Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004153 (atherosclerosis)
 77,401 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hepatic lipase (HL) deficiency is a rare genetic disorder that has been associated with premature atherosclerosis despite high plasma high-density lipoprotein (HDL) cholesterol concentrations in the affected individuals. The authors describe the clinical and biochemical features of HL deficiency in a young male of Middle-Eastern-Arabic origin. This is the first report of cholesterol ester transfer protein (CETP) activity and mass in HL deficiency in a patient from this ethnic group. While the CETP mass was high, its activity was low, a discrepancy likely due to the abnormal composition of patient's HDL particles.
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PMID:Hepatic lipase deficiency in a Middle-Eastern-Arabic male. 2279 47

Atherosclerosis begins in childhood, and these early lesions are related to cardiovascular risk factors, including non-high-density lipoprotein cholesterol (HDL-C). Genetic disorders of lipid metabolism, principally familial hypercholesterolemia, have a high frequency in the population (about 1:300-1:500), and cause cardiovascular morbidity beginning in the third decade of life. The current obesity epidemic in children has worsened cardiovascular risk status. Cardiovascular risk factors present in youth often track into adulthood and are more predictive of future subclinical atherosclerosis than risk factors measured in young adulthood. Further, modification of risk factors beginning in childhood and young adulthood can lead to restoration to normal or improvement in measures of subclinical atherosclerosis measures both in those with genetic dyslipidemias and those with dyslipidemia secondary to obesity. Prior recommended selective lipid screening strategies based on family history or presence of other cardiovascular risk factors have failed to capture many with genetic dyslipidemia. Medium-term clinical trials of statin therapy for inherited dyslipidemias are safe and effective in lowering low-density lipoprotein cholesterol (LDL-C). Cholesterol screening in childhood is necessary to prevent cardiovascular morbidity in those with genetic dyslipidemias and to increase awareness of the need for behavioral intervention in those with multiple cardiovascular risk factors, often a result of the obesity epidemic.
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PMID:Universal screening of cholesterol in children. 2293 May 27

Hutchinson-Gilford Progeria syndrome (HGPS) is a rare genetic disorder, characterized by several clinical features that begin in early childhood, recalling an accelerated aging process. The diagnosis of HGPS is based on the recognition of common clinical features and detection of the recurrent heterozygous c.1824C>T (p.Gly608Gly) mutation within exon 11 in the Lamin A/C encoding gene (LMNA). Besides "typical HGPS," several "atypical progeria" syndromes (APS) have been described, in a clinical spectrum ranging from mandibuloacral dysplasia to atypical Werner syndrome. These patients's clinical features include progeroid manifestations, such as short stature, prominent nose, premature graying of hair, partial alopecia, skin atrophy, lipodystrophy, skeletal anomalies, such as mandibular hypoplasia and acroosteolyses, and in some cases severe atherosclerosis with metabolic complications. APS are due in several cases to de novo heterozygous LMNA mutations other than the p.Gly608Gly, or due to homozygous BAFN1 mutations in Nestor-Guillermo Progeria syndrome (NGPS). We report here and discuss the observation of a non-consanguineous Moroccan patient presenting with atypical progeria. The molecular studies showed the heterozygous mutation c.412G>A (p.Glu138Lys) of the LMNA gene. This mutation, previously reported as a de novo mutation, was inherited from the apparently healthy father who showed a somatic cell mosaicism.
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PMID:An inherited LMNA gene mutation in atypical Progeria syndrome. 2299 Dec 22

Familial hypercholesterolaemia (FH) is a common genetic disorder affecting more than 8000 children and adolescents throughout Australia. It results in marked elevation in plasma low-density lipoprotein cholesterol levels from birth that predisposes individuals to premature coronary heart disease in adult life. The majority of children and adolescents with FH are undiagnosed, as symptoms and signs only develop after decades of hypercholesterolaemia. Cascade screening of family members after detecting FH in an index case is an effective approach that allows the diagnosis of FH to be made in the young, before significant atherosclerosis develops. With the availability of effective therapies, mainly statins, paediatricians are ideally placed to improve the outcomes of this disorder by detecting and managing hypercholesterolaemia in childhood, thereby preventing premature coronary artery disease. We describe a new paediatric model of care for FH.
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PMID:Familial hypercholesterolaemia in children and adolescents: a new paediatric model of care. 2325 91

Familial hypercholesterolemia is a genetic disorder that leads to severe atherosclerosis related cardiovascular complications in young adults. Extracorporeal elimination is a method of LDL-lowering procedures effective in patients with homozygous or severe heterozygous FH utilized in cases. The recruitment of leucocytes into the arterial intima is dependent on a cascade of events mediated through a diverse family of adhesion molecules. Several pro-inflammatory adhesion molecules are cleared by various lipid apheresis methods. This study showed that, LDL-apheresis led to several changes in circulating inflammatory factors which induced antiinflammatory and antiatherogenic changes in the plasma profile in homozygous familial hypercholesterolemic patients.
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PMID:Apheresis-inducible cytokine pattern change in children with homozygous familial hypercholesterolemia. 2365 65

A case of chylomicronemia syndrome is reported in a 72-year-old male with distinctive features of chronic pancreatic damage, severe hypertriglyceridemia, polidistrectual atherosclerosis and premature cognitive impairment. Although the patient had a positive history for recurrent episodes of pancreatitis the characteristic lesions of the hyperchylomicronemia syndrome, such as eruptive xanthomas and lipemia retinalis, were not present and splenomegaly could not be documented due to a previous post-traumatic splenectomy. Based on clinical phenotype, an apolipoprotein C-II deficiency was excluded by a fresh plasma infusion test, in which clarification of the patient plasma was not obtained. The absence of changes in the lipoprotein electrophoretic plasma after heparin infusion can be secondary to a lipoprotein lipase deficiency, a rare genetic disorder with an incidence of one per million. In relation to the resistance to diet and drugs, plasma exchange therapy was performed. After 3 years of this treatment there was no significant progression of atherosclerosis.
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PMID:Cognitive impairment and polidistrectual atherosclerotic disease in chylomicronemia syndrome: a case report. 2387 65

Hutchinson-Gilford progeria syndrome (HGPS) is a very rare genetic disorder characterized by premature ageing, severe growth failure, and very early onset atherosclerosis. Psychologically and emotionally child-like, these patients suffer from physiological changes of old age. Early and progressive atherosclerosis of intra-cranial vessels in HGPS patients, along with a thin skin and fragile vessels, make these patients susceptible to intra-cranial hematomas following relatively trivial injuries and to severe intra-cranial disease. Anesthetizing HGPS patients for surgery can be challenging due to the presence of a possible difficult airway, multi-system derangements, and associated skin, bone and joint disease. We report here one such child with HGPS who underwent craniotomy and evacuation of an extradural hematoma that developed after minor head trauma. Securing his airway during surgery was difficult.
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PMID:Extradural hematoma surgery in a child with Hutchinson-Gilford progeria syndrome: Perioperative concerns. 2408 42

The recent European Atherosclerosis Society (EAS) guidelines for the management of familial hypercholesterolaemia (FH) succinctly reiterate the under-diagnosis and poor management of this common genetic disorder, which is associated with greatly increased mortality from coronary heart disease (CHD), especially in young people. The prevalence of FH is thought to be between 1/500 and 1/200, and thus in Europe 1.8-4.5 million individuals have FH. In most European countries including the UK, fewer than 15% of cases have been identified to date, amounting to over 100,000 undiagnosed cases in the UK alone. There are a number of issues that have impeded the implementation of FH diagnostic and management guidelines in Europe; here, we briefly review the current situation in the UK, and propose ways to start to break down implementation barriers that may be applicable across Europe. Despite guidelines by the UK National Institute of Health and Clinical Excellence (NICE) published in 2008 that recommend genetic testing of index cases and cascade screening of their family members, and the recent NICE Quality Standards for management of FH (QS41), there has been little action towards systematic diagnosis in England despite implementation of systematic screening programmes in Scotland, Wales, Northern Ireland and in other selected countries in Europe. This is surprising because early treatment with statins provides an effective and cheap treatment that reduces mortality to near that found in the normolipidaemic population. With increasing emphasis on preventive medicine and genetic diagnosis across the medical specialties, FH is a clear example of how new genome technologies can - and should - be deployed now for the benefit of patients.
Atherosclerosis 2013 Dec
PMID:Familial hypercholesterolaemia: a pressing issue for European health care. 2426 31

Familial hypercholesterolemia (FH) is a genetic disorder characterized by a high serum concentration of low-density lipoprotein (LDL) cholesterol. The high LDL cholesterol level leads to an excess deposition of cholesterol in the arterial walls and accelerated atherosclerosis, thereby increasing the risk of premature coronary heart disease. In the present study, we used a DNA microarray approach to identify gene expression profiles that distinguish patients with FH from healthy control subjects. Furthermore, transcription factors (TFs), microRNAs (miRNAs), target genes and pathways were analyzed to explore the potential transcriptional interactions occurring in FH. Publicly available microarray and regulation data were used to construct a regulatory network to identify additional genes related to FH and their interactions. The results revealed that specificity protein 1 (SP1), signal transducer and activator of transcription 1 (STAT1) and spleen focus forming virus (SFFV) proviral integration oncogene spi1 (SPI1) play a central role in the FH regulatory network. In addition, the TF, upstream transcription factor 2, c-fos interacting (USF2) and the gene, Wiskott-Aldrich syndrome (WAS), were identified to be associated with FH, although no reports for these proteins exist in the literature. Overall, transcriptional network analysis proved to be effective approach to identify novel targets for FH therapy.
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PMID:Transcriptome and miRNA network analysis of familial hypercholesterolemia. 2437 67

Marfan syndrome is an autosomal dominant genetic disorder of the connective tissue. The most serious complications of this syndrome are defects of the heart valves and aorta. Aneurysms of thoracic aorta are known to develop in Marfan syndrome. Other causes for development of aneurysms of the thoracic aorta are trauma, infections, valve and arch anomalies, genetic disorders, and atherosclerosis. These aneurysms upon rupture may lead to sudden deaths. They are usually detected during routine screening or follow-up of such persons suffering from Marfan syndrome and upon death will be certified by the treating physician. Thus, an autopsy surgeon rarely comes across such deaths. One such case of sudden death due to cardiac tamponade consequent upon rupture of dissecting aortic aneurysm in a 33-year-old male who complained of throbbing pains in the chest, radiating to back, became breathless, cyanotic and died on the way to hospital is being presented here.
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PMID:Sudden death in Marfan syndrome. 2450 89


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