[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].
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.
García-Alvarez
Ignacio
I
Departamentos de Medicina y Psiquiatría. Hospital Universitario Miguel Servet. Zaragoza. España. garalgar@excite.com
Castillo
Sergio
S
Mozas
Pilar
P
Tejedor
Diego
D
Reyes
Gilberto
G
Artieda
Marta
M
Cenarro
Ana
A
Alonso
Rodrigo
R
Mata
Pedro
P
Pocovi
Miguel
M
Civeira
Fernando
F
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*
D053299:Apolipoprotein B-100; D001055:Apolipoproteins B; D011973:Receptors, LDL