Born Extraordinary: Cholesterol Seven Times Over the Limit, Truth Revealed Only 25 Years Later

Original • Rare Diseases • Heartwarming Science Popularization

But until he was 28 years old,

Kobayashi finally understood

What is it that's troubling me?

In 1992, I was just 3 years old.

becauseIt grew between my buttocks and fingers

Protruding from the skin surfaceyellowtumor，

My parents took me to the local county hospital for a checkup.

The doctor said it was due to malnutrition.

The family didn't pay much attention to it.

However, the tumor did not shrink.

It also spread to other parts of the body.

When I was 7 years old, my parents took me to...

Examination at the provincial capital's cancer hospital

The doctor also diagnosed it as malnutrition.

In the five years that followed,

I have been going from one local hospital to another for treatment.

"Strengthening nutrition" has become the most frequently heard treatment option.

But the xanthoma continued to grow as before.

Moreover, the area where it grows also becomes very sensitive.

It hurts a lot if I bump or hit anything.。

I also have a palm-sized yellow lump on my buttock.

It is 15 centimeters long and 8 centimeters wide.

Therefore, I cannot sit for long periods of time.

A class is 45 minutes long.

I often need to carry my schoolbag or something soft.

I need to put something on the chair to support myself.

I am also very thin.

Xanthoma is very prominent on the body surface.。

Sleeping on a bamboo mat in summer

My thighs and arms are extremely painful.

I feel like only sleeping on cotton would be comfortable.

During the summer vacation when I was 11 years old,

The yellow tumors on my body suddenly grew very fast.

The ears also grew out like inflated balloons.

It's about the size of a quail egg.

The ears look like those of Pigsy (Zhu Bajie).。

After school started, my classmates all gathered around and asked me what was wrong.

Because of multiple yellow tumors on his body

During my middle school years, I endured

Many strange looks and harsh mockery.

In addition, I was very thin and weak at the time.

I suffered severe and prolonged school violence.

I asked myself the same question over and over again.

Why did this happen?

When I was 13, my family took me to Shanghai.

I visited almost all the well-known hospitals.

We initially went to the dermatology department.

But the doctor didn't know what was wrong either.

The second time I went,

The doctor just said that a blood test is needed.

The result was that I found outHigh blood lipids

Low-density lipoprotein cholesterol (LDL-C)

It's more than 7 times the normal value!

At first the doctor was afraid to giveminorsI use lipid-lowering drugs.

But my blood lipids have always remained high.

It was a year later that the doctor decided to prescribe medication for me.

Cut the tablet in half or a quarter before taking it.

But it didn't have any effect after taking it.

What exactly causes high blood lipids?

How can it be treated effectively?

During the years I sought medical treatment in Shanghai

We visited dermatology clinics, ENT clinics,

Pediatrics, Endocrinology, Hematology

But in the end, nothing was found.

At that time, doctors from several departments gathered together.

He took out a very thick medical book and started looking it up.

But they gained nothing.

Only one veteran pediatrician said...

I've seen this situation described in a book.

But no one has ever seen it in reality.

For a time, the treatment seemed to have reached a dead end.

I've also considered having the xanthoma removed.

But the doctor said it was like cutting chives.

It is possible for it to grow back after removal.

It may grow faster than before.

Moreover, skin suturing is difficult.

High likelihood of inflammation.

Therefore, I am not advised to have it removed.

In 2009, I turned 20.

I think xanthoma is really unsightly.

It also affected my life, so I still went ahead with the surgery.

Upper eyelid removedxanthoma and

A yellowish lump about the size of a ping-pong ball on the coccyx。

Other parts, such as the feet,

They need to undergo surgery together, and then rest for two months after the surgery.

If the stitches aren't done properly, the scar will be hard and cause blisters when wearing shoes.

Therefore, no excision was performed.

Until now,I need to wear shoes that are 3 sizes larger.。

However, surgical removal cannot solve the fundamental problem.

My heart problem is becoming more and more obvious.

Climb two or three flights of stairs, or run for a minute or two.

My heart started pounding really hard.

In 2017, I went to Beijing for my first comprehensive medical checkup:

I had a coronary CT scan and also underwent genetic testing.

CT results showedSevere blood vessel blockage endangers life.。

So while waiting for the genetic testing results,

I had a heart stent surgery first.

At 28 years old, I have three stents implanted in my heart.

Three months later, the genetic testing results came back—

Key genes involved in LDL-C catabolism have mutated.

I was diagnosed withhomozygote

Familial hypercholesterolemia (HoFH)。

It was then that I realized the crescent moon in my eyes

ActuallyOily corneal arch,

Like xanthomas all over the body，

These are all typical symptoms of HoFH.

The pathogenic variants in HoFH patients are usually...

Inherited from both parents, which means that the parents are also

Patients with familial hypercholesterolemia.

The patient's siblings may also be affected.

So, my parents and sister also had their blood lipids tested.

My sister has normal blood lipids, but my parents have high blood lipids.

Genetic testing revealed thatMy parents do have it.

Heterozygous familial hypercholesterolemia (HeFH)。

My uncle and aunt also have relatively high blood lipids.

I don't know if it's related to HeFH.

Editor's Note: HeFH is fromA single allelic variant of a disease-causing geneThis condition is caused by genetic mutations, with an incidence rate of approximately 1 in 250. Symptoms are mild, with few outward manifestations, and are easily overlooked. Offspring of HeFH couples may carry gene mutations from both parents, thus forming...Biallelic variation of a disease-causing geneorMonoallelic variations of two disease-causing genesThis causes HoFH.It is even rarer (with an incidence rate of about 1 in 300,000), with severe symptoms, early onset, and obvious physical manifestations.

Because it's a genetic issue,

Common lipid-lowering drugs are not very effective.

The doctor suggested I try it.Lipid purification therapy。

In 2017, I did it intermittently 7 times.

Each session lasts about an hour and a half.

After the procedure, LDL-C will immediately drop to normal levels.

However, the effect of each purification only lasts for half a month.

So it's like kidney dialysis.

Frequent and regular treatment is required.

However, the costs each time are reimbursed by medical insurance.

It would cost another 5,000 to 6,000 yuan out of pocket, which is really hard to bear.

So now, I only do blood lipid purification 2-3 times a year.

Take regularlystatins (lipid-lowering drugs)，

Regular injectionsMonoclonal antibody formulations that lower LDL-C，

In additionDiet control and exercise，

This is to slow the further development of cardiovascular problems.

Reduces cardiovascular risk by 20 times compared to the average person.

During my follow-up examination the following year, my blood lipid levels finally decreased.

The xanthoma has also lightened in color.

Now, the yellow bumps on my hands and knees

They all deflated like balloons.

However, the areas around the eyes, hips, and ankles haven't shrunk yet.

It still affects our lives.

After the diagnosis, the questions that had been lingering in my mind were finally answered.

I've also started to cherish my body more.

Take a rational view of the yellow tumors on your body.

I no longer do jobs that require staying up late or heavy physical labor.

Although my childhood experiences had a profound impact on my psychology,

I still feel somewhat inferior even now.

But other people's opinions no longer affect me.

When someone asks me: Why do I have yellow tumors on my body?

I will answer your questions patiently.

I also frequently answer questions for fellow patients in the support group.

I hope all patients can get diagnosed and start medication as soon as possible.

This is the only way to effectively control the growth of xanthomas.

And the occurrence of cardiovascular diseases.

The fight against rare diseases is not easy.

But with increasing attention from more and more people

I believe,

We will definitely be able to achieve what ordinary people do.Same

Good quality of life!