[The phenotypes of a hypercholesterolemia family with low density lipoprotein receptor exon 13 A606T mutation].

OBJECTIVE

To investigate the clinical phenotypes of familial hypercholesterolemia (FH) caused by exon 13 A606T mutation in low density lipoprotein receptor.

METHODS

Clinical data of the suffered family were collected and analyzed, as well as measurement of perivascular intima-medial thickness and follow-mediated-dilation function by ultrasonography.

RESULTS

There were totally 11 sufferers including 4 males and 9 females, aged 8-90 years, with 2 homozygotes and 9 heterozygotes. Among them, one homozygote showed angina pectoris and hematuria, both homozygotes had skin xanthomata. TC, TG, LDL-C and HDL-C were (7.39 ± 1.30) mmol/L, (0.93 ± 0.36) mmol/L, (11.76 ± 1.10) mmol/L and (1.22 ± 0.17) mmol/L, respectively. The left/right sided intima-medial thickness of the common, internal, external and bulb carotid artery were (1.15 ± 0.45) mm/(1.30 ± 0.60) mm, (0.82 ± 0.30) mm/(1.00 ± 0.66) mm, (0.77 ± 0.28) mm/(0.78 ± 0.30) mm and (1.40 ± 0.59) mm/(1.46 ± 0.71) mm respectively. The brachial artery flow mediated dilation rate was (4.85 ± 4.80)%. Echocardiography revealed 2 patients with cardiac valvular disease and 3 with atrium septum aneurysm.

CONCLUSION

FH patients show a variety of phenotypes including extraordinary hypercholesterolemia, subcutaneous xanthomata and premature coronary heart disease.