ESPE2024 Poster Category 2 Late Breaking (107 abstracts)
Familial Hypercholesterolemia in Saudi Arabia: Clinical Characteristics and Mortality Rate
Afaf Alsagheir 1 , Mohammed Albitar 2 , Rahaf Alansari 1 , Alhanouf Aljaser 1 , Anas Ali 1 , Maeen Aldamouni 2 , Ziad Alhosainy 2 , Rojina Mohamed 2 , Heba Jaamour 2 , Raghad Alhuthil 1 , Saad Al-hamoudi 1 , Abdulaziz Aldayel 1 , Ismail Abdullah 2 , Mohammad Aljumaa 2 , Yara Khamaj 2 , Ali Mcrabi 1 & Meshari Alquayt 1
1King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia. 2Alfaisal University, Riyadh, Saudi Arabia
Background: Familial Hypercholesterolemia (FH) increases the risk of atherosclerosis, leading to early cardiovascular disease (CVD) and death at a younger age. Therefore, this study aims to describe the clinical characteristics of FH patients, assess the outcome of adopting reverse cascade screening, and describe the complications and rate of mortality in FH cases followed at our center.
Methods & Materials: This is a descriptive study of patients diagnosed with FH at King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, Saudi Arabia, from (2010 to 2023). Data were collected via chart review and phone calls. Verbal approval was taken from all participants, and ethical approval was obtained from the ethics committee at KFSHRC (reference: 2231109).
Results: Among the 98 patients with Homozygous Familial hypercholesterolemia (HoFH) from 25 families, 46 (46.9%) were males and 52 (53.1%) were females, with a median age of 16 years (IQR: 9-25). All Saudi nationals (100%), with participants primarily from the Riyadh Province (43.9%). Most participants were single (90.8%) and had a normal BMI (43.9%), though 45.9% were underweight. A significant number had a positive family history (85.7%) and consanguinity (74.5%). Cascade screening identified 76 individuals (out of 135 family members whom did the screening) with elevated LDL levels (>4 mmol/L), with a median of 7 affected members per family (IQR: 4-13). Management included lifestyle changes for all patients (100.0%), liver transplants (23.8%) (stopped all medical therapy after transplant), LDL apheresis (36.9%), 10 patients are on Lomitapide and all were on statins and ezetimibe. LDL levels at diagnosis had a median of 19 mmol/L (IQR: 15-21.83), with significant reductions for those whom undergoing liver transplant and those on Lomitapide (3.2 mmol/L, IQR: 2-3.5). Complications included xanthomas (100%) and heart disease (36.7%). The mortality rate was 15.3%, primarily due to cardiovascular disease with mean age at death (16 years, IQR: 6-26).
Conclusion: This study highlights the severe impact of FH in Saudi Arabia, emphasizing the need for early detection and comprehensive management. The findings underscore the importance of genetic screening, personalized treatment, and proactive family engagement to reduce cardiovascular risks associated with FH. Enhanced public health strategies and healthcare interventions are essential to improve outcomes for FH patients in the region.
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