand-binding domain and the R3500Q mutation of the apoB gene in patients from a South European population. Transl Res. 2008;151(3):162-7.
Ejarque, I., Real, J. T., Martinez-Hervas, S., Chaves, F. J., Blesa, S., Garcia-Garcia, A. B., Millan, E., Ascaso, J. F., & Carmena, R. (2008). Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutations affecting ligand-binding domain and the R3500Q mutation of the apoB gene in patients from a South European population. Translational Research : the Journal of Laboratory and Clinical Medicine, 151(3), 162-7. https://doi.org/10.1016/j.trsl.2007.12.001
Ejarque I, et al. Evaluation of Clinical Diagnosis Criteria of Familial Ligand Defective apoB 100 and Lipoprotein Phenotype Comparison Between LDL Receptor Gene Mutations Affecting Ligand-binding Domain and the R3500Q Mutation of the apoB Gene in Patients From a South European Population. Transl Res. 2008;151(3):162-7. PubMed PMID: 18279815.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutations affecting ligand-binding domain and the R3500Q mutation of the apoB gene in patients from a South European population. AU - Ejarque,Ismael, AU - Real,Jose T, AU - Martinez-Hervas,Sergio, AU - Chaves,F Javier, AU - Blesa,Sebastian, AU - Garcia-Garcia,Ana B, AU - Millan,Enrique, AU - Ascaso,Juan F, AU - Carmena,Rafael, Y1 - 2008/01/07/ PY - 2007/07/22/received PY - 2007/12/01/revised PY - 2007/12/04/accepted PY - 2008/2/19/pubmed PY - 2008/4/3/medline PY - 2008/2/19/entrez SP - 162 EP - 7 JF - Translational research : the journal of laboratory and clinical medicine JO - Transl Res VL - 151 IS - 3 N2 - Familial hypercholesterolemia (FH) and familial defective apoB 100 (FDB) are characterized by increased plasma low-density lipoprotein cholesterol (LDLc) levels and risk of coronary heart disease (CHD). FDB is clinically indistinguishable from FH. The aims of this study were to evaluate clinical diagnosis criteria for FDB and to compare the lipoprotein phenotype between carriers of LDL receptor (LDLR) gene mutations that affect the ligand-binding domain and subjects with the R3500Q mutation in apoB gene. We studied 213 subjects (113 probands) with FH and 19 heterozygous FDB subjects. Genetic diagnosis was determined by following a protocol based on Southern blot and polymerase chain reaction-single strand conformation polymorphism (SSCP) analysis. Thirty FH carriers of LDLR gene missense mutations that affect ligand-binding domain were matched by age, gender, and body mass index to the 19 FDB subjects (R3500Q mutation). Lipoprotein phenotype comparison was conducted between the 2 groups. FH patients showed plasma total and LDL cholesterol levels significantly higher than those in FDB patients. Three FDB showed plasma total and LDLc values in the normal range. Using the 1999 clinical Med-Ped criteria for diagnosis of genetic hypercholesterolemia, no FDB subjects had a confirmed diagnosis; it was probable in 36% of the subjects, it was possible in 32% of the subjects, and it could be excluded in the remaining 32% of the subjects. We conclude that the FDB lipoprotein phenotype was significantly less severe than that observed in FH carriers of LDLR gene missense ligand-binding domain mutations. Clinical Med-Ped diagnosis criteria tend to under-diagnose FDB. SN - 1931-5244 UR - https://www.unboundmedicine.com/medline/citation/18279815/Evaluation_of_clinical_diagnosis_criteria_of_familial_ligand_defective_apoB_100_and_lipoprotein_phenotype_comparison_between_LDL_receptor_gene_mutations_affecting_ligand_binding_domain_and_the_R3500Q_mutation_of_the_apoB_gene_in_patients_from_a_South_European_population_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1931-5244(07)00335-0 DB - PRIME DP - Unbound Medicine ER -