Inherited atherogenic dyslipidemias represent a group of monogenic disorders characterized by elevated levels of atherogenic lipoproteins, significantly increasing the risk of premature atherosclerotic cardiovascular disease (ASCVD). These conditions—familial hypercholesterolemia (FH), familial combined hyperlipidemia (FCHL), and familial primary hypoalphalipoproteinemia (FHA)—are formally recognized in the International Classification of Diseases (ICD) and extensively documented in clinical literature. Despite their well-established pathophysiology and significant public health impact, these disorders remain grossly underdiagnosed in routine clinical settings. Epidemiological data suggest that FH alone affects approximately 1 in 250 individuals globally, with prevalence rising to as high as 75% among patients with early-onset ASCVD under the age of 65.FAK Antibody Biological Activity However, real-world clinical practice reveals a stark contrast: diagnostic codes for inherited atherogenic dyslipidemias are rarely recorded in medical records.CD38 Antibody Technical Information
A recent analysis of hospital discharge records from Pisa, Italy, covering over 61,000 admissions across four years, found that only 5.PMID:35129075 4% of patients were assigned an inherited atherogenic dyslipidemia code—most frequently as a secondary diagnosis. Among those admitted for ASCVD (n = 31,380), this figure rose slightly to 9%. In the subset of patients under 65 years of age (n = 13,221), only 9.2% carried such a diagnosis, far below the expected rate. This discrepancy underscores a systemic failure in identifying and coding these high-risk conditions. The reasons likely include time constraints during acute hospitalizations, particularly for acute coronary syndromes (ACS), where clinicians prioritize immediate life-saving interventions over long-term genetic risk assessment. As a result, patients are often discharged without a formal diagnosis or referral for cascade screening.
The economic implications are substantial. Patients with both ASCVD and inherited atherogenic dyslipidemia incurred average costs more than double those without the diagnosis—€15,285 versus €5,699—highlighting the increased burden associated with undiagnosed disease. Moreover, the growing use of expensive therapies such as PCSK9 inhibitors and lomitapide in patients who may not meet diagnostic criteria raises concerns about healthcare sustainability. Without accurate diagnosis, treatment becomes reactive rather than preventive, undermining the potential benefits of early intervention.
To address this gap, it is imperative to integrate the diagnosis of inherited atherogenic dyslipidemia into quality-of-care indicators for ACS and myocardial infarction management. Public health authorities must support standardized diagnostic pathways, promote awareness among physicians, and invest in population-based screening strategies. Only through systematic identification can we ensure timely initiation of statin therapy, cascade family screening, and effective secondary prevention—ultimately reducing the global burden of premature cardiovascular disease.MedChemExpress (MCE) offers a wide range of high-quality research chemicals and biochemicals (novel life-science reagents, reference compounds and natural compounds) for scientific use. We have professionally experienced and friendly staff to meet your needs. We are a competent and trustworthy partner for your research and scientific projects.Related websites: https://www.medchemexpress.com
