Genetic screening for familial hypercholesterolaemia
Australian Safety and Efficacy Register of New Interventional Procedures - Surgical (ASERNIP-S)
Record ID 32010001686
English
Authors' recommendations:
In conclusion, genetic screening for FH appears to be effective in increasing the proportion of FH patients receiving adequate medical treatment; therefore resulting in significant reductions of LDL-C and cholesterol levels which should translate to lower incidences of coronary heart disease (Umans-Eckenhausen et al. 2001, Umans-Eckenhausen et al. 2003, Leren et al. 2004). However, the ability of current genetic testing techniques to identify mutations within the LDLR gene is somewhat of a concern, especially when utilised to identify index cases. It may be prudent to utilise clinical diagnosis to identify potential index cases; followed by genetic testing to identify the exact mutation causing the FH phenotype. When genetic testing is utilised for cascade screening of relatives, the results are highly encouraging (Umans-Eckenhausen et al. 2003, Leren et al. 2004). In the context of the Australian and New Zealand healthcare system, the fact that there is no national screening program for FH is disconcerting considering the fact that FH is relatively common and can be effectively treated when early diagnosis is made. Regardless of whether clinical diagnosis methods or molecular genetic methods are utilised, some form of national screening initiative would be beneficial in both countries as there is now a national guideline for management of the condition (Sullivan 2007).
Details
Project Status:
Completed
Year Published:
2007
English language abstract:
An English language summary is available
Publication Type:
Not Assigned
Country:
Australia
MeSH Terms
- Hypercholesterolemia
Contact
Organisation Name:
Australian Safety and Efficacy Register of New Interventional Procedures-Surgical
Contact Address:
ASERNIP-S 24 King William Street, Kent Town SA 5067 Australia Tel: +61 8 8219 0900
Contact Name:
racs.asernip@surgeons.org
Contact Email:
racs.asernip@surgeons.org
Copyright:
Australian Safety and Efficacy Register of New Interventional Procedures - Surgical (ASERNIP-S)
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