You Won’t Believe What This 10-Year-Old Boy with HoFH Did

Doctors in New Delhi, India recently made history by performing a heart bypass surgery on a young boy who has the rare condition called homozygous familial hypercholesterolemia, or HoFH.

The result of this condition is the body can’t break down lipids (fats) and they accumulate in the arteries, and in other organs, causing cardiovascular problems.

At the time the boy was admitted to the hospital, he had already had a heart attack and was in heart failure. Doctors first performed an angiography, where a catheter is passed into the coronary arteries.

In a great many cases, a stent is placed in the blocked artery which inflates it. When the artery is blocked to the extent a stent placement isn’t possible, bypass surgery is performed with the end goal of restoring the patient’s blood flow.

For the young boy, surgeons were able to successfully repair his heart and he was discharged a week later, and by all reports is doing well.

A person with HoFH typically has a cholesterol level between 500-1000 mg/dL—more than four times the normal level, and to add insult to injury, statins, the first-line of defense against high cholesterol, barely budges those numbers.

The condition is caused by a genetic mutation, most commonly to the LDL receptor. Other genes that produce proteins that help with LDL removal from the blood are PCSK9 and apolipoprotein B. A mutation of one or both of those genes can also result in HoFH.


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