PIECING THE PUZZLE TOGETHER WHEN FAMILY HISTORY IS UNKNOWN: EARLY DIAGNOSIS AND MANAGEMENT OF A PATIENT WITH FAMILIAL HYPERCHOLESTEROLEMIA

Therapeutic Area

CVD Prevention – Primary and Secondary

Case Presentation

A 43-year-old male presented to our primary care clinic to establish care. He was in his usual state of health, endorsed a balanced diet and daily exercise. His family history was unknown as he was adopted. Vital signs were normal, and the physical exam was unremarkable. A routine lipid profile revealed a total cholesterol level of 391 mg/dL, LDL-C level of 251 md/dL, HDL-C level of 57 mg/dL, and triglyceride level of 56 mg/dL. Given abnormally elevated LDL-C levels in a patient who otherwise had no known risk factors, an FH screening panel was ordered. The patient was also started on 40 mg atorvastatin daily and referred to the lipid clinic where he was diagnosed with FH using the Dutch Lipid Clinic Diagnostic Criteria (5 points: LDL- C between 250- 325 mg/dL+ 8 points: functional genetic mutation).

Background

Familial Hypercholesterolemia (FH) is a genetic disease that contributes to an increased risk for coronary artery disease, MI, and sudden cardiac death. Although awareness surrounding FH is increasing, this condition remains underdiagnosed and undertreated. In most countries, less than 20% of prevalent cases are diagnosed, and even less patients are aware of their condition, often not until after the first ASCVD event. Literature shows that underdiagnosis is multifactorial, including lack of awareness of the disorder, a lack of international consensus on which diagnostic criteria is superior, and minimal comfort with treating patients with intensive therapy.

Conclusions

Family health history is crucial to disease prevention though physicians often lack time and patients can lack information (as in this case). Genetic testing is the future of preventive medicine but remains underutilized in the primary care setting3. There has historically been uncertainty surrounding insurance coverage of genetic testing and the financial implications for patients. Collaborative efforts among primary care providers, genetics departments, lipid clinics, and insurers are essential to recognize the full potential of genetic testing while ensuring equitable access and affordability to all patients. This case highlights the importance of early identification, treatment, and referral of FH patients who would otherwise be missed given their asymptomatic status and unknown family history.