BACKGROUND The relative contribution of mutations in the presenilin (PSEN) and amyloid precursor protein genes to autosomal dominant and other early-onset Alzheimer disease (AD) cases is not well established. OBJECTIVES To clarify the respective contribution of the amyloid precursor protein and PSEN mutations to autosomal dominant AD and to determine its contribution to sporadic and familial ...

Apolipoproteins B and E were determined in 40 patients with type III hyperlipoproteinaemia (familial dysbetalipoproteinaemia) and in 48 patients with other types of hyperlipoproteinaemia matched for cholesterol and triacylglycerols. In type III patients, apolipoprotein E was increased and apolipoprotein B was lower than in other types of hyperlipoproteinaemia. The apolipoprotein E to apolipopro...

To the Editor: The report by Blesa et al. (1 ) compares 2 methods, DNA sequencing and DNA arrays [as previously reported by us (2 )], for the genetic diagnosis of familial hypercholesterolemia (FH). Lipochip (Lacer SA), the first DNA array-based commercial platform for the genetic diagnosis of FH, is now available and is funded by the Spanish Health Service. The procedure is as follows: blood s...

Apheresis only partially controls raised low density lipoprotein cholesterol levels in patients with homozygous familial hypercholesterolemia, who usually respond poorly to lipid-lowering drugs. The efficacy and mechanism of action of a new 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitor, atorvastatin, was therefore investigated in seven homozygotes undergoing apheresis. One receptor-...

Familial dyslipidemic hypertension (FDH) Is a syndrome recently described from sibshlps selected for early familial hypertension and found to have one or more of three fasting llpld abnormalities [high trlglycerldes, low high density lipoprotein (HDL) cholesterol, high low density lipoprotein (LDL) cholesterol]. In further analyses of these same 131 hypertensive subjects, apolipoprotein A-l and...

Familial dyslipidemic hypertension (FDH) is a syndrome recently described from sibships selected for early familial hypertension and found to have one or more of three fasting lipid abnormalities [high triglycerides, low high density lipoprotein (HDL) cholesterol, high low density lipoprotein (LDL) cholesterol]. In further analyses of these same 131 hypertensive subjects, apolipoprotein A-I and...

Familial chylomicronemia syndrome is a rare disorder of lipoprotein metabolism due to familial lipoprotein lipase or apolipoprotein C-II deficiency or the presence of inhibitors to lipoprotein lipase. It manifests as eruptive xanthomas, acute pancreatitis, and lipaemic plasma due to marked elevation of triglyceride and chylomicrons levels. We report a rare case of familial chylomicronemia in a ...

BACKGROUND AND AIMS Familial hypercholesterolemia (FH) is an autosomal dominant disease of cholesterol metabolism that confers an increased risk of premature atherosclerotic cardiovascular disease (ASCVD). Therefore, early identification and treatment of these patients can improve prognosis and reduce the burden of cardiovascular mortality. The aim of this work was to perform the mutational ana...