Plastics Scholars | Youth Hyperipidation, Be alert to family hypertrophy

Author:Guangdong Provincial Hospital Time:2022.07.29

[Plastics Scholarship opens column] Care for life with heart, extend the service with love, the column of the Plastics Academy will regularly push the knowledge of the heart and the science of health care related to the heart and the critical care of the heart.

"Doctor, my son is only 13 years old. Why is cholesterol so high? I told him to drink less milk tea, he just didn't listen!" The child's mother started to complain just as soon as I entered my clinic. Puzzling, "Listening to friends who introduced Dr. Zeng Zeng specially studied blood lipids, I quickly took him over to see."

"I didn't drink much milk tea!" The child pouted.

"Don't worry, there is a way to solve the problem of blood lipids. Let me look at the inspection report first." I read the report while I was comforting.

No wonder the child's mother is so nervous that the child's cholesterol is indeed scary, total cholesterol (TC): 12.28 mmol/L, high density lipoprotein cholesterol (HDL-C): 1.37mmol/L, low density lipid protein cholesterol (LDL-C-C-C-C ): 9.9mmol/L, non-high-density lipoprotein cholesterol (NON-HDL-C): 10.91 mmol/L. I checked in detail, and I didn't find that the skin on the child had yellow tumors. Further inquiries to learn that the child's father had coronary heart disease in his 40s. According to the family history of blood lipid tests and early cardiovascular disease, the child was initially judged that the child suffered from family hypertrophy (FH).

What is family hypertrophymia?

Family hypertrophy is a rare genetic disease. Its clinical characteristics are that TC and LDL-C are abnormally elevated at birth, the skin or tendon forms characteristic yellow tumors, and the family history of family history of cardiovascular disease Essence Studies have shown that among the people aged 35 to 75 in my country, the prevalence of the FH is about 0.13%, that is, about 1 patients per 769 people. Patients with FH patients suffer from atherosclerotic sclerosis cardiovascular diseases are 20 times higher than normal people.

What is the cause?

FH is caused by genetic mutations. The most common mutant gene is low -density lipoprotein receptor (LDLR). LDLR is responsible for removing LDL-C. The genetic mutation leads to a significant decrease in the number of LDLRs, which leads to a significant decrease in the clearance ability of the LDL-C in the blood circulation in the blood circulation. C is significantly higher and disease. In addition, relatively rare mutant genes include lipoprotein B (APOB) and pre -protein conversion enzyme -proof straybonininase/KEXIN9 (PCSK9). FH can be divided into two categories: HEFH (HEFH) and purehezi family hypertrophymia (HEFH). The incidence of HOFH is much lower than HEFH, but the level of LDL-C and the risk of cardiovascular.

How to detect family hypertrophymia in the early days?

Patients with FH generally do not have obvious clinical symptoms in the early days. Some FH patients can find yellow tumors, which are more common in Achilles tendon, hand extension tendon, elbow, knee or eyelid. Once a suspicious yellow tumor is found on the body, it must be paid attention to and check blood lipid as soon as possible.

There are those who have a family history of early cardiovascular disease (male <55 years old, female <65), or families with FH patients. Family members have sudden cardiac deaths in the family members. They should also pay attention to screening blood lipids as soon as possible.

What should I do if they are diagnosed with family hypertrophymia?

For patients with FH, early diagnosis and early treatment are the most critical measures to prevent cardiovascular disease and reduce mortality. In terms of diagnosis, the LDL-C level before treatment is ≥4.9mmol/L. It is necessary to consider the possibility of FH. First of all, the genetic testing can be improved, and there are mutations for LDLR, APOB, and PCSK9 genes in the screening. Based on the blood lipid report and clinical characteristics evaluation determination is HOFH or Hefh. Then, the evaluation and examination of relevant risk factors need to be improved, evaluate the risk of cardiovascular disease in patients, and guide subsequent treatment. At present, Batin, Emperor Macs and PCSK9 inhibitors are the main therapy drugs of FH. The doctor's advice of the specialist of blood lipids, insisting on treatment, and long-term maintenance of LDL-C is particularly important for preventing atherosclerosis cardiovascular disease.

Let's take a look at the case at the beginning of the article. The child finally explicitly diagnosed as a heterogeneous hypertrophic hypertrophy, and there is no risk of cardiovascular risk factors such as hypertension, hyperglycemia, and carotids. The combined treatment of tablets, Embromes, and PCSK9 inhibitors, dynamically review blood lipid assessment.

Author of this issue:

Zeng Ruixiang

The chief physician of the Department of Critical Medicine, Guangdong Province, a training member of the American Cardiology Society, a member of the Science Popularization Branch of the Chinese Traditional Chinese Medicine Information Society, youth member of the Professional Committee of the Chinese and Western Medicine Society for Slow Prevention and Management. Youth Member, Member of the Guangdong Medical Industry Association's Critical Medical Management Branch, Youth Member of the Cardiovascular Cerebral Vascular Cerebrates Management Committee of the Guangdong Provincial Senior Health Care Association, and Secretary -General of the Plastic Culture Professional Committee of the Guangdong Guangfu Culture Research Association. Presided one youth project of the National Natural Science Foundation of China, 1 project of the Guangdong Provincial Department of Science and Technology, participated in 12 national and provincial and ministerial projects, 1 editor -in -chief of books, and published 25 academic papers (14 first authors), of which SCI source journals Includes 22 articles (11 articles), with a total impact factor of 76.63. The editor -in -chief of "Comic Crown Heart Diseases" was invited to the popular science heart rehabilitation knowledge such as Beijing Satellite TV's "Health Hall", Xinhua News Agency's "Xinhua Health", Guangdong Satellite TV "Healthy Tao", Guangzhou TV "Health 100FUN", and won the science of Guangzhou Science Innovation Awards Popularization Contribution Award (Organization) First Prize. Good at: hyperlipidemia (main research direction), acute myocardial infarction, hypertension, arrhythmia, heart failure and other Chinese and Western medical diagnosis and treatment, coronary heart disease intervention therapy, and cardiac synthesis of Chinese and western medicine.

Outpatient: Every Wednesday afternoon (Heart Clinic, West District, Dade Road General Hospital of Guangdong Provincial Hospital of Traditional Chinese Medicine)

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