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Patient Story – A 60-year-old with uncontrolled Hypercholesterolemia

A 60-year-old man was referred to us for uncontrolled hypercholesterolemia

Hypercholesterolemia, or hyperlipidemia refers to high cholesterol levels in the blood. If this condition is not controlled, plaque can accumulate in the blood vessels. This can obstruct blood supply to various parts of the body; if your heart or brain doesn’t get enough blood supply, it can lead to heart attack or stroke.

Patients with hypercholesterolemia are treated with statins, when other lifestyle modifications have failed to control the cholesterol levels. Statins decrease the amount of bad cholesterol circulating in the blood. Sometimes, statins can cause undesirable side effects in certain patients, such as headache, dizziness, physical weakness, muscle pain, etc.

The patient had hypercholesterolemia for 20 years, fortunately without any cardiovascular complications. He has been treated with a variety of statins or lipid-lowering agents. As a result of this, he suffered from severe side effects, including myalgia or muscle pain and elevation in lipid enzymes implicating liver damage. Over 20 years, he was prescribed different kinds of medications, but the lipid levels were uncontrolled.

A detailed personal evaluation was performed, and a GenepoweRx comprehensive genomic screening was completed. This revealed that the patient had a variant for the proprotein convertase subtilisin/Kexin type 9 (PCSK9) gene. The presence of this gene product increases cholesterol levels in an individual naturally. This can explain why use of statins and other treatment methods were ineffective.

The patient was prescribed only Repatha (evolocumab), a PCSK9 inhibitor, and was asked to stop taking previous statins and fibrate medications.

At the 6 months follow-up, his cholesterol level was controlled with gradual improvement with no side effects. The patient was relieved that he was able to understand the underlying cause of his condition, and after all the years, a small change in the medication specific to his condition will help him lead a better life.