title: [The phenotypes of a hypercholesterolemia family with low density lipoprotein receptor exon 13 A606T mutation].
abstract: 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.
  
  
  CONCLUSIONS
  FH patients show a variety of phenotypes including extraordinary hypercholesterolemia, subcutaneous xanthomata and premature coronary heart disease.
authors.affiliation: Zhongnan Hospital of Wuhan University, Wuhan, China. xycheng@whu.edu.cn
authors.forename: Xin-yao
authors.initials: XY
authors.lastname: Cheng
authors.forename: Xiao-huan
authors.initials: XH
authors.lastname: Cheng
authors.forename: Yin
authors.initials: Y
authors.lastname: Zhang
authors.forename: Fang
authors.initials: F
authors.lastname: Zheng
authors.forename: Ai-li
authors.initials: AL
authors.lastname: Wang
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D005091:Exons; D005260:Female; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011973:Receptors, LDL / Q000235:genetics*; D055815:Young Adult
chemical_list: D011973:Receptors, LDL