Clinical and serum lipid profiles and LDLR genetic analysis of xanthelasma palpebrarum with nonfamilial hypercholesterolemia.

BACKGROUND

XP is a flat xanthoma that usually presents as bilateral, symmetrical, soft, yellowish papules over the eyelids. The etiology of XP is unknown, but it may be related to complex heterozygous mutations.

AIMS: To investigate the lipid profiles, important clinical characteristics, and low-density lipoprotein receptor (LDLR) gene mutation in the patients suffering from xanthelasma palpebrarum (XP) with nonfamilial hypercholesterolemia.

PATIENTS/

METHODS

The prospective study included 25 individuals of XP with nonfamilial hypercholesterolemia, and 30 controls neither with XP nor familial hypercholesterolemia (FH). Each one underwent detailed clinical examination, serum lipid profile, and LDLR gene detection at the 400th exon and the 1246th exon.

RESULTS

In our study, patients with XP were often not present with FH and family history. The mean serum cholesterol (CHOL) (5.20 ± 1.82) and the prevalence of carotid atherosclerosis (4.34 ± 0.78) were significantly higher in study group, while there was no statistically significant difference between two groups in terms of triglyceride (TG) (P = .38) and low-density lipoprotein (LDL) (P = .23). Unusually, the mean levels of high-density lipoprotein (HDL) (1.59 ± 0.31) in the study group were much higher than the controls (1.31 ± 0.30), and the LDLR gene mutation was not found.

CONCLUSION

Clinical and serum lipid profiles indicated that XP was sporadic and underlying lipid abnormalities especially higher HDL. XP did not occur with mutations in the LDLR gene at the two exons. We suggested too high HDL level may be contributed to pathogenesis of XP and XP is often not associated with FH.