HoFH Patient Stories | At 27, with three blocked vessels, I never knew what “illness” I had?

Editor's Note: Xiao Yang is a HoFH patient at the Hongmili Mutual Aid Home. His experience reflects the common predicament faced by patients with rare diseases: early signs are misinterpreted, there is a lack of standardized treatment pathways, doctors lack sufficient understanding of the disease, and patients themselves have weak health awareness. We hope his story will encourage more young patients with very severe hyperlipidemia to pay attention to that "just a number" indicator earlier, and also make more doctors more vigilant when dealing with young patients with hyperlipidemia: could it be familial?

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In February 2024, Xiao Yang, 27 years old, was working overtime at the company when he suddenly experienced a sharp but brief chest pain. He didn't pay much attention to it at the time.

He didn't know that it was the last warning his body was giving him.

"The electrocardiogram was normal; the doctor said there's nothing to worry about."

February 2024, a people's hospital in a county in Jiangxi Province.

When Xiao Yang walked into the cardiology clinic, he was actually a little uneasy. Lately, he had been experiencing chest tightness when walking fast, difficulty climbing hills, and shortness of breath with even slight exertion. He had searched for his symptoms on Xiaohongshu (a Chinese social media platform) and the more he read, the more it seemed like angina.

"But I wasn't even 28 years old at the time, and I couldn't believe it," Xiao Yang recalled.

The doctor at the county hospital performed an electrocardiogram (ECG) on him, and the results were normal. "Seeing that my ECG was normal, they said I had no problem," Xiao Yang admitted. He admitted that he had a bit of wishful thinking at the time, "so I kind of hid it from myself and told myself I didn't have this disease, and didn't pursue it further."

Unbeknownst to him, at that very moment, his coronary arteries were narrowing day by day.

Gout, high cholesterol, and those overlooked "red numbers"

In fact, Xiao Yang's blood lipid problem had already shown signs seven years ago.

In 2016, 20-year-old Xiao Yang suffered his first gout attack. "My right knee hurt so much that I couldn't get out of bed and stayed in bed for a week." Since then, he has gone to the hospital every three months for blood tests, mainly to monitor his uric acid levels.

His blood lipid test results started showing abnormalities in 2017. The lab reports from before he started taking the medication are no longer available. The earliest lab report Xiao Yang could find was from March 2018, when he should have already started taking the medication intermittently. His LDL cholesterol was 8.27 mmol/L—far exceeding the normal range.

Blood lipid test results from 2018

But Xiao Yang didn't take it seriously.

"I pay much more attention to uric acid than to blood lipids," he admitted. The reason is simple: gout causes him so much pain that he can't get out of bed, while high blood lipids "are just a number and don't cause any abnormalities in my body."

From 2016 to 2019, Xiao Yang consistently sought treatment at Hunan Provincial People's Hospital, always visiting the endocrinology or nephrology departments, all for gout. He never specifically visited the cardiology department for his cholesterol issues.

During this period, only one doctor warned him. "He said my blood lipids were abnormally high and that I might have a heart attack or stroke later," Xiao Yang recalled. At that moment, he was indeed nervous and took it seriously for a while, consistently taking his medication. But not long after, the medication ran out, and he was too lazy to go to the hospital for a new one, so he stopped taking it again.

“My parents sometimes remind me to take my medicine,” Xiao Yang said. “Sometimes I take it when they remind me, and sometimes I don’t.”

"I was rather capricious," he described his attitude towards medication at the time. "I took it when I wanted to, and I didn't take it when I didn't want to. There were times when I was off medication for more than six months."

A xanthomas that were mistaken for "gouty tophi"

Xiao Yang actually had a special physical sign on his hand a long time ago.

In hisA small bump appeared on each of my finger and elbow joints."It probably started before 2017," Xiao Yang recalled. After his first gout attack in 2016, he would ask the doctor what it was every time he went to the hospital. The doctor's answer was always the same: gouty tophi.

"I always thought that both this place and this place were gouty tophi."

It wasn't until September 2025 that the Red Rice Grain Organization held its first FH Conference in Wuhan. Xiao Yang signed up to participate in the group discussion for homozygous patients. "I saw that they had xanthomas on their faces and hands. After discussing it, I realized that I had xanthomas in this place and this place."

Later, as he began using evolocumab regularly, his blood lipids gradually decreased, and the xanthomas on his hands disappeared. "Only now can I confirm that this was a xanthomas, otherwise it wouldn't have disappeared out of thin air."

This "gouty tophi," which had been mistaken for a gouty lesion for nearly ten years, was actually the most obvious physical sign of his familial hypercholesterolemia. However, neither he nor the doctors he consulted associated this small bulge with serious cardiovascular risks.

My father had a heart attack, and incidentally, I was also diagnosed with coronary heart disease.

In March 2024, Xiao Yang's father suffered a sudden heart attack while working in Changsha.

Xiao Yang traveled from Jiangxi to Changsha to take care of his father. At the hospital bedside, he mentioned his symptoms to the doctor: chest tightness when walking and shortness of breath when climbing hills. The doctor then ordered some tests for him. This time, he underwent a coronary CTA.

The results came back the next day: severe coronary artery stenosis.

"I really couldn't believe it at the time," Xiao Yang said. "I felt so young, and I was doing this test to rule out coronary heart disease, but I was diagnosed with it instead, and it was quite severe."

He had mixed feelings at the time. But what made him even more desperate was what happened next.

The doctor recommended that he undergo heart bypass surgery.

"I'm so young, I can't accept bypass surgery."

In May 2024, Xiao Yang was admitted to the Department of Cardiology at Xiangya No. 2 Hospital of Central South University.

During hospitalization,2024

After coronary angiography, the doctor found that his condition was far more serious than expected: his right coronary artery was completely blocked, and his left coronary arteries were also blocked by more than 80% and 90% respectively.

"The doctor said it was very serious and did not recommend stenting, but suggested bypass surgery instead."

Xiao Yang refused.

“I was only 27 years old at the time and not married yet. If I had bypass surgery, there would be a long scar on my chest, and blood vessels would be taken from my calves to my knees, leaving a large scar. I felt I couldn’t accept that.”

"And what I'm thinking is, what if the bypass graft gets blocked again? If I have a stent first, and then the stent gets blocked, I might still have a chance to have another bypass."

He repeatedly asked the doctor: Which is better, bypass surgery or stenting? The resident told him that the reason for recommending bypass surgery was that his heart condition was too complex and too severe, and stenting surgery was riskier than bypass surgery. But at the same time, the doctor also softened his stance: "As long as you have the surgery, take good care of yourself afterward, and follow the doctor's advice, it's fine."

Post-coronary angiography and stent placement, 2024

Ultimately, the doctor agreed to try placing a stent first. But it couldn't be done in one go—he needed to clear the blockage in his right coronary artery, rest for two or three months, and then have his left coronary artery implanted.

In late May 2024, Xiao Yang underwent his first coronary stent surgery. In late August, he underwent his second surgery.

After the genetic testing, the doctor did not interpret it for him.

During his hospitalization, the doctor told Xiao Yang, "You definitely have familial hypercholesterolemia. I suggest you get a genetic test."

Xiao Yang followed the advice. The hospital didn't have its own genetic testing capabilities, so they gave him the contact information for a third-party organization. He chose a package that specifically tested for gene fragments related to familial high cholesterol, costing 1200 yuan, all out-of-pocket.

"If the whole genome testing costs 3,000, I chose the 1,200 option."

The genetic testing report arrived two or three months after he was discharged from the hospital. He took the report to the outpatient department of Xiangya No. 2 Hospital and found the resident doctor who had suggested he get the test.

“He didn’t understand it,” Xiao Yang recalled. “He didn’t offer any suggestions or analysis, he just took a picture, said he would study it when he got back, and that was it.”

“Even after I gave him the genetic report, he did not interpret or explain it in any way.”

As for the classification of "homozygous" or "heterozygous," which is crucial for treatment plans and prognostic assessment, the doctor never mentioned it to him.

“He only told me that I have familial hypercholesterolemia. I only found out that I was homozygous when I sent my genetic report to a teacher at the Red Rice Grain Organization during a meeting. He said I was homozygous. I had always thought I was heterozygous before.”

From "Willfulness" to "Regularity"

Before being diagnosed with coronary heart disease, Xiao Yang's medication was always taken haphazardly.

"I'm just pretty capricious. I eat when I want to eat, and I don't eat when I don't want to eat."

Although he started taking lipid-lowering drugs around 2017, he often stopped after one or two months, and it was common for him to stop taking the medication for more than six months. "My medication adherence is not high."

In 2023, the low-density level even reached as high as 11.96 mmol/L.

The most important source of motivation is my parents' advice. "They told me that I might eat it for a month or two. But that's just my personality. They said it, and I agreed, but I would actually not eat it for a long time."

This situation completely changed after a coronary CTA was performed in March 2024.

"It was only after the coronary CTA diagnosis that things started to stabilize, and I started taking medication almost without interruption."

Currently, Xiao Yang's medication regimen is as follows: ezetimibe in the morning, statin (rosuvastatin) in the evening, and evolocumab (Rebicon) injection every two weeks. In addition, he also needs to take anticoagulants and heart rate lowering drugs long-term after coronary stent placement.

After nearly two years of regular treatment, his LDL cholesterol dropped to around 1.8 mmol/L.

But he was not entirely satisfied.

"The resident doctor told me to keep it below 1.4, but even after taking statins, ezetimibe, and procob, plus injections, it only dropped to around 1.8, which is still not what I expected."

Later, he joined the Red Rice Grain Patient Support Group.

"Seeing so many patients' stories, all of whom couldn't get their blood pressure down even with medication and injections, I felt like I was actually quite lucky."

Trip to Nanjing, December 2024

"I know nothing about gene therapy, and I wouldn't choose it."

When asked if he knew anything about gene therapy for HoFH, Xiao Yang's answer was straightforward: "No."

"The reason I don't understand is because my low-density lipoprotein has already dropped to 1.8. I don't have that urgent desire for gene therapy. If I had to choose now, I wouldn't do it."

He said it was more of a "fear of not understanding." "Life is already pretty good now, I'm basically satisfied. It's like if you have a good job now, and suddenly someone offers you a job that pays 20,000 a month, you don't dare to go because you don't know what that job is like, or whether you can handle it."

But he did have high hopes for the new drug.

"If there were a medicine that could lower my blood pressure from 1.8 to 1.4, and increase it by 50% each month, to around 1500 yuan, I think it would be fine."

He values safety above all else. "The first priority is definitely better safety. The results are already pretty good for me, and I don't want to take any extra risks."

"I just hope it can be kept at this number."

Now, Xiao Yang's life has become more stable.

He has a check-up every six months, and his blood lipids remain around 1.8. He insists on taking his medication and injections, and dares not stop. He knows that if he stops, his low-density lipoprotein will rise, which is "a very high-risk thing."

Low density maintained at 1.8-2 mmol/L, 2024.12

"I just hope it can be kept at this number."

When asked if he would switch to another drug if imported PCSK9 inhibitors remained unavailable, he replied decisively, "I would definitely switch to domestically produced ones. I'm aware of the situation now and can't stop."

“I was diagnosed with coronary heart disease when I was 27 years old, and three of my blood vessels were severely blocked. If I had paid more attention to that blood lipid level, which is just a number, a few years earlier, maybe I wouldn’t have had to undergo these two surgeries on my heart.”

This is Xiao Yang's story, and it is also a typical microcosm of young HoFH patients - their bodies sent out signals very early on, but those signals were too weak, so weak that they were easily ignored by themselves and their doctors, until one day, their hearts used the most intense methods, making it impossible for them to ignore them anymore.