Programa para la detección de hipercolesterolemia familiar en la provincia de Huelva

Abstract

BACKGROUND: Familial Hypercholesterolemia is the most frequent genetic cause of premature coronary disease, associated with significant morbidity and mortality. Most of the cases are undiagnosed and the delay in the diagnosis prevents the correct early treatment to try to change the course of the disease. There are no effective screening strategies at the national level to ensure a correct diagnosis, which constitutes a Public Health problem. OBJECTIVE: To determine the capacity of a centralized laboratory for the diagnosis of Familial Hypercholesterolemia through the creation of a health program for population screening in the province of Huelva. MATERIAL AND METHOD: Active search of patients with primary hypercholesterolemia through the blood tests carried out in the reference laboratories with results of low-density lipoprotein cholesterol greater than 200 mg/dl and assessment in the Lipid Unit of Huelva to identify index cases, with subsequent family cascade screening. RESULTS: 37440 blood tests with lipid profile were examined. The prevalence of severe primary hypercholesterolemia in patients subjected to laboratory lipid profile tests was 1: 195. After screening, 846 individuals were seen in the Lipid Unit, of which they were diagnosed with Familial Hypercholesterolemia according to the criteria of the Dutch Lipid Clinic Network as possible 654 and probable/definitive 192 individuals, which represents 1.74 % and 0.51 %. of the general population examined respectively. CONCLUSIONS: With the results we publish, the centralized laboratory alert diagnostic strategy is effective. Making a first screening from the Laboratory through an alert to the doctor requesting the analysis, together with the opportunistic search for suspected cases and subsequent referral to specialized clinics, could be an efficient national screening program. Awareness and training on Familial Hypercholesterolemia in the different medical areas, and close collaboration with Primary Care physicians is essential for this screening program to be effective.