Differences in clinical presentation between subjects with a phenotype of familial hypercholesterolemia determined by defects in the LDL-receptor and defects in Apo B-100;Differencias en la presentación clínica en sujetos con fenotipo de hipercolesterolemia familiar por defectos en el receptor LDL y por defectos de la apo B-100

Revista Espanola de Cardiologia

Volumn 56, Issue 8, 2003, Pages 769-774

  García Álvarez, Ignacio ^a   Castillo, Sergio ^b   Mozas, Pilar ^b   Tejedor, Diego ^b   Reyes, Gilberto ^b   Artieda, Marta ^a   Cenarro, Ana ^a   Alonso, Rodrigo ^c   Mata, Pedro ^c   Pocovi, Miguel ^b   Civeira, Fernando ^a  

^a HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

^b UNIVERSITY OF ZARAGOZA   (Spain)

^c Hospital UniversitarioFundación Jiménez Díaz   (Spain)

Author keywords

Genetics; Hypercholesterolemia; Low density lipoproteins

Indexed keywords

APOLIPOPROTEIN B100; CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; APOLIPOPROTEIN B;

ADULT; ANTHROPOMETRY; ARTICLE; BLOOD PRESSURE MEASUREMENT; BODY MASS; CARDIOVASCULAR DISEASE; CHOLESTEROL BLOOD LEVEL; CIGARETTE SMOKING; CLINICAL FEATURE; CONTROLLED STUDY; CORNEA DISEASE; DATA ANALYSIS; FAMILIAL HYPERCHOLESTEROLEMIA; HIP; HUMAN; MAJOR CLINICAL STUDY; MORBIDITY; MORTALITY; PHENOTYPE; PROTEIN DEFECT; RELATIVE; RISK ASSESSMENT; STATISTICAL SIGNIFICANCE; VASCULAR DISEASE; XANTHOMA; BLOOD; COMPARATIVE STUDY; GENETICS; HYPERLIPOPROTEINEMIA TYPE 2; INCIDENCE; MIDDLE AGED;

APOLIPOPROTEIN B-100; APOLIPOPROTEINS B; CARDIOVASCULAR DISEASES; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; INCIDENCE; MIDDLE AGED; PHENOTYPE; RECEPTORS, LDL;

EID: 0141669265     PISSN: 03008932     EISSN: None     Source Type: Journal    
DOI: 10.1157/13050330     Document Type: Article

References (29)

1. Carmena R, Real JT, Ascaso JF. Hipercolesterolemias primarias: hipercolesterolemia familiar, defecto familiar de apo B-100 e hipercolesterolemia poligénica. En: Carmena R, Ordovás JM, editores. Hiperlipemias: clínica y tratamiento. Barcelona: Ediciones Doyma S.A., 1999; p. 85-97.
2. Müller C. Xanthomata, hypercholesterolemia and angina pectoris. Acta Med Scand 1938;89:75-84.
3. Kachadurian AK. The inheritance of essential familial hypercholesterolemia. Am J Med 1964;37:402-7.
4. Brown MS, Goldstein JL. Analysis of a mutant strain of human fibroblasts with a defect in the internalization of receptor bound low density lipoprotein. Cell 1976;9:663-74.
5. Russell DW, Yamamoto T, Schneider WJ, Slauther CJ, Brown MS, Goldstein JL. c-DNA cloning of the bovine low density lipoprotein receptor: feedback regulation of a receptor mRNA. Proc Natl Acad Sci USA 1983;80:7501-5.
6. Goldstein IL, Hobbs HH, Brown MS. Familial hypercholesterolaemia. En: Scriver CT, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw Hill 1995; p. 1981-2030.
7. Soria LF, Ludwig EH, Clarke HR, Vega GL, Grundy SM, Mc Carthy BJ. Association between a specific apoprotein B mutation and familial defective apo B 100. Proc. Natl Acad Sci USA 1989; 86:587-91.
8. Rauh G, Keller C, Schuster H, Wolfgram G, Zöllner N. Familial defective apolipoprotein B-100: a common cause of primary hyperlipemia. Clin Invest 1992;70:77-8.
9. Miserez AR, Laager R, Chiodetti N, Keller U. High prevalence of familial defective apolipoprotein B-100 in Switzerland. J Lipid Res 1994;35:574-83.
10. Real JT, Chaves JF, Ascaso JF, Armengod ME, Carmena R. Estudio del defecto familiar de la apo B-100 en sujetos con el diagnóstico clínico de hipercolesterolemia primaria: identificación de la primera familia afectada en España. Med Clin (Barc) 1999; 113:15-7.
11. Castillo S, Tejedor D, Mozas P, Reyes G, Civeira F, Alonso R, et al. The apolipoprotein B R3500Q gene mutation in spanish subjects with a clinical diagnosis of familial hypercholesterolemia. Atherosclerosis 2002;165:127-35.
12. Miserez AR, Keller U. Differences in phenotypic characteristics of subjects with familial defective apolipoprotein B-100 and familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 1995;15:1719-29.
13. Hansen PS, Defesche JC, Kastelein JJP, Gerdes LU, Fraza L, Gerdes C, et al. Phenotypic variation in patients heterozygous for Familial Defective Apolipoprotein B (FDB) in three european countries. Arterioscler Thromb Vasc Biol 1997;17:741-7.
14. Report of familial Hypercholesterolaemia. Geneve: World Health Organisation, 1998.
15. Alonso R, Castillo S, Civeira F, Puzo J, La Cruz JJ, Pocovi M, et al. Heterozygous familial hypercholesterolemia in Spain. Description of 819 non related cases. Med Clin (Barc) 2002;118:487-92.
16. Mata P, Alonso R, Castillo S, Pocovi M. MEDPED and the Spanish familial hypercholesterolemia foundation. Atherosclerosis 2002;2:9-11.
17. Garcés C, Rodríguez Artalejo F, Serrano A, González Bonillo J, Almagro F, Garrido JA, et al. Manifestaciones clínicas de la hipercolesterolemia familiar heterocigota en España. Estudio de 301 casos de las áreas central y norte. Med Clin (Barc) 2000;114:50-1.
18. Myant NB. Familial defective apolipoprotein B-100: a review, including some comparisons with familial hypercholesterolaemia. Atherosclerosis 1993;104:1-18.
19. Brousseau T, Arveiler D, Cambou JP, Evans AE, Luc G, Fruchart JC, et al. Familial defective apolipoprotein B-100 and myocardial infarction. The ECTIM study. Etude Cas-Temoins de l'Infarctus du Myocarde. Atherosclerosis 1995;116:269-71.
20. Ceska R, Vrablik M, Horinek A. Familial defective apolipoprotein B-100: a lesson from homozygous and heterozygous patients. Physiol Res 2000;49 (Suppl 1):125-30.
21. Kalina A, Csaszar A, Czeizel AE, Romics L, Szaboki F, Szalai C, et al. Frequency of the R3500Q mutation of the apolipoprotein B-100 gene in a sample screened clinically for familial hypercholesterolemia in Hungary. Atherosclerosis 2001;154:247-51.
22. Kotze MJ, Peeters AV, Langenhoven E, Wauters JG, Van Gaal LF. Phenotypic expression and frequency of familial defective apolipoprotein B-100 in Belgian hypercholesterolemics. Atherosclerosis 1994;111:217-25.
23. Tybjaerg-Hansen A, Humphries SE. Familial defective apolipoprotein B-100: a single mutation that causes hypercholesterolemia and premature coronary disease. Atherosclerosis 1992;96:91-107.
24. Maher VM, Gallagher JJ, Thompson GR, Myant NB. Does the presence of the 3500 mutant apolipoprotein B-100 in low density lipoprotein particles affect their atherogenicity? Atherosclerosis 1995;118:105-10.
25. Iràculis E, Cequier A, Sabaté M, Pintó X, Gómez-Hospital JA, Mauri J, et al. Mejoría de la función endotelial al reducir las concentraciones lipídicas en pacientes con hipercolesterolemia y arterias coronarias normales. Rev Esp Cardiol 2001;54:685-92.
26. Stalenhoef AF, Defesche JC, Kleinveld HA, Demacker PN, Kastelein JJ. Decreased resistance against in vitro oxidation of LDL from patients with familial defective apolipoprotein B-100. Arterioscler Thromb 1994;14:489-93.
27. Defesche CJ, Pricker LK, Hayden RM, van der Ende EB, Kastelein PJJ. Familial defective apolipoprotein B-100 is clinically indistinguishable from familial hypercholesterolemia. Arch Intern Med 1993;153:2349-56.
28. Marz W, Baumstark MW, Schnarnagl H, Ruzicka V, Buxbaum S, Herwig J, et al. Accumulation of «small dense» low density lipoprotein (LDL) in a homozygous patient with familial defective apolipoprotein B-100 results from heterogeneous interaction of LDL subfractions with the LDL receptor. J Clin Invest 1993;92: 2922-33.
29. Pimstone SN, Defesche JC, Clee SM, Bakker HD, Hayden MR, Kastelein JJP. Differences in the phenotype between children with familial defective apolipoprotein B-100 and familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 1997;17:826-33.