Mary Aderayo Bamimore1, Ahmed Zaid2, Yajnavalka Banerjee3, Ahmad Al-Sarraf4, Marianne Abifadel5, Nabil G Seidah6, Khalid Al-Waili3, Khalid Al-Rasadi3, Zuhier Awan7. 1. Department of Clinical Biochemistry, King Abdulaziz University, Abdullah Sulayman, Jeddah, Saudi Arabia. 2. Department of Biochemistry, Tripoli University, Tripoli, Libya. 3. Department of Biochemistry, Sultan Qaboos University, Al Khod, Muscat, Oman. 4. Department of Medical Biochemistry, Ministry of Health, Kuwait City, Safat, Kuwait. 5. Department of Pharmacy, Saint Joseph University, Beirut, Lebanon. 6. Department of Biochemistry and Neuroendocrinology, Clinical Research Institute of Montreal, Montreal, QC, Canada. 7. Department of Clinical Biochemistry, King Abdulaziz University, Abdullah Sulayman, Jeddah, Saudi Arabia. Electronic address: zawan@kau.edu.sa.
Abstract
BACKGROUND: 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. OBJECTIVE: Review the reporting status of FH mutations across MENA and propose a systemic and strategic method for building a MENA FH registry. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
BACKGROUND: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. OBJECTIVE: Review the reporting status of FH mutations across MENA and propose a systemic and strategic method for building a MENA FH registry. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
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