[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].

Abstract

INTRODUCTION AND OBJECTIVES:

Familial hypercholesterolemia and familial defective Apo B-100 are phenotypically indistinguishable. At present they can be distinguished by genetic analysis. PATIENTS AND METHODç 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.

• Authors: Ignacio García-Alvarez, Sergio Castillo, Pilar Mozas, Diego Tejedor, Gilberto Reyes, Marta Artieda, Ana Cenarro, Rodrigo Alonso, Pedro Mata, Miguel Pocovi, Fernando Civeira, Grupo de Estudio de la Hipercolesterolemia Familiar
• Journal: Revista espanola de cardiologia (Rev Esp Cardiol) Vol. 56 Issue 8 Pg. 769-74 (Aug 2003) ISSN: 0300-8932 [Print] Spain
• Vernacular Title: Diferencias 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.
• PMID: 12892621 (Publication Type: Comparative Study, English Abstract, Journal Article)

Chemical References

• Apolipoprotein B-100
• Apolipoproteins B
• Receptors, LDL

Topics

• Apolipoprotein B-100
• Apolipoproteins B (genetics)
• Cardiovascular Diseases (epidemiology, etiology)
• Humans
• Hyperlipoproteinemia Type II (blood, complications, genetics)
• Incidence
• Middle Aged
• Phenotype
• Receptors, LDL (genetics)