Genetic Testing For Heterozygous Familial Hypercholesterolemia

Complete Appendix to Guidelines available at http://journals.aace.com. Endocr Pract. Apr 02 2017; 23(4): 479-497. PMID 28156151″>31, Guidance from NICE was also included in the review.32, The quality of the guidelines was assessed using the Appraisal of Guidelines for Research and Evaluation II instrument, with guideline quality ranging from average to good. Most guidelines agreed that genetic testing follows cholesterol testing, physical findings distinctive of FH, and highly suggestive family history of FH. Universal screening for FH was not recommended. This review highlighted the importance of genetic testing for FH in children, because aggressive treatment at an earlier age may prevent premature coronary heart disease.