Abstract:
BACKGROUND:Familial Hypercholesterolaemia (FH) is an autosomal-dominant genetic disease and represents the most common genetic disorder: heterozygous 1/250 births, homozygous 1/300, 000 births. FH is characterized by high to very high low-density lipoprotein cholesterol (LDL-C), which is the main cause of increased incidence of premature atherosclerotic Cardiovascular Disease (CVD) or aortic stenosis. OBJECTIVE:The aim of the review was to investigate the pathogenesis and the pathophysiology of FH. RESULTS:The most common (60-80%) FH cause is mutations of the LDL Receptor (LDLR) protein (6 classes with a different number of receptors and functionality). Moreover, mutations in apolipoprotein B (APOB) (<5%) and gain-of-function mutations of proprotein convertase subtilisin/kexin type 9 genes (PCSK9) (<1%) contribute to its pathogenesis. An Autosomal Recessive Hypercholesterolaemia (ARH) is another cause, very rare (1/2.500 births), mainly in Sardinia. The remaining patients with a clinical diagnosis of monogenic hypercholesterolaemia do not present any known genetic cause. Since FH is a significant public health problem, early diagnosis and treatment are of utmost importance. Recent studies demonstrated the influence of the LDLR mutation type in the FH phenotype, associating a more severe clinical phenotype and worse advanced CVD in patients with null mutation than those with receptor-defective mutations. This analysis completes the adequate clinical diagnosis. CONCLUSION:Both homozygous and heterozygous FH are related to mutations of LDLR (mainly), APOB, PCSK9, while other rare forms exist. All aberrations lead to the impaired removal of LDL-C from the blood leading to its accumulation and subsequent CVD earlier than in the general population.
journal_name
Curr Pharm Desjournal_title
Current pharmaceutical designauthors
Viigimaa M,Heinsar S,Lovic D,Katsimardou A,Piperidou A,Duishvili Ddoi
10.2174/1381612824666181009105305subject
Has Abstractpub_date
2018-01-01 00:00:00pages
3599-3604issue
31eissn
1381-6128issn
1873-4286pii
CPD-EPUB-93534journal_volume
24pub_type
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journal_title:Current pharmaceutical design
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journal_title:Current pharmaceutical design
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journal_title:Current pharmaceutical design
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journal_title:Current pharmaceutical design
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journal_title:Current pharmaceutical design
pub_type: 杂志文章,评审
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abstract::The plants of the Colchicum family were known during the archaic period in Greece for their deleterious properties. Later on, they were used for the treatment of podagra. The treatment was introduced by the ancient Greek physicians and passed on to the Byzantine and Arabian physicians to endure until nowadays. The fir...
journal_title:Current pharmaceutical design
pub_type: 历史文章,杂志文章,评审
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更新日期:2018-01-01 00:00:00
abstract:PURPOSE:Ultrasound contrast agents involving a therapeutic drug applied during enhanced imaging can be used for targeted therapy. The preparation of contrast agents is a precondition and basis for the use of multifunctional contrast agents in molecular imaging. METHODS:This study uses thin-film hydration-mechanical vi...
journal_title:Current pharmaceutical design
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abstract:BACKGROUND:Radix Stephaniae Tetrandrine (RST), known as FangJi (Pinyin name) in Chinese, is the dried root of Stephania tetrandra S.Moore, and has been prescribed in combination with other herbs to treat cardiovascular diseases and breast cancer in traditional Chinese medicine (TCM) clinical trials. OBJECTIVE:The aim ...
journal_title:Current pharmaceutical design
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更新日期:2020-01-01 00:00:00
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journal_title:Current pharmaceutical design
pub_type: 杂志文章,评审
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更新日期:2008-01-01 00:00:00
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journal_title:Current pharmaceutical design
pub_type: 杂志文章,评审
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abstract::Aquaporins (AQPs) are expressed in physiologically essential tissues and organs in which edema and fluid imbalances are of major concern. Potential roles in brain water homeostasis and edema, angiogenesis, cell migration, development, neuropathological diseases, and cancer suggest that this family of membrane proteins...
journal_title:Current pharmaceutical design
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abstract::The metabolic syndrome (MetS) represents a cluster of medical disorders, such as hyperglycemia, dyslipidemia, hypertension, and abdominal obesity that, when occurring together, increase the risk of developing cardiovascular disease. The role of food and nutrients in the aetiology of chronic diseases has become clearer...
journal_title:Current pharmaceutical design
pub_type: 杂志文章,评审
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journal_title:Current pharmaceutical design
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journal_title:Current pharmaceutical design
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journal_title:Current pharmaceutical design
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更新日期:2019-01-01 00:00:00
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journal_title:Current pharmaceutical design
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journal_title:Current pharmaceutical design
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更新日期:2015-01-01 00:00:00
abstract::The clinical presentation of heart disease is different between men and women and this distinction is pivotal for a correct diagnosis and an adequate treatment. However, the definition of symptoms classically associated with heart disease is mainly based on the characteristics of those reported in men. Chest pain or c...
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