SAT-566 Avoiding the Heartache: A Case of Familial Hypercholesterolemia

Mustafa Kinaan, Arelys Ramos Rivera, Hanford Yau
2020 Journal of the Endocrine Society  
More than 70% of individuals with atherosclerotic cardiovascular disease are believed to have underlying gene-linked mechanisms leading to hyperlipidemia. It is estimated that 1 in 200 individuals in the United States has heterozygous Familial Hypercholesterolemia (FH). We present a case that highlights the importance of comprehensive care for a patient with heterozygous FH, from screening and risk stratification, to therapy. Our patient is a 43-year-old gentleman with history of
more » ... y of hyperlipidemia. At age 25, he was diagnosed with hyperlipidemia and was started on statin therapy. He has strong family history of cardiovascular disease. His mother had her first myocardial infarction (MI) at age 40 and required coronary artery bypass. She also suffered from three strokes. His maternal aunt and uncle suffered from MIs at age 38 and 40, respectively. Additionally, his maternal grandfather passed away from MI at age 38. The patient's daughter was found to have total cholesterol level > 300 mg/dL at age 8. He does not have history of obesity, diabetes, previous cardiovascular events, or hypothyroidism. He is athletic and follows a healthy diet. He did not have any xanthomas, xanthelasmas, nor arcus cornealis. At time of initial evaluation, the patient had low-density lipid (LDL) level of 180 mg/dL despite therapy with rosuvastatin, ezetimibe, and niacin. Based on these findings, we proceeded with genetic testing. Results of testing showed a heterozygous c.6delG (p.Trp4Glyfs*202) pathogenic mutation of the LDL receptor. We also obtained cardiovascular risk stratification studies. On cardiac CT angiogram, he was found to have extensive, four-vessel disease with 80-90% stenosis of the left ascending artery (LAD) with coronary calcium score of 136 and total score of 219 (99th percentile). Exercise, stress myocardial perfusion scan showed small reversible anteroseptal perfusion abnormality suggestive of mild to moderate ischemia. LAD stenosis was confirmed on a left heart catheter, but no intervention was required. We proceeded with aggressive lipid-lowering therapy with rosuvastatin 40mg daily and alirocumab 300mg monthly. He was also started on aspirin and beta-blocker given coronary artery disease. Following initiation of therapy, the patient's LDL level dropped to 51 mg/dL with total cholesterol level of 153 mg/dL, HDL of 47mg/dL, and triglycerides of 109 mg/dL. The patient was encouraged to seek genetic counseling for his children and first degree relatives. His daughter was started on rosuvastatin 7.5mg daily by her pediatrician. The patient has not suffered any cardiovascular events and continues to follow up for therapy. Without aggressive lipid-lowering therapy, the lifespan of FH patients can be significantly shortened. Therefore, identifying FH patients is imperative to prevent cardiovascular disease in these patients and their afflicted family members.
doi:10.1210/jendso/bvaa046.893 fatcat:duubyh6l5nha7jo7hot5vaoxeq