CASCADE SCREENING AND DISEASE MANAGEMENT OF FH IN SAUDI ARABIA

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Gervais Kelly
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1 PILOT PROGRA OR CASCADE SCREENING AND DISEASE ANAGEENT O H IN SAUDI ARABIA Dr. ohammad AlGhamdi Assistant professor of medicine, KSU-HS Consultant cardiologist, KACC KAC-Riyadh, NGHA

2 NO SCIENCE, BUT.. EPIDEIOLOGICAL ACTS, EDICAL ETHICS, AND HUAN RIGHTS

3 AILIAL HYPERLIPIDEIA POPULATION A EDICAL INORITY

4 Problems of a minority ygroup Neglected Underserved Underrepresented Unsupported Deprived their rights No interest in their problems I m talking on behalf of this minority population

5 Objectives Expose the reality of H in our community Increase awareness of health care professionals Provoke a responsible interest in the field Encourage proactive initiatives from all parties Establish a system of H detection and management

6 acts Young & productive population Premature cardiovascular disease Potentially modifiable CV risk factors Highly variable clinical manifestations requently missed or ignored until late stages Patients are lost between different specialties Lack systematic & comprehensive approach

7 KAC-Riyadh H experience Review of laboratory Database LDL-c level of 8 mmol/l Between Jan 1 st 2002 and April 30 th patients were identified 98 patients were excluded due to: Nephrotic syndrome Hypothyroidism Diabetes ellitus Apparent laboratory error

8 H CLASS ELIGEBILITY SEX AGE RN NAE N O HOE 27 anal 1 HOO 6 alwah 2 HOO 19 Abdullah 3 HETERO 7DISEASES 34 Amal 4 Results HETERO 56 onirah (mother) 5 HETERO 56 okhlid (ather) 6 HETERO 7DISEASES 52 Khalda (aunt) 7??? Haya (aunt) 8 HOO 17 oteb 9 HOO 32 Bandar 10 >40 individuals in 22 families HOO 29 Khalid 11 HOO 20 Salman 12??? Bader 13 No labs -inactive 28 Abdulmohsen 14 No labs -inactive 22 Salem 15 No labs -inactive 33 Wadha 16 No labs -inactive 26 Alwadahy 17 in 22 families from 6 tribes y HETERO 81 arzoq (ather) 18 No labs 57 Shemah (other) 19 HOO 17 Abdulkareem 20 HOO 43 Abdulrahman 21 HOO 23 ajed 22 HOO 7DISEASES 36 ahdah 23 HOO 27 Ahlam 24 HETERO -inactive 29 Eqab 25 HOO 17 Seham 26 HOO EXPIRED 7 Talal 27 HOO -inactive 15 Anfal 28 H CLASS ELIGIBILITY SEX AGE RN NAE NO Homo 30 Redha 1 HOO 8 Gharam 29 HOO 29 awziah 30 HETERO 58 oawadh 31 HOO 20 Ayshah 32 Homo 30 Redha 1 Hetero 33 assad 2 Hetero 29 Hajar 3 Hetero 58 Norah 4 Hetero 38 Saad 5 Hetero 7 Asma 6 Hetero 20 Teflah 7 HOO -inactive 18 Abdulaziz 33 HOO 16 Nawal 34 HOO 22 Sultan 35 HOO 6 anar 36 HOO 16 Radhi 37 Hetero 20 Teflah 7 Hetero 49 Nasser 8 Hetero 48 inwah 9 Hetero 30 Samerah 10 D? Hetero 66 Naflah 11 Hetero 35 Hajyah 12

9 anal 28 y old female Homozygote H College graduate ay 2003 (age 20) CABG + Bentall echanical AVR V ring annuloplasty June 2003 echanical VR

10 anal Got married, underwent C. section Jan 2011 Patient-prosthesis mismatch Irregular apheresis and difficult INR control

11 Sharifah 21 Homozygote H January 2008 (age 20) Root enlargement echanical AVR echanical VR CABG

12 Khalid 30 y, Homozygote H ay 2005 (age 25) CABG + Bentall echanical AVR July 2008 echanical VR Engaged and planning Engaged and planning for marriage soon

13 Abdulkareem

14 elwah 8 y, Homozygote H y, yg eb 2010 (age of 7) CABG

15 anar

16 rs. Heterozygote

17 Hajar

18 Teflah

19 Asma

20 Ongoing g efforts (research) Retrospective study Demographics and clinical outcomes over 20 years By Emad Al-Johani, medical student National Screening and Disease anagement Program for amilial Hypercholesterolemia Community based, cascade screening Pilot project limited to Riyadh city National Guard patients as index cases Aiming for1000 cases over a 4 y. period Demographic, clinical, ca laboratory, a o imaging g and genetic e A research grant, approved by KAIRC, NGHA

21 Co-investigators Dr. Bassam Bdeir, Head, Cardiac Disease angement Dr. Peter Lansberg, for Cardiogenetic Dr. ohammed Balwi, Head, olecular Genetics Engineer Raed Al Hazme, Head, Cardiac PACS Dr. Ibrahim Alabdulkareem, Head of olecular Biology Section Dr. Omar Tamimi, Consultant Cardiologist Pediatric Invasive Dr. Ahmed Saileek, Consultant Cardiologist, Cardiac Imaging Dr. ohsen Al Harthi, Consultant Cardiologist, Cardiac Imaging Tara Conboy, Nurse Specialist, Cardiac Disease anagement Program ohammed Hussain, Director of Advanced Analytics King Abdullah Research Center Joseph ranke, Coordinator Cardiac Clinical and Info Systems

22 Ongoing g efforts (management) Institutional attempts are underway Comprehensive clinic-based management CVD prevention and management Optimal apheresis therapy Vision i for advanced d management Early liver transplantation New novel therapeutic options

23 Conclusions H population in our community lack systematic diagnostic and therapeutic approach It is our professional and moral responsibility to establish a comprehensive H program Our pilot screening project is just one step towards Our pilot screening project is just one step towards a large-scale national program

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