663 (Op) Atherosclerosis In Fh Patients Depending On Type Of Mutation.

Conference: 
Author(s): 
M. Junyent-Priu, D. Zamb¢n, S. Castillo1, M. Pocov¡1, A. S nchez2, R. Gilabert2, E. Ros
Lipid Clinic, Endocrinology and Nutritional Service,
1Biochemical, Molecular and Cellular Biology Department, Zaragoza University,
2Ultrasound section, Centre de Diagn•stic per l.Imatge, Hospital Clinic, Barcelona, Spain
Text: 
BACKGROUND/AIM.
The type of molecular defect in FH patients can reflect their clinical severity. Classically, LDL-R mutations (MUT) of type 1 (null allele) are associated with a phenotype more severe than other types. Our aim was to assess the relationship between the molecular defect and severity of carotid and femoral atherosclerosis and Achilles Tendon (AT) characteristics in Familial Hypercholesterolaemia (FH) patients.
METHODS:
We studied 127 patients diagnosed of FH by clinical criteria (69M/58W, mean age 48 years). We used the single strand conformation polymorphism method to investigate FH for mutations in the LDL-R gene. The underlying mutations were characterized by DNA sequencing. In addition, we tested for the presence of the mutation R3500Q. We measured atherosclerosis by means of carotid, femoral and AT B-mode ultrasound.
RESULTS:
We detected molecular defect in 81 patients: 31 (38%) were MUT type 1 and 50, class 2-4 (55%) or apoB 3500 (6.7%). Sex and age were similar in both groups. LDL-c in MUT type 1 was higher than in other MUT (PCONCLUSION:
FH patients with MUT type 1 present AT xanthomas more frequently and carotid and femoral atherosclerosis more advanced than other patients with other LDL-R MUT or ApoB 3500. This supports the indication of molecular diagnosis in patients with clinical suspect of FH, in order to certain diagnosis and to adequate the hypolipidemiant treatment to the atherosclerotic risk.
Literature: 
663 (OP) ATHEROSCLEROSIS IN FH PATIENTS DEPENDING ON TYPE OF MUTATION.