**Background:** Familial hypercholesterolemia (FH) is a hereditary condition characterized by extremely high low-density lipoprotein cholesterol (LDL-C) levels, leading to early atherosclerosis and increased cardiovascular (CV) risk. Homozygous FH affects about 1 in 1 million individuals, while heterozygous FH affects 1 in 300–500 people, totaling approximately 10 million people globally. The COVID-19 pandemic disrupted healthcare systems worldwide, limiting access to routine care, screening, and management for chronic conditions. This narrative review aims to highlight the direct and indirect impacts of the COVID-19 pandemic on CV outcomes in FH patients and identify gaps in the literature to formulate recommendations.
**Methods:** This is a narrative review synthesizing existing literature on FH genetics, diagnostic criteria, and the effects of the COVID-19 pandemic on CV care. The authors discuss multiple diagnostic criteria for FH, including the Dutch Lipid Clinic Network (DLCN), Simon Broome, US MEDPED, National Lipid Association, Japan Atherosclerosis Society, Welsh FH genotype scoring, and FAMCAT criteria. They also review genetic testing protocols, noting that targeted panel sequencing of LDL-R, ApoB, and PCSK9 genes yields positive results in 70%–80% of definitive FH cases. The review draws on studies reporting healthcare utilization changes during the pandemic, such as a decline in lipidologist consultations (33.5% vs. 100.0%, p<.001) and lipid profile evaluations (56.5% vs. 100.0%, p<.01). Data from surveys and registries, including the Italian EPICOVID19 survey (65% fear of contagion) and the European Society of Cardiology poll (50% decline in heart attack admissions), are cited.
**Key Results:** The review identifies several key findings: (1) FH patients with preexisting atherosclerotic cardiovascular disease (ASCVD) are at increased risk for severe COVID-19 and adverse outcomes due to a "two-hit" mechanism involving hypercholesterolemia-induced endothelial dysfunction and COVID-19-related inflammation and thrombosis. (2) Healthcare discrepancies led to reduced consultations and lipid testing; 33.3% of patients avoided seeking medical care due to fear of infection. (3) Socioeconomic disparities worsened during the pandemic, with low-SES patients facing financial insecurity, reduced work productivity (lifetime loss of AUD 101,366 per individual), and inability to afford medications. (4) Racial and ethnic minorities are disproportionately affected: over 90% of FH cases remain undiagnosed in underrepresented groups; African Americans and Latinos are less likely to achieve optimal cholesterol control (half as likely compared to European ancestry patients per CASCADE-FH registry). (5) Lockdown measures reduced physical activity and promoted unhealthy dietary patterns, increasing CV risk. (6) Statin therapy is recommended during acute, convalescent, and chronic stages of COVID-19 for FH patients due to dual lipid-lowering and anti-inflammatory effects. PCSK9 inhibitors also show anti-inflammatory benefits.
**Clinical Implications:** The review emphasizes that FH patients require continuous, long-term management, which was severely disrupted by the pandemic. Key recommendations include: (1) continued use of statins and PCSK9 inhibitors during and after COVID-19 infection; (2) adoption of telemedicine to improve access to care, especially for underserved communities; (3) strengthening universal and cascade screening programs to identify undiagnosed FH cases; (4) addressing socioeconomic and racial disparities through targeted public health policies; (5) incorporating lifestyle interventions (diet, exercise) tailored to individual needs. The authors note that current FH treatment guidelines do not account for pandemic-related disruptions, and future research should focus on epidemiological trends, cost-effectiveness of screening, and the impact of telemedicine on CV outcomes.