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2011, Number 5

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Gac Med Mex 2011; 147 (5)

Familial homozygous hypercholesterolemia due to the c2271delT mutation in the LDL receptor gene, detected exclusively in mexicans

Martínez L, Ordóñez SML, Letona R, Olvera SV, Guerra MM, Tusié-Luna MT, Aguilar-Salinas CA

Language: Spanish
References: 17
Page: 394-398
PDF size: 76.14 Kb.


ABSTRACT

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.


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