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.