Familial hypercholesterolemia is a condition in which there is a genetic defect which disrupts the cholesterol metabolism and increases LDL (bad) cholesterol which in turn can cause blockage in the arteries causing heart attack, stroke, or other complications.
Mr. XY suffers from this condition. Many of his immediate family members had heart attacks in their thirties and forties. His cholesterol was not controlled even after maximum dose of statin therapy, other cholesterol medications, diet, and exercise. He knew that he could have a heart attack anytime as he turned forty.
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Few months after his fortieth birthday, his fear turned into reality. He went for a jog in the morning and suddenly started having sharp chest pain radiating to his left arm. He started sweating. One of the fellow joggers noticed that he was not feeling well and promptly called 911. EMS arrived and he was taken to the ER. Initial EKG done by the EMS team confirmed that he was having a heart attack. As soon as he reached the hospital, the cardiology team took him to the cath lab to perform cardiac catheterization and started critical life saving medications. Fortunately, the cardiologist was able to restore the circulation in his heart by putting a stent in one of the main arteries. Within few minutes, his chest pain eased up and he started feeling better.
The medical team adjusted his medications and put him on one of the new cholesterol medications called Repatha (Evolocumab) which is a PCSK9 inhibitor. PCSK9 controlled by a gene on Chromosome 1, if overactive, can hinder the clearance of LDL cholesterol by the Liver thereby increasing the LDL levels. PCSK9 inhibitor drugs block the PCSK9 activity and thereby allow the Liver to clear LDL cholesterol from the circulation.
After few weeks of this new treatment, Mr. XY had new set of labs and was curious to see his cholesterol numbers. His LDL cholesterol dropped remarkably from 200 range to 20! He could not believe the power of this medication!
Now, he dauntlessly dreams about his daughter’s wedding and grandchildren’s graduation with a hope that this new drug will add several years to his lifespan. He jogs everyday and is thankful to the fellow jogger who saved his life. He often teases his wife that his cholesterol is much better than hers!
Hats off to researcher Nabil Seidah’s group, French and other scientists who made discovery of this drug possible!
Note: Inspired from true patient encounters from clinical practice for educational purpose only. Names, characters, businesses, places, events, locales, and incidents are either the products of the author's imagination or used in a fictitious manner. Any resemblance to actual persons, living or dead, or actual events is purely coincidental.
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