Detection of Familial Hypercholesterolemia through centralized analytical data. HF HUELVA DETECTA Program.

BACKGROUND: Familial Hypercholesterolemia is the most frequent genetic cause of premature coronary heart disease. The delay in the diagnosis prevents the correct early treatment. There are no effective screening strategies at the national level that ensure a correct diagnosis. 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. 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: 37,440 laboratory tests with lipid profile were examined. After screening, 846 individuals were seen in the Lipid Unit, of which they were diagnosed according to criteria of the Dutch Lipid Clinic Network as possible 654 and probable/definitive 192 individuals, representing 1.74% and 0.51% of the general population examined respectively. CONCLUSIONS: The point prevalence of Familial Hypercholesterolemia in patients submitted to laboratory lipid profile tests was 1:195, higher compared to the prevalence of Familial Hypercholesterolemia in the general population (based on 1 in 200-300). The opportunistic search strategy of the index case through a laboratory alert and centralized screening is an efficient strategy to implement a national screening for the diagnosis of Familial Hypercholesterolemia.

Determinants of Quality of Life after Stroke in Southern Portugal: A Cross Sectional Community-Based Study.

INTRODUCTION: the perception of Quality of Life (QoL) has been used to evaluate the treatment and evolution of several pathologies. QoL evaluation allows a better understanding of the patient and his adaptation to the disease. An observational, community-based and descriptive correlational study was carried out to analyze stroke survivors' perception of QoL. METHODS: consecutive case-series of stroke survivors (≥3 months) followed in a single public primary health center ("Tavira Primary Health Centre") from Algarve, southern Portugal. The Portuguese version of the World Health Organization Quality of life instrument was administered in 102 stroke survivors. RESULTS: Perception of QoL was associated (p < 0.05) with specific sociodemographic (age, sex, marital status, academic training), economic (monthly family income) and clinical factors (number of vascular risk factors, type of stroke, evolution, chronic mRankin score). On multivariate analysis, chronic mRankin score on physical (R2 = 0.406; F = 8.757; p < 0.001), psychological (R2 = 0.286; F = 5.536; p < 0.001) and general domain (R2 = 0.357; F = 7.287; p < 0.001); and family income (R2 = 0.160; F = 3.156; p < 0.005) on environmental domain, emerged as predictors of QoL. CONCLUSION: Different socio-demographic, economic and health factors are associated with post-stroke QoL. Description of QoL contributes to the overall evaluation of the impact of stroke on health and should be a priority for health professionals.