[The phenotypes of a hypercholesterolemia family with low density lipoprotein receptor exon 13 A606T mutation].
Zhonghua Nei Ke Za Zhi
; 51(9): 680-2, 2012 Sep.
Article
en Zh
| MEDLINE
| ID: mdl-23158915
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.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Fenotipo
/
Receptores de LDL
/
Hiperlipoproteinemia Tipo II
Límite:
Adolescent
/
Adult
/
Aged
/
Aged80
/
Child
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
Zh
Revista:
Zhonghua Nei Ke Za Zhi
Año:
2012
Tipo del documento:
Article
País de afiliación:
China
Pais de publicación:
China