Autosomal Dominant Hypercholesterolemia: Needs for Early Diagnosis and Cascade Screening in the Tunisian Population
Autosomal dominant hypercholesterolemia (ADH) is characterized by an isolated elevation of plasmatic lowdensity lipoprotein (LDL), which predisposes to premature coronary artery disease (CAD) and early death. ADH is largely due to mutations in the low-density lipoprotein receptor gene (LDLR), the ap...
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| Veröffentlicht in: | Current genomics 2013-03, Vol.14 (1), p.25-32 |
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| creator | Jelassi, Awatef Najah, Mohamed Slimani, Afef Jguirim, Imen Slimane, Mohamed Naceur Varret, Mathilde |
| description | Autosomal dominant hypercholesterolemia (ADH) is characterized by an isolated elevation of plasmatic lowdensity
lipoprotein (LDL), which predisposes to premature coronary artery disease (CAD) and early death. ADH is
largely due to mutations in the low-density lipoprotein receptor gene (LDLR), the apolipoprotein B-100 gene (APOB), or
the proprotein convertase subtilisin/kexin type 9 (PCSK9). Early diagnosis and initiation of treatment can modify the disease
progression and its outcomes. Therefore, cascade screening protocol with a combination of plasmatic lipid measurements
and DNA testing is used to identify relatives of index cases with a clinical diagnosis of ADH. In Tunisia, an attenuated
phenotypic expression of ADH was previously reported, indicating that the establishment of a special screening protocol
is necessary for this population. |
| doi_str_mv | 10.2174/138920213804999200 |
| format | Article |
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lipoprotein (LDL), which predisposes to premature coronary artery disease (CAD) and early death. ADH is
largely due to mutations in the low-density lipoprotein receptor gene (LDLR), the apolipoprotein B-100 gene (APOB), or
the proprotein convertase subtilisin/kexin type 9 (PCSK9). Early diagnosis and initiation of treatment can modify the disease
progression and its outcomes. Therefore, cascade screening protocol with a combination of plasmatic lipid measurements
and DNA testing is used to identify relatives of index cases with a clinical diagnosis of ADH. In Tunisia, an attenuated
phenotypic expression of ADH was previously reported, indicating that the establishment of a special screening protocol
is necessary for this population.</description><identifier>ISSN: 1389-2029</identifier><identifier>EISSN: 1875-5488</identifier><identifier>DOI: 10.2174/138920213804999200</identifier><identifier>PMID: 23997648</identifier><language>eng</language><publisher>United Arab Emirates: Bentham Science Publishers Ltd</publisher><ispartof>Current genomics, 2013-03, Vol.14 (1), p.25-32</ispartof><rights>2013 Bentham Science Publishers 2013</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3580777/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3580777/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,881,27901,27902,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23997648$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Jelassi, Awatef</creatorcontrib><creatorcontrib>Najah, Mohamed</creatorcontrib><creatorcontrib>Slimani, Afef</creatorcontrib><creatorcontrib>Jguirim, Imen</creatorcontrib><creatorcontrib>Slimane, Mohamed Naceur</creatorcontrib><creatorcontrib>Varret, Mathilde</creatorcontrib><title>Autosomal Dominant Hypercholesterolemia: Needs for Early Diagnosis and Cascade Screening in the Tunisian Population</title><title>Current genomics</title><addtitle>CG</addtitle><description>Autosomal dominant hypercholesterolemia (ADH) is characterized by an isolated elevation of plasmatic lowdensity
lipoprotein (LDL), which predisposes to premature coronary artery disease (CAD) and early death. ADH is
largely due to mutations in the low-density lipoprotein receptor gene (LDLR), the apolipoprotein B-100 gene (APOB), or
the proprotein convertase subtilisin/kexin type 9 (PCSK9). Early diagnosis and initiation of treatment can modify the disease
progression and its outcomes. Therefore, cascade screening protocol with a combination of plasmatic lipid measurements
and DNA testing is used to identify relatives of index cases with a clinical diagnosis of ADH. In Tunisia, an attenuated
phenotypic expression of ADH was previously reported, indicating that the establishment of a special screening protocol
is necessary for this population.</description><issn>1389-2029</issn><issn>1875-5488</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><recordid>eNqNkc1u1DAUhSMEoqXwAiyQl2wGHNuZ2CyQqmlLkSpAoqytG-dmYnDsYDsdzZYnx9W0FYgNq3tkf-fo_lTVy5q-YXUr3tZcKkZZKVQoVSR9VB3Xsm1WjZDycdEFWBVCHVXPUvpOKaOypU-rI8aVatdCHlfpdMkhhQkcOQuT9eAzudzPGM0YHKaMsZTJwjvyCbFPZAiRnEN0e3JmYetDsomA78kGkoEeyVcTEb31W2I9ySOS68XbZMGTL2FeHGQb_PPqyQAu4Yu7elJ9uzi_3lyurj5_-Lg5vVp1gqu8knJNe8OajjdD3UnDkHIxcDmwRpgWam6GgfWDKhugpmMDlbyvFTasUwwY5fyken_InZduwt6gzxGcnqOdIO51AKv__vF21Ntwo3kjadu2JeD1XUAMP5eyDT3ZZNA58BiWpGvB1JrThv4HyoUUinIpCsoOqIkhpYjDQ0c11beH1f8etphe_TnLg-X-kgX4dQC6MswIUzIWvcEHcMx51rvdTuMS8QckdGiyNmHSYUa_RFe0z8Wr53HWW_QRNcRsjUNtU_L3TSl9E9wyYRn-9n0pQqcZtqhZw38DWwLSXQ</recordid><startdate>201303</startdate><enddate>201303</enddate><creator>Jelassi, Awatef</creator><creator>Najah, Mohamed</creator><creator>Slimani, Afef</creator><creator>Jguirim, Imen</creator><creator>Slimane, Mohamed Naceur</creator><creator>Varret, Mathilde</creator><general>Bentham Science Publishers Ltd</general><general>Bentham Science Publishers</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>201303</creationdate><title>Autosomal Dominant Hypercholesterolemia: Needs for Early Diagnosis and Cascade Screening in the Tunisian Population</title><author>Jelassi, Awatef ; Najah, Mohamed ; Slimani, Afef ; Jguirim, Imen ; Slimane, Mohamed Naceur ; Varret, Mathilde</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b439t-8860dc25b35f1b8c2e034f38f254c7a13cff2df90210cb2f083d19e52b92a2033</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Jelassi, Awatef</creatorcontrib><creatorcontrib>Najah, Mohamed</creatorcontrib><creatorcontrib>Slimani, Afef</creatorcontrib><creatorcontrib>Jguirim, Imen</creatorcontrib><creatorcontrib>Slimane, Mohamed Naceur</creatorcontrib><creatorcontrib>Varret, Mathilde</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Current genomics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Jelassi, Awatef</au><au>Najah, Mohamed</au><au>Slimani, Afef</au><au>Jguirim, Imen</au><au>Slimane, Mohamed Naceur</au><au>Varret, Mathilde</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Autosomal Dominant Hypercholesterolemia: Needs for Early Diagnosis and Cascade Screening in the Tunisian Population</atitle><jtitle>Current genomics</jtitle><addtitle>CG</addtitle><date>2013-03</date><risdate>2013</risdate><volume>14</volume><issue>1</issue><spage>25</spage><epage>32</epage><pages>25-32</pages><issn>1389-2029</issn><eissn>1875-5488</eissn><abstract>Autosomal dominant hypercholesterolemia (ADH) is characterized by an isolated elevation of plasmatic lowdensity
lipoprotein (LDL), which predisposes to premature coronary artery disease (CAD) and early death. ADH is
largely due to mutations in the low-density lipoprotein receptor gene (LDLR), the apolipoprotein B-100 gene (APOB), or
the proprotein convertase subtilisin/kexin type 9 (PCSK9). Early diagnosis and initiation of treatment can modify the disease
progression and its outcomes. Therefore, cascade screening protocol with a combination of plasmatic lipid measurements
and DNA testing is used to identify relatives of index cases with a clinical diagnosis of ADH. In Tunisia, an attenuated
phenotypic expression of ADH was previously reported, indicating that the establishment of a special screening protocol
is necessary for this population.</abstract><cop>United Arab Emirates</cop><pub>Bentham Science Publishers Ltd</pub><pmid>23997648</pmid><doi>10.2174/138920213804999200</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
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| language | eng |
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| source | Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central |
| title | Autosomal Dominant Hypercholesterolemia: Needs for Early Diagnosis and Cascade Screening in the Tunisian Population |
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