The main aim of the Portuguese Familial Hypercholesterolaemia Study is to identify the genetic cause of hypercholesterolaemia in individuals with a clinical diagnosis of Familial Hypercholesterolaemia (FH). A total of 1340 blood samples were collected from 482 index patients and 858 relatives with the collaboration of clinicians from several hospitals all over the country. The genetic diagnosis...

Autosomal dominant familial hypercholesterolaemia (FH) is the most common inherited disorder known to cause premature coronary heart disease in people of European descent. The estimated prevalence of FH is 1 in 500, and heterozygous FH carries a high risk of premature coronary disease if left untreated (.50% risk in men by the age of 50 and .30% in women by 60 years). However, the condition is ...

Growing attention is now being given to the possible preventive/alternative ways to avoid illness onset. Changes in lifestyle and food habits are taking over from the conventional pharmaceutical-based approach, especially for chronic pathologies. Nutraceuticals have been proposed as key tools for the prevention and cure of some pathological conditions. This is leading research to develop new fo...

A young male presented with multiple xanthomas and xanthelesmas, progressive breathlessness and angina on exertion. Investigations confirmed diagnosis of familial hypercholesterolaemia, bicuspid aortic valve with severe aortic stenosis and significant obstructive coronary artery disease.

AIM Hyperhomocysteinaemia and the metabolic syndrome are associated with increased cardiovascular risk. We investigated whether there is a link between the metabolic syndrome or its components and homocysteine levels in a population without cardiovascular disease. METHODS From the population sample of 382 participants (286 females and 96 males) we isolated those reflecting the metabolic syndr...

We report on a 50-year-old woman who presented with hypertension. She was given simvastatin for hypercholesterolaemia. The creatine kinase level was 3180 U/L at the 3-month follow-up visit, which was thought to be due to simvastatin treatment. Although treatment was discontinued, the creatine kinase level 4 months later remained higher than 3000 U/L. Echocardiography revealed mild pericardial e...

OBJECTIVE To compare the frequency of valvar and supravalvar aortic stenosis in homozygous and heterozygous familial hypercholesterolaemia (FH). DESIGN Analysis of life time cholesterol exposure and prevalence of aortic atherosclerosis in 84 consecutive cases attending a lipid clinic. SETTING A tertiary referral centre in London. PATIENTS Outpatients with FH (six homozygous, 78 heterozygo...

BACKGROUND Our discovery in 2003 of the first mutations of PCSK9 gene causing autosomal dominant hypercholesterolaemia (ADH) shed light on an unknown factor that strongly influences the level of circulating low density lipoprotein cholesterol (LDL-C). PCSK9 gain of function mutations cause hypercholesterolaemia by a reduction of LDL receptor levels, while PCSK9 loss of function variants are ass...

OBJECTIVE To evaluate the effects of feedback reports combined with outreach visits from trained non-physicians on the clinical decision making of general practitioners (GPs) in cardiovascular care. DESIGN Pragmatic cluster controlled trial with randomisation of practices to support (intervention group) or no special attention (control group); analysis after 2 years. SETTING 124 general pra...

The presence of asteroid bodies in the vitreous, designated asteroid hyalopathy by Rodman, Johnson, and Zimmerman (i 96 I), is an interesting but rare condition of obscure aetiology. In spite of the presence of these vitreous opacities, there is hardly any deterioration in the acuity of vision, hence the paucity of available pathological material for study and analysis. Many diseases have been ...