Development of sensitive and specific age- and gender-specific low-density lipoprotein cholesterol cutoffs for diagnosis of first-degree relatives with familial hypercholesterolaemia in cascade testing

Author(s):  
Brian Starr ◽  
S. Gaye Hadfield ◽  
Barbara A. Hutten ◽  
Peter J. Lansberg ◽  
Trond P. Leren ◽  
...  
2013 ◽  
Vol 24 (3) ◽  
pp. 437-441 ◽  
Author(s):  
Avishay Elis ◽  
Rong Zhou ◽  
Evan A. Stein

AbstractBackground:This study evaluated the effectiveness of long-term intensive lipid-lowering therapy in children and adolescents with familial hypercholesterolaemia.Methods:The charts of 89 children and adolescents with heterozygous familial hypercholesterolaemia among ∼1000 patients treated from 1974 to 2008 were reviewed. Familial hypercholesterolaemia was defined as low-density lipoprotein cholesterol level >90th percentile in individuals with a history of familial hypercholesterolaemia.Results:Of the 89 patients, 51% were male; the mean age at diagnosis was 8 ± 4 years, and the mean follow-up was 13 ± 8 years. Baseline and most recent low-density lipoprotein cholesterol levels (mg/dl) under treatment were 250 ± 50 and 142 ± 49, respectively, reduced 43% from baseline (p < 0.0001). At the most recent visit, 39 patients received statin monotherapy, mainly atorvastatin or rosuvastatin, and 50 (56%) patients received combination therapy, mainly vytorin or rosuvastain/ezetimibe, 15 patients were >30 years of age, and none developed symptomatic cardiovascular disease or needed revascularisation.Conclusions:Long-term statin-based therapy can reduce low-density lipoprotein cholesterol levels in most children and adolescents with heterozygous familial hypercholesterolaemia and decrease cardiovascular risk significantly.


2019 ◽  
Author(s):  
Nasheeta Peer ◽  
Carl Lombard ◽  
Krisela Steyn ◽  
Naomi Levitt

Abstract Background The use of waist-to-height ratio has been suggested as a better proxy indicator of central obesity. Objective To compare the utility of waist-to-height ratio with commonly used adiposity indices of body mass index, waist circumference and waist-to-hip ratio to identify cardio-metabolic diseases in 25-74-year-old black residents of Cape Town. Methods This cross-sectional study, stratified for age and gender, determined cardio-metabolic abnormalities by administered questionnaires, clinical measurements and biochemical analyses, including oral glucose tolerance tests. Correlations between adiposity indices with cardio-metabolic components were examined. Age- and gender-adjusted logistic regression analyses determined the associations of obesity by these adiposity indices with cardio-metabolic abnormalities. Results The study comprised 392 men and 707 women. Compared with other adiposity indices, waist-to-height ratio in men correlated most closely with fasting (0.360) and 2-hour (0.388) glucose levels, total cholesterol (0.267), low-density lipoprotein cholesterol (0.351) and triglycerides (0.400). In women, waist-to-height ratio correlated the best with systolic blood pressure (0.254) and diastolic blood pressure (0.287). Of the adiposity indices, waist circumference was most strongly associated with diabetes (odds ratio 4.27, 95% confidence interval: 2.39–7.62), low high-density lipoprotein cholesterol (2.84, 1.90–4.26) and hypertriglyceridaemia (3.60, 2.03–6.40), whereas raised waist-to-height ratio was most closely related to hypertension (1.61, 1.07–2.42), hypercholesterolaemia (1.72, 1.04–2.83) and raised low-density lipoprotein cholesterol (2.46, 1.70–3.55). Conclusions Compared with other adiposity indices, the better correlation of waist-to-height ratio with many cardio-metabolic components, particularly in men, and the stronger association of raised waist-to-height ratio with hypertension, hypercholesterolaemia and raised low-density lipoprotein cholesterol support the utility of waist-to-height ratio in routine assessments of adiposity in this population, which may improve the identification of cardio-metabolic risk.


2019 ◽  
Vol 27 (15) ◽  
pp. 1630-1636 ◽  
Author(s):  
Dirk De Bacquer ◽  
Delphine De Smedt ◽  
Željko Reiner ◽  
Lale Tokgözoğlu ◽  
Els Clays ◽  
...  

Aims Recent European guidelines recommend in patients with atherosclerotic cardiovascular disease to achieve a reduction of low-density lipoprotein-cholesterol of at least 50% if the baseline low-density lipoprotein-cholesterol level is between 1.8 and 3.5 mmol/L. Systematic reviews have associated a given statin/dose combination with a fixed percentage low-density lipoprotein-cholesterol response. Algorithms for detecting cases and estimating the prevalence of familial hypercholesterolaemia often rely on such fixed percentage reductions. Methods and results We used data from 915 coronary patients participating in the EUROASPIRE V study in whom atorvastatin or rosuvastatin therapy was initiated at hospital discharge and who were still using these drugs at the same dose at a follow-up visit 6 or more months later. Pre and on-treatment low-density lipoprotein-cholesterol levels were compared across the full low-density lipoprotein-cholesterol range. The prevalence of FH was estimated using the Dutch Lipid Clinic Network criteria, once using observed pre-treatment low-density lipoprotein-cholesterol and once using imputed pre-treatment low-density lipoprotein-cholesterol by following the common strategy of applying fixed correction factors to on-treatment low-density lipoprotein-cholesterol. Inter-individual variation in the low-density lipoprotein-cholesterol response to a fixed statin and dose was considerable, with a strong inverse relation of percentage reductions to pre-treatment low-density lipoprotein-cholesterol. The percentage low-density lipoprotein-cholesterol response was markedly lower at the left end of the pre-treatment low-density lipoprotein-cholesterol range especially for levels less than 3 mmol/L. The estimated prevalence of familial hypercholesterolaemia was 2% if using observed pre-treatment low-density lipoprotein-cholesterol and 10% when using imputed low-density lipoprotein-cholesterol. Conclusion The inter-individual variation in the percentage low-density lipoprotein-cholesterol response to a given dose of a statin is largely dependent on the pre-treatment level: the lower the pre-treatment low-density lipoprotein-cholesterol level the smaller the percentage low-density lipoprotein-cholesterol reduction. The use of uniform correction factors to estimate pre-treatment low-density lipoprotein-cholesterol is not justified.


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