Revista Española de Cardiología (English Edition) Revista Española de Cardiología (English Edition)
Rev Esp Cardiol. 2003;56:769-74 - Vol. 56 Num.08

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

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

a Departamentos de Medicina y Psiquiatría. Hospital Universitario Miguel Servet. Zaragoza. Spain.
b Departamentos de Bioquímica, Biología Molecular y Celular de la Universidad de Zaragoza. Zaragoza. Spain.
c Unidad de Lípidos. Fundación Jiménez Díaz. Madrid. Spain.

Keywords

Hypercholesterolemia. Low density lipoproteins. Genetics.

Abstract

Introduction and objectives. Familial hypercholesterolemia and familial defective Apo B-100 are phenotypically indistinguishable. At present they can be distinguished by genetic analysis. Patientes and method. We compared the clinical features of 13 subjects with familial defective Apo B-100 and 39 subjects with familial hypercholesterolemia. We used data from first degree relatives to compare morbidity and mortality between the two groups. Results. We found statistically significant differences in total cholesterol and LDL cholesterol, which were lower in the familial defective Apo B-100 group (TC = 357 ± 37.3 mg/dl vs 415 ± 79.7 mg/dl and LDLc = 270 ± 34.2 mg/dl vs 355 ± 72.4 mg/dl). We found no differences in xanthomas, corneal arcus, smoking status, vascular events, blood pressure, BMI or waist/hip ratio. There were no differences between the two groups in the proportions of patients with cardiovascular disease or patients who died. We found statistically significant differences between the groups (p = 0.023) in the mean age at first vascular event (familial hypercholesterolemia and first degree relatives: 45.3 ± 19.9 years; familial defective Apo B-100 and first degree relatives: 51.5 ± 20.8 years) Conclusions. We conclude that familial defective Apo B-100 results in clinically milder hypercholesterolemia than familial hypercholesterolemia, and that discerning between them could be helpful to stratify the risk in persons with hereditary hypercholesterolemia.

1885-5857/© 2003 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved

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