LDL apheresis in a homozygous familial hypercholesterolemic child aged 4.5.

Preliminary experience with the efficacy and safety of dextran sulfate cellulose low-density lipoprotein (LDL) apheresis for the treatment of a 4.5-year-old girl with homozygous familial hypercholesterolemia and coronary artery disease is reported. The decrease of the most atherogenic apolipoprotein B-containing lipoproteins, low-density lipoprotein (LDL) and lipoprotein(a) (Lp [a]), were in the ranges of 63.1-68.7%, and 52.5-58.6%, respectively. The child tolerated LDL apheresis without any clinically significant complications. Therefore, she was submitted to a long-term program of treatment at intervals of 15 days. The experience suggests the possibility of an early beginning of extracorp…

Efficacy of oral pancreatic enzyme therapy for the treatment of fat malabsorption in HIV-infected patients

Effectiveness of screening for known mutations in Sicilian patients with "probable" familial hypercholesterolemia.

Background and Aim: More than 750 mutations in the low-density lipoprotein (LDL) receptor gene are currently known to cause familial hypercholesterolemia (FH), but the array of mutations varies considerably in different populations. The definition of essentially all the LDL receptor gene mutations in a population is therefore a prerequisite for the implementation of nation-wide genetic testing for FH. Methods and Results: In this study, a screening strategy based on PCR-enzymatic digestion and PCR-allele specific hybridisation procedures was used to evaluate the frequency distributions of 11 known mutations in a cohort of 214 unrelated subjects meeting the diagnostic criteria of "probable" …

We-P11:264 Use of stents with sirolimus is significantly associated with a reduction in mortality and cardiovascular morbidity at 6- and 12-months post-PTCA

Carotid atherosclerosis in hypercholesterolemic patients: Relationship with cardiovascular events

Background and Aim: Extracranial cerebrovascular atherosclerosis is a common feature of hypercholesterolemia and carotid lesions are good predictors of cardiovascular events in the general population. Factors associated with the carotid damage of hypercholesterolemic patients and their relationships with the occurrence of clinical events are investigated in this study. Methods and Results: One hundred and seventeen cardiovascular event-free hypercholesterolemic subjects underwent a complete clinical examination to look for additional risk factors. A blood sample was collected for lipoprotein determination and an ultrasound high resolution B-mode imaging examination of the common carotid art…

Distribution of risk factors, plasma lipids, lipoproteins and dyslipidemias in a small Mediterranean island: The Ustica Project

Background and Aim: The populations of the Mediterranean area have a low incidence of cardiovascular disease (CHD). The aims of this paper are: 1) to present demographic data of the population of Ustica, a small island in the southern part of the Tyrrhenian sea that has reduced communications with the mainland and a diet presumably rich in fish; and 2) to evaluate the distribution of risk fa tors, plasma lipids, lipoproteins and dyslipidemias in this population. Methods and Results: We invited all of the free-living resident population aged more than 14 years (about 800 individuals) to participate in the study; 57 responded, for a participation rate of about 73%. The distribution of cardiov…

FAMILIAL HYPOALPHALIPOPROTEINEMIA ASSOCIATED TO CORNEAL OPACITIES IN ABSENCE OF LCAT DEFICIENCY