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Clinical and Genetic Characteristics of Familial Hypercholesterolemia at Sultan Qaboos University Hospital in Oman
Khalid Al-Waili1, Khalid Al-Rasadi2,3, Fahad Zadjali2
1Department of Clinical Biochemistry, Sultan Qaboos University Hospital, Muscat, Oman.
Insights
Familial hypercholesterolemia (FH) patients in Oman are often underdiagnosed and undertreated, leading to lower achievement of low-density lipoprotein cholesterol (LDL-C) goals. This highlights a critical need for improved FH diagnosis and management strategies in the region.
Area of Science:
- Cardiology and Genetics
- Metabolic Disorders Research
- Public Health and Epidemiology
Background:
- Familial hypercholesterolemia (FH) is a genetic disorder characterized by high levels of low-density lipoprotein cholesterol (LDL-C), significantly increasing the risk of atherosclerotic cardiovascular disease (ASCVD).
- Effective management of FH, including early diagnosis and appropriate lipid-lowering therapy, is crucial for preventing premature cardiovascular events.
- Understanding the clinical and genetic landscape of FH in specific populations is essential for tailoring healthcare interventions.
Purpose of the Study:
- To characterize the clinical presentation and diagnostic status of patients with suspected familial hypercholesterolemia (FH).
- To evaluate the management and LDL-C goal attainment in FH patients at a tertiary care lipid clinic in Oman.
- To identify potential gaps in diagnosis and treatment of FH within the Omani population.
Main Methods:
- A cohort of 450 patients with elevated LDL-C (> 189.0 mg/dL or 4.9 mmol/L) were recruited.
- Diagnosis of FH was established using the Dutch Lipid Clinic Network criteria.
- Univariate statistical analyses were employed to compare characteristics and outcomes between different FH diagnostic categories and ASCVD risk groups.
Main Results:
- Of the 450 patients, 27.6% were classified as 'probable/definite' FH, while 70.0% were 'possible' FH.
- Patients diagnosed with 'probable/definite' FH received more intensive lipid-lowering therapies (high-intensity statins and statin-ezetimibe combinations) but were significantly less likely to achieve LDL-C goals (13.0%) compared to 'unlikely' FH patients (57.1%).
- Hypertension (26.0%), coronary artery disease (22.4%), and diabetes mellitus (17.3%) were prevalent comorbidities.
Conclusions:
- Familial hypercholesterolemia (FH) patients in Oman appear to be underdiagnosed and undertreated.
- A significant proportion of FH patients struggle to reach their LDL-C targets, indicating suboptimal management.
- There is a pressing need for enhanced FH screening, diagnosis, and treatment strategies in Oman to mitigate cardiovascular risk.
Objectives:
We sought to describe the clinical and genetic characteristics of patients with familial hypercholesterolemia (FH) that presented to the lipid clinic at Sultan Qaboos University Hospital, Muscat, Oman.
Methods:
Patients who presented with high low-density lipoprotein cholesterol (LDL-C) levels (> 189.0 mg/dL or 4.9 mmol/L) were recruited to the study. FH was diagnosed according to the Dutch Lipid Clinic Network criteria. Analyses were performed using univariate statistics.
Results:
The study enrolled 450 patients with a mean age of 48.0±12.0 years, 56.0% (n = 252) were males and 11.3% (n = 51) were smokers. At admission, the proportion of 'probable/definite', 'possible', and 'unlikely' FH were 27.6% (n = 124), 70.0% (n = 315), and 2.4% (n = 11), respectively. Overall, 26.0% (n = 117) of patients had hypertension, 22.4% (n = 101) had a history of coronary artery disease, and 17.3% (n = 78) had diabetes mellitus. Those with 'probable/definite' FH were more likely to be prescribed high-intensity statin therapy (75.8% vs. 54.5%; p < 0.001) and statin ezetimibe combination (50.8% vs. 27.3%; p < 0.001) when compared to the 'unlikely' FH cohort. Additionally, those with very high atherosclerotic vascular disease (ASCVD) risk were also associated with high-intensity statin therapy (54.7% vs. 42.7%; p = 0.006) and statin ezetimibe combination (26.4% vs. 17.2%; p = 0.023). Patients with 'probable/definite' FH were less likely to achieve their LDL-C goal attainment compared to those with 'unlikely' FH (13.0% vs. 57.1%; p < 0.001). Furthermore, those with very high ASCVD risk were less likely to achieve their LDL-C goals compared to the high ASCVD risk cohort (9.6% vs. 32.0%; p < 0.001).
Conclusions:
FH patients are underdiagnosed, undertreated, and less likely to attain their LDL-C goals in Oman.