Work

Homozygous familial hypercholesterolemia Evaluation and Survival study in Saudi Arabia (HESSA): differences in therapeutic approaches and practice between adults and pediatric patients

Year: 2025

Type: article

Abstract: Introduction Homozygous Familial Hypercholesterolemia (HoFH) is a genetic disorder marked by extremely high LDL-C levels, leading to early cardiovascular disease and aortic complications. It typically presents in childhood with severe lipid-related symptoms, including xanthomas and corneal arcus, and carries a high risk of premature coronary artery disease, often as early as age 4The disorder is especially prevalent in regions with high consanguinity rates, such as Saudi Arabia, where specific mutations have been identified in local populations. Early diagnosis and treatment are crucial, as the disease burden differs significantly between pediatric and adult populations, with treatment approaches tailored to the unique needs of each group to reduce morbidity and mortality. Methodology: This retrospective chart review was conducted at a tertiary referral. We identified all patients with LDL-C levels exceeding 8 mmol/L between 2000 and 2023 using the hospital's electronic medical records. Patients who met the clinical or genetic criteria were included. Results A total of 514 patients with LDL-C levels exceeding 8 mmol/L (310 mg/dL) were identified. Among them, 127 patients (25%) were diagnosed with HoFH. The cohort was 50% male, with an average age at diagnosis of 14.3±9.7 years (range 1.4 to 50.6 years). Family history of dyslipidemia was reported by all patients, with only one patient admitting to smoking. No patients had diabetes, and 7 patients (5.5%) had hypertension. The average LDL-C at first encounter was 15.9±4.8 mmol/L, with a maximum recorded value of 28 mmol/L. Average total cholesterol was 18.4±5.4 mmol/L, HDL-C was 0.9±1 mmol/L, and triglycerides were 1.3±0.9 mmol/L. Lipoprotein(a) was measured in 55 patients, with an average of 108.6±94.8 nmol/L, and 35 patients had Lp(a) levels above 75, averaging 180.3±68.3 nmol/L. Treatment regimens varied, with statins and ezetimibe prescribed to 71% and 72% of patients, respectively. Evolocumab was used in 30%, and 36% underwent apheresis treatments. Other therapies included lomitapide (5%), and liver transplantation was performed in 28 patients (21%). Upon age-based stratification, adults (≥18 years) were more likely to be treated with statins and ezetimibe (71% vs. 50% in pediatrics), and 43% of adults received Evolocumab compared to only 17% of pediatric patients. Apheresis was more common in adults (38% vs. 8% in pediatrics), while liver transplantation was predominantly performed in pediatric patients (38% vs. 7% in adults). Conclusion this large cohort of HoFH patients in Saudi Arabia highlights significant differences in treatment patterns between adults and pediatric patients. These variations may reflect both patient and physician perceptions of treatment modalities. Understanding these differences is crucial for optimizing management strategies

Source: European Journal of Preventive Cardiology

DOI: 10.1093/eurjpc/zwaf236.440