Hipercolesterolemia familiar: experiencia en la Unidad de Lípidos de Álava / Familial hypercholesterolemia: Experience in the Lipid Clinic of Alava

Introducción: La hipercolesterolemia familiar (HF) es el trastorno genético autosómico dominante más frecuentemente asociado a enfermedad cardiovascular (ECV) prematura. Material y métodos: Estudio observacional, retrospectivo, para determinar las características clínicas, los parámetros analíticos y los factores de riesgo cardiovascular de 133 pacientes con diagnóstico genético confirmado de HF en seguimiento en la Unidad de Lípidos de Álava. Resultados: El 8,30% de los pacientes ha presentado ECV (en el 100% de los casos cardiopatía isquémica [CI]). El 40,60% alcanza el objetivo de cLDL: el 45,50% en prevención primaria y el 27,30% en prevención secundaria. El 81,80% de los pacientes con CI son varones. El odds ratio (OR) de presentar CI en los varones frente a las mujeres es 4,97 (1,03-23,93; p = 0,03). El OR de presentar CI en los pacientes con historia familiar de ECV prematura es 6,86 (1,32-35,67; p = 0,02). Encontramos una asociación estadísticamente significativa entre fumar y el riesgo de ECV (p=0,005) y también entre tener diabetes y el riesgo de ECV (p = 0,0001). Si el tratamiento con estatinas se inicia antes de los 40 años, el OR de presentar CI es 6,40 (1,53-26,50; p = 0,009). El tiempo medio desde el diagnóstico hasta el evento en el grupo de exfumadores es 10,80 ± 5,80 años y en el grupo de no fumadores es 17,50 ± 2,50 años (p = 0,01). Conclusiones: En nuestra población de referencia con HF, encontramos un mayor riesgo de presentar un evento cardiovascular en los pacientes varones, con antecedentes familiares de ECV prematura, diabéticos y en los que se ha iniciado el tratamiento hipolipidemiante después de los 40 años de edad

Introduction: Familial hypercholesterolaemia (FH) is the autosomal dominant genetic disorder most frequently associated with premature cardiovascular disease (CVD). Material and methods: A retrospective, observational study was conducted to determine the clinical characteristics, analytical parameters and cardiovascular risk factors of 133 patients with a genetically confirmed diagnosis of FH on follow-up in the Lipid Clinic of Alava. Results: CVD was observed in 8.30% of the patients (ischaemic heart disease in 100% of the cases). The LDL concentration goal was achieved in 40.6% (45.50% in primary prevention and 27.30% in secondary prevention). The large majority (81.80%) of patients with coronary heart disease (CHD) were male. The odds ratio (OR) of males having CHD compared to females is 4.97 (1.03-23.93, P = .03). The OR of developing CHD in patients with a family history of premature CVD is 6.86 (1.32-35.67, P = .02). A statistically significant association was found between smoking and the risk of CVD (P = .005), and also between having diabetes and the risk of CVD (P = 0.0001). If the treatment with statins begins at older than 40 years, the OR of suffering CHD is 6.40 (1.53-26.5) (P = .009). The mean time from diagnosis to the cardiovascular event in the group of ex-smokers is 10.80 ± 5.80 years, and in the non-smoking group it is 17.50 ± 2.50 years (P = .011). Conclusions: In our reference population with FH, it was found that there was an increased risk of suffering a cardiovascular event in male patients, with a family history of premature CVD, diabetics, and in those in whom lipid lowering treatment was started after 40 years of age

Familial hypercholesterolemia: Experience in the Lipid Clinic of Alava. / Hipercolesterolemia familiar: experiencia en la Unidad de Lípidos de Álava.

INTRODUCTION: Familial hypercholesterolaemia (FH) is the autosomal dominant genetic disorder most frequently associated with premature cardiovascular disease (CVD). MATERIAL AND METHODS: A retrospective, observational study was conducted to determine the clinical characteristics, analytical parameters and cardiovascular risk factors of 133 patients with a genetically confirmed diagnosis of FH on follow-up in the Lipid Clinic of Alava. RESULTS: CVD was observed in 8.30% of the patients (ischaemic heart disease in 100% of the cases). The LDL concentration goal was achieved in 40.6% (45.50% in primary prevention and 27.30% in secondary prevention). The large majority (81.80%) of patients with coronary heart disease (CHD) were male. The odds ratio (OR) of males having CHD compared to females is 4.97 (1.03-23.93, P=.03). The OR of developing CHD in patients with a family history of premature CVD is 6.86 (1.32-35.67, P=.02). A statistically significant association was found between smoking and the risk of CVD (P=.005), and also between having diabetes and the risk of CVD (P=0.0001). If the treatment with statins begins at older than 40 years, the OR of suffering CHD is 6.40 (1.53-26.5) (P=.009). The mean time from diagnosis to the cardiovascular event in the group of ex-smokers is 10.80±5.80 years, and in the non-smoking group it is 17.50±2.50 years (P=.011). CONCLUSIONS: In our reference population with FH, it was found that there was an increased risk of suffering a cardiovascular event in male patients, with a family history of premature CVD, diabetics, and in those in whom lipid lowering treatment was started after 40 years of age.

Carcinoma medular de tiroides en un paciente con síndrome de Birt-Hogg-Dubé / Medullary thyroid carcinoma in a patient with Birt-Hogg-Dube syndrome

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