Case Presentation
A 20-year-old male presented to the cardiology outpatient department (OPD) with complaints of acute onset chest pain for the last three days, which had been aggravated, and was at peak since 4 am in the morning of the OPD visit. This episode of pain on the day of the visit was associated with nausea and vomiting. There was no previous history of chest pain on exertion, chronic kidney disease, chronic liver disease, diabetes, or bleeding diathesis. On examination, he had a heart rate of 78 beats per minute and blood pressure of 124/76 mm of Hg, S1 and S2 sounds were heard normally with no rub or murmur, and the chest was bilaterally clear with equal air entry. Routine investigations were ordered and the significant findings have been summarized inFigure 1 . An Electrocardiogram (ECG) on admission showed ST segment coving and T wave inversion in precordial leads V2-V4. (Figure 1 ) The two dimensional echocardiography revealed regional wall motion abnormality in the left anterior descending artery (LAD) territory and a left ventricular ejection fraction of 44%.An diagnosis of Acute coronary syndrome / Non ST elevation MI involving LAD territory was entertained and patient was taken up for cardiac catheterization. The coronary angiography depicted a right dominant system with a 30% stenosis in the distal left main coronary artery, 95% stenosis in the proximal left anterior descending artery, and 100% chronic total occlusion in the right coronary artery. (Figure 2 ) The distal right coronary could be seen filling retrogradely from the left coronary system via collaterals vessels. Without complications, the patient underwent percutaneous coronary stenting to LAD with an everolimus eluting stent - Xience Xpedition (Abott Vascular Inc.,Abott park,Illinios,USA)
of size 2.5mm x 48mm. Because of high LDL-C levels and premature CAD, a suspicion of Familial Hypercholesterolemia was there and a through physical examination was done. An ocular examination revealed arcus senilis in upper quadrants of both corneas.(Figure 3 ) There were also xanthomas on the external aspects of Achille’s tendon, ankle ,elbow and triceps tendon. (Figure 4 ) According to the Simon Broome Criteria, since the total serum cholesterol and serum LDL-C were elevated to more than 7.5 mmol/L and 4.9 mmol/L respectively with tendinous xanthomas in the patient a definitive diagnosis of FH was made (4). According to the Dutch Criteria, our patient had a total score of 17 hence again providing a definitive diagnosis of FH (Definite FH needs Score >8). (5) The hospital course was uncomplicated and the patient was discharged in a hemodynamically stable condition. On discharge, the following drugs were advised to the patient- dual antiplatelet therapy (aspirin plus clopidogrel), Beta blocker, ACE inhibitor, Aldosterone and Furosemide. Lipid lowering therapy consisted of High intensity statin therapy - atorvastatin in a dose of 80 mg. Subsequently, on follow up ezetimibe and bempedoic acid were added to lipid lowering regimen but despite triple oral lipid lowering therapy LDL was still not at goal. (Figure 5 ) He had been advised parenteral lipid lowering therapy- Evolocumab (a PCSK-9 inhibitor) but due to cost consideration he could afford it.