Taking Care of a Young Adult With Familial Hypercholesterolemia

A 33-year-old male patient of Lebanese origin has been diagnosed with Familial Hypercholesterolemia (FH) since 2001 (clinical diagnosis at that time and with confirmed molecular diagnosis in 2010). His father and uncle both suffered a myocardial infarction at the age of 30 years. The patient also was a former smoker (10 pack-years, stopped at the age 26 years) and sedentary. Despite the FH diagnosis and other risk factors, he was a poorly adherent patient and many times stopped taking lipid-lowering drugs. In June 2008, on treatment with atorvastatin 80 mg and ezetimibe 10 mg, he presented with the following lipid profile: total cholesterol 275 mg/dL, HDL-C 16 mg/dL, LDL-C 200 mg/dL and triglycerides 295 mg/dL.

In July 2008, despite being asymptomatic, he had a computed tomography coronary angiography (CTCA) after a positive treadmill test. The CTCA showed a calcified plaque in the left main coronary artery without luminal reduction, a mixed plaque in the left anterior descending artery (LAD) with low-grade luminal reduction, a non-calcified plaque in the distal right coronary artery (RCA) with moderate/important luminal reduction and a coronary calcium score of 96.

At this time, it was decided to continue medical treatment. He improved treatment adherence. Nicotinic acid 1g and aspirin were also prescribed. The next lipid profile showed an important reduction in LDL-C to 54 mg/dL. He remained asymptomatic with LDL-C levels maintained below 70 mg/dL.

In 2013, a routine repeat CTCA showed progression in his coronary disease with a 70% luminal reduction in the LAD and appearance of a non-calcified plaque in the posterior descending artery with important luminal reduction. There was also an increase in the coronary calcium score to 258. Subsequently, due to the CTCA findings and strong family history of early myocardial infarction, he was referred directly for invasive coronary angiography showing moderate lesions in LAD and diagonal artery. Additionally, there were significant lesions in the left marginal and RCA, which were treated with percutaneous transluminal coronary angioplasty with stent implantation.

The patient remains asymptomatic up to the present date. Current daily medications are rosuvastatin 40 mg, ezetimibe 10 mg, aspirin 100 mg, atenolol 50 mg, nicotinic acid 2 grams and clopidogrel 75 mg. The last lipid profile was: total cholesterol 87 mg/dL, HDL-C 28 mg/dL, LDL-C 48 mg/dL and triglycerides 55 mg/dL.

Regarding cardiovascular risk stratification for this patient, what should be the best response?

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