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Hipercolesterolemia Familiar

Mafalda Bourbon, Quitéria Rato
INTRODUCTION: Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder caused, in the majority of cases, by a partial or total lack of functional low density lipoprotein receptors (LDLR). Mutations in the LDLR gene lead to increased plasma cholesterol levels, resulting in cholesterol deposition in the arteries, thereby increasing the risk of premature coronary heart disease. The homozygous form of FH is rare but heterozygous FH is common, although underdiagnosed in many populations, including the Portuguese...
November 2006: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
Ignacio García-Alvarez, Sergio Castillo, Pilar Mozas, Diego Tejedor, Gilberto Reyes, Marta Artieda, Ana Cenarro, Rodrigo Alonso, Pedro Mata, Miguel Pocovi, Fernando Civeira
INTRODUCTION AND OBJECTIVES: Familial hypercholesterolemia and familial defective Apo B-100 are phenotypically indistinguishable. At present they can be distinguished by genetic analysis. PATIENTS AND METHODç We compared the clinical features of 13 subjects with familial defective Apo B-100 and 39 subjects with familial hypercholesterolemia. We used data from first degree relatives to compare morbidity and mortality between the two groups. RESULTS: We found statistically significant differences in total cholesterol and LDL cholesterol, which were lower in the familial defective Apo B-100 group (TC = 357 37...
August 2003: Revista Española de Cardiología
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