title: Familial hypercholesterolemia mutations in the Middle Eastern and North African region: a need for a national registry.
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.
authors.affiliation: Department of Clinical Biochemistry, King Abdulaziz University, Abdullah Sulayman, Jeddah, Saudi Arabia.
authors.forename: Mary Aderayo
authors.initials: MA
authors.lastname: Bamimore
authors.affiliation: Department of Biochemistry, Tripoli University, Tripoli, Libya.
authors.forename: Ahmed
authors.initials: A
authors.lastname: Zaid
authors.affiliation: Department of Biochemistry, Sultan Qaboos University, Al Khod, Muscat, Oman.
authors.forename: Yajnavalka
authors.initials: Y
authors.lastname: Banerjee
authors.affiliation: Department of Medical Biochemistry, Ministry of Health, Kuwait City, Safat, Kuwait.
authors.forename: Ahmad
authors.initials: A
authors.lastname: Al-Sarraf
authors.affiliation: Department of Pharmacy, Saint Joseph University, Beirut, Lebanon.
authors.forename: Marianne
authors.initials: M
authors.lastname: Abifadel
authors.affiliation: Department of Biochemistry and Neuroendocrinology, Clinical Research Institute of Montreal, Montreal, QC, Canada.
authors.forename: Nabil G
authors.initials: NG
authors.lastname: Seidah
authors.affiliation: Department of Biochemistry, Sultan Qaboos University, Al Khod, Muscat, Oman.
authors.forename: Khalid
authors.initials: K
authors.lastname: Al-Waili
authors.affiliation: Department of Biochemistry, Sultan Qaboos University, Al Khod, Muscat, Oman.
authors.forename: Khalid
authors.initials: K
authors.lastname: Al-Rasadi
authors.affiliation: Department of Clinical Biochemistry, King Abdulaziz University, Abdullah Sulayman, Jeddah, Saudi Arabia. Electronic address: zawan@kau.edu.sa.
authors.forename: Zuhier
authors.initials: Z
authors.lastname: Awan
mesh_terms: D000352:Africa, Northern; D002318:Cardiovascular Diseases / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000453:epidemiology / Q000235:genetics*; D008877:Middle East; D009154:Mutation; D011973:Receptors, LDL / Q000235:genetics*; D012042:Registries
chemical_list: D011973:Receptors, LDL
keywords: Cardiovascular diseases; Cascade testing; Familial hypercholesterolemia registry; Genetic screening; Mutations