Bamimore Mary Aderayo, Zaid Ahmed, Banerjee Yajnavalka, Al-Sarraf Ahmad, Abifadel Marianne, Seidah Nabil G, Al-Waili Khalid, Al-Rasadi Khalid, Awan Zuhier
Department of Clinical Biochemistry, King Abdulaziz University, Abdullah Sulayman, Jeddah, Saudi Arabia.
Department of Biochemistry, Tripoli University, Tripoli, Libya.
J Clin Lipidol. 2015 Mar-Apr;9(2):187-94. doi: 10.1016/j.jacl.2014.11.008. Epub 2014 Nov 29.
Familial hypercholesterolemia (FH) is a well-understood Mendelian disorder that increases the risk of cardiovascular disease (CVD), a leading cause of mortality in Middle Eastern and North African (MENA) countries.
Review the reporting status of FH mutations across MENA and propose a systemic and strategic method for building a MENA FH registry.
Systematic literature search for statistics pertaining to CVD and comparison of number of FH mutations reported in MENA countries and countries with established FH registries.
Only 57 mutations were reported in 17 MENA countries, whereas more than 500 mutations reported in 3 Western countries. Mortality rates due to CVD were significantly higher in MENA countries compared with Western countries.
The relatively low reporting of FH mutations in the consanguineous MENA communities with higher prevalence of CVD indicates poor awareness of CVD genetic risk and warrants a registry to prevent premature CVD due to FH. This registry will help in identifying novel and reported FH mutations, all of which will have clinical and research benefits in MENA countries.
家族性高胆固醇血症（FH）是一种已被充分了解的孟德尔疾病，它会增加心血管疾病（CVD）的风险，而心血管疾病是中东和北非（MENA）国家主要的死亡原因。
回顾中东和北非地区FH突变的报告现状，并提出建立中东和北非地区FH登记处的系统和战略方法。
系统检索有关心血管疾病的统计文献，并比较中东和北非国家与已建立FH登记处的国家报告的FH突变数量。
17个中东和北非国家仅报告了57种突变，而3个西方国家报告了500多种突变。与西方国家相比，中东和北非国家因心血管疾病导致的死亡率显著更高。
在心血管疾病患病率较高的中东和北非近亲社区中，FH突变的报告相对较少，这表明对心血管疾病遗传风险的认识不足，因此有必要建立一个登记处以预防FH导致的过早心血管疾病。这个登记处将有助于识别新的和已报告的FH突变，所有这些突变都将对中东和北非国家的临床和研究有益。
