Cascade screening program for familial hypercholesterolemia

• Published in: Endocrinología, diabetes y nutrición. Vol. 65; no. 5; pp. 280 - 286
• Main Authors: Rubio-Marín, Patricia, Michán-Doña, Alfredo, Maraver-Delgado, Juan, Arroyo-Olivares, Raquel, Barrado Varea, Rosalía, Pérez de Isla, Leopoldo, Mata, Pedro
• Format: Journal Article
• Language: English
• Published: Elsevier España, S.L.U 01.05.2018
• Subjects: Aterosclerosis; Atherosclerosis; Cardiovascular disease; Cascade screening; Cribado en cascada; Detección genética; Endocrinology and Metabolism; Enfermedad cardiovascular; Familial hypercholesterolemia; Genetic testing; Hipercolesterolemia familiar; Detección genética; Aterosclerosis; Cribado en cascada; Atherosclerosis; Hipercolesterolemia familiar; Cardiovascular disease; Familial hypercholesterolemia; Genetic testing; Cascade screening; Enfermedad cardiovascular
• ISSN: 2530-0180; 2530-0180
• DOI: 10.1016/j.endien.2018.05.003

Abstract Introduction and objective Early detection of heterozygous familial hypercholesterolemia (HFH) is needed to prevent premature cardiovascular events. Our aim is to describe the course of an HFH screening detection day in the Northern Cadiz Health Area in Spain and to analyze the data recorded. Subjects and methods Descriptive study of an FH cascade screening program. Index cases (ICs) and their 1st and 2nd grade relatives were appointed during a weekend by the FH Foundation. Venous blood samples were taken from the subjects for genetic, blood, and chemistry tests; specialized medical consultation and physical examination were performed. Results The study sample consisted of 132 subjects: 21 ICs and 111 relatives (16 under 18 years old), with a mean age of 11.4 years (SD 4.57). Mean age of subjects over 18 years was 45.2 years. A gene mutation was found in 90 relatives. Mean age at diagnosis was 25 years (SD 17.7) for relatives and for 36.4 years (SD 17.2; p = .01) for ICs. Smoking rate was higher in relatives than in ICs (26.3% vs 4.8%; p = .02) and corneal arcus was more common in ICs as compared to relatives (47.6% vs 12.6%; p < .001). Prior myocardial infarction was recorded in 14.3% of ICs and 4.2% of relatives respectively ( p = .07). Maximum lipid lowering treatment was being administered to 43.1%. Conclusions The screening detection approach identified the estimated 4% population with HFH in the area, and allows for diagnosing HFH 11.4 years earlier.