Wits FIND-FH – EAS 2019 abstract draft 
Cascade screening for Familial Hypercholesterolemia in South Africa reveals a significant number of subjects with more than one FH mutation: The Wits Find-FH Program
Frederick J Raal1, El Mustapha Bahassi2, Belinda Stevens1, Traci A Turner2 and Evan A Stein2.
1Stein Center for FH, Carbohydrate and Lipid Metabolism Research Unit, Department of Medicine, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg. South Africa; 2Medpace and Medpace Reference Laboratories (MRL), Cincinnati. Ohio. USA; 

Background: Due to gene founder effects, familial hypercholesterolemia (FH) has a prevalence of approximately 1:80 in populations of Afrikaner ancestry and is also a major contributor to premature CVD in South Africans of Jewish and Indian descent. No systematic program existed to identify these families. Furthermore, information regarding FH prevalence in black Africans is sparse. The Wits FIND-FH program was initiated in late 2016 to address these issues. 
Methods: Based on subjects with definite or probable FH, 1st degree relatives were contacted, informed consent obtained and targeted medical history, physical examination and blood samples collected.  All subjects had lipid, apolipoprotein, biochemistry tests to exclude secondary hyperlipidemia performed, and in patients with likely FH by clinical assessment, DNA analysis for LDLR, APOB, PCSK9, LDLRAP1 mutations were analyzed by Next Generation Sequencing. 
Results: To date 700 subjects have been screened with 479 clinically diagnosed as probable or definite FH. Genetic analysis confirmed 285/479 (59.5%) as having mutations consistent with FH. Five subjects met the clinical diagnosis for homozygous FH but DNA analysis revealed a further 32 patients, including 4 black African subjects, with genetically determined HoFH (two or more FH mutations).
Conclusions: Using phenotype cascade screening The Wits FIND-FH program has averaged 30.4 subjects monthly, found a clinical FH diagnosis in 68% of whom  ≈ 60% were genetically confirmed.  The program is identifying a small but growing number of black South Africans with FH. HoFH based on either a clinical or genetic diagnosis was found in 37 (7.7%) of subjects.

03 - CASCADE SCREENING FOR FAMILIAL HYPERCHOLESTEROLEMIA IN SOUTH AFRICA REVEALS A SIGNIFICANT NUMBER OF SUBJECTS WITH MORE THAN ONE FH MUTATION: THE WITS FIND-FH PROGRAM.