title: [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: OBJECTIVE
  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.affiliation: Departamentos de Medicina y Psiquiatría. Hospital Universitario Miguel Servet. Zaragoza. España. garalgar@excite.com
authors.forename: Ignacio
authors.initials: I
authors.lastname: García-Alvarez
authors.forename: Sergio
authors.initials: S
authors.lastname: Castillo
authors.forename: Pilar
authors.initials: P
authors.lastname: Mozas
authors.forename: Diego
authors.initials: D
authors.lastname: Tejedor
authors.forename: Gilberto
authors.initials: G
authors.lastname: Reyes
authors.forename: Marta
authors.initials: M
authors.lastname: Artieda
authors.forename: Ana
authors.initials: A
authors.lastname: Cenarro
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Alonso
authors.forename: Pedro
authors.initials: P
authors.lastname: Mata
authors.forename: Miguel
authors.initials: M
authors.lastname: Pocovi
authors.forename: Fernando
authors.initials: F
authors.lastname: Civeira
mesh_terms: D053299:Apolipoprotein B-100; D001055:Apolipoproteins B / Q000235:genetics*; D002318:Cardiovascular Diseases / Q000453:epidemiology / Q000209:etiology; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000150:complications / Q000235:genetics*; D015994:Incidence; D008875:Middle Aged; D010641:Phenotype; D011973:Receptors, LDL / Q000235:genetics*
chemical_list: D053299:Apolipoprotein B-100; D001055:Apolipoproteins B; D011973:Receptors, LDL