| Autor: |
Martínez L; Hospital Regional de Alta Especialidad de Oaxaca, Oaxaca, Oax., Ordóñez Sánchez ML, Letona R, Olvera Sumano V, Guerra MM, Tusié-Luna MT, Aguilar-Salinas CA |
| Jazyk: |
Spanish; Castilian |
| Zdroj: |
Gaceta medica de Mexico [Gac Med Mex] 2011 Sep-Oct; Vol. 147 (5), pp. 394-8. |
| Abstrakt: |
We present the case of an 18-years old women with homozygous familial hypercholesterolemia in which a LDL receptor mutation (c2271delT) was found. This mutation has been informed only in Mexicans. The patient was born in Oaxaca, Mexico. She has atypical location of tendinous and tuberous xanthomata, coronary atherosclerosis and multiple valve involvement. The response to ezetimibe/high dose statin therapy was poor. This case is an example of the occurrence of homozygous forms of familial hypercholesterolemia in genetically isolated populations of Mexico. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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