Content Sources:
1. Wang Li, Xiao Shiying, Li Li, et al. Research progress on genetic diagnosis technology for familial hypercholesterolemia[J]. Chinese Journal of Preventive Medicine, 2015, 49(3).
2. Zhou Qiong, Zhang Bingchen. New progress in the treatment of familial hypercholesterolemia[J]. Electronic Journal of Hypertension and Cardiovascular Diseases, 2018, 3(06).
3. Liang Yong, Li Zhenhua. A review of the etiology and clinical management of familial hypercholesterolemia[J]. Journal of Practical Cardiocerebropulmonary and Vascular Diseases, 2015, 23(12).
Hyperlipidemia is a common disease that has become a nightmare for many people. Most people develop cardiovascular complications and even life-threatening cardiovascular complications due to improper control of the disease. Sun Xu, 27 years old, who lives in Hangzhou, has suffered from hyperlipidemia in his family, and when he accompanied his parents to the hospital for examination, the doctor reminded him many times that he needed regular physical examinations, and there was a high probability that he would not be able to run.
In May 2016, Sun Xu came to the hospital for a follow-up. A few days later, he got the inspection report. The data showed that total cholesterol was 8.3 mmol/L and LDL cholesterol was 5.2 mmol/L, both of which were outside the normal range. Sun Xu attached great importance to this situation and immediately found a doctor to consult the situation. After understanding, the doctor thought that it was familial hypercholesterolemia.
Familial hypercholesterolemia is an inherited metabolic disorder that is mainly caused by specific genetic variants that affect cholesterol transport and metabolic processes in the body. Patients have abnormally high levels of low-density lipoprotein cholesterol (LDL-C) in their bodies because the function of LDL-C receptors is affected by genetic factors that prevent the normal removal of LDL-C from the blood. If left unchecked, this condition can increase the risk of coronary artery disease, heart disease, and even early-onset heart disease.
After listening to the explanation, Sun Xu felt nervous. The doctor prescribed him a atorvastatin and advised him on some precautions for daily life. After returning home, Sun Xu opened the medicine box and found the drug instructions, and looked at it at a glance, and there were too many side effects to see.
Atorvastatin, as a drug, is effective in reducing lipid levels in the blood, and its principle of action lies in interfering with a critical step in the synthesis of cholesterol in the liver. It targets HMG-CoA reductase in the liver, which is required for cholesterol synthesis.
By inhibiting the activity of this enzyme, atorvastatin reduces the natural amount of cholesterol synthesis, forcing the body to adjust its cholesterol balance. In response, the number of receptors for LDL cholesterol on the surface of liver cells increases, which prompts more LDL cholesterol to be removed from the blood, resulting in a decrease in LDL levels in the plasma.
Even so, Sun Xu still insisted on taking medication, coupled with a light diet, and asked his good friends to play basketball whenever he had time. On June 10, while playing, Sun Xu accidentally fell to the ground and sprained his ankle. It was swollen at the time. I couldn't get out of bed for days.
It took nearly half a month to recover, which is almost good. But since then, he often felt exhausted, his limbs were tired and weak, and he had no energy to do anything all day. He thought that the last sprain had not completely healed, and he went to the hospital on purpose, but everything was normal.
In July, Sun Xu went home on a business trip. When I was packing my things, I found that I couldn't find an important document. Calling and communicating with the hotel staff, he has always been able to speak well, but he frequently did not reach his meaning, and it took a lot of effort to say a word. Thankfully, in the end, things were found again.
Three months after taking the drug, Sun Xulai rechecked his blood lipids, and the data decreased to a certain extent. Among them, the total cholesterol level is 7.8 mmol/L, and the LDL cholesterol is 5.0 mmol/L. He was very happy with this change, and after thanking the doctor, he limped out, every step felt like stepping on cotton.
The doctor noticed the abnormality and quickly stopped him and asked, "What's wrong with your leg?" Sun Xu explained that he was injured from playing before. But it's been a long time. The doctor had doubts in his heart and suggested that he do a detailed examination, but Sun Xu said that the bones had been checked and there was no abnormality.
However, this made the doctor's suspicions even deeper, and he proposed this test. Hearing this, Sun Xu refused, saying: "I know my own body, this can't be that disease." With that, he left on his own.
On September 27, Sun Xu returned home from overtime, it was already late at night, and he was still limping home. As soon as he entered the house, he collapsed on the sofa, and after a while he was about to get up and take a shower, but he found that he couldn't stand up, he struggled hard, and accidentally hit the corner of the table, fainting on the ground in an instant, unconscious.
After receiving the consultation, the doctor learned from the family that the patient had a family history of hyperlipidemia. The object of suspicion was immediately locked on cardiovascular disease. However, the electrocardiogram showed no abnormality, and the brain CT showed that the patient's brain was severely atrophied, which means that he will be paralyzed for life or never wake up. After the rescue, Sun Xu was sent to the ICU for close observation
When the parents saw the doctor come out, they hurriedly grabbed the other party and asked, "Does my son have a cerebral hemorrhage?" The doctor shook his head. Then he asked, "It must be a cerebral infarction, and many people in my family who have this disease are like this." But the doctor continued to deny it.
The old couple was anxious and asked, "It's not a cerebral hemorrhage or a cerebral infarction, so what other disease can kill my son?" Seeing this, the doctor sighed, and it seemed that none of them had discovered the secret of the problem.
Subsequently, the doctor said: "His disease is not a cerebral infarction, nor a cerebral hemorrhage, but this rare disease that even I didn't expect. But if he could not do this, where would there be such an unwarranted disaster? ”
Although statins are generally considered safe and well tolerated, changing the dosage of the drug, especially increasing the dose of the statin, can cause some serious side effects, including a rare but potentially fatal myopathy: myolysis.
Myolysis is a clinically emergency condition characterized by acute muscle injury leading to the rupture and death of muscle cells. The contents of the muscle cells then enter the blood circulation, which can cause damage to a variety of organ systems, especially the kidneys.
The impact on the lungs and heart should not be overlooked. In some severe cases, large amounts of myoglobin are deposited in the kidneys, which can lead to acute kidney failure, a potentially life-threatening condition that requires urgent treatment.
Increasing the dose of statins without permission may increase the risk of developing myolysis. First of all, because the liver is the main site of drug metabolism, an overdose of statins can increase the burden on the liver and may cause liver toxicity. Impaired liver function slows down the metabolism and clearance of drugs, which in turn increases statin concentrations in the body and increases the risk of muscle toxicity.
Second, statins can directly damage muscle tissue. Studies have shown that statins decrease cholesterol synthesis by inhibiting enzyme activity and may also affect some of the biochemical pathways which are vital for muscle health. For example, statins reduce the synthesis of an important compound called coenzyme Q10. Coenzyme Q10 plays a key role in maintaining energy metabolism in muscle cells, and a deficiency of this compound may lead to a decline in muscle cell function, increasing the risk of their rupture.
In addition, an overdose of statins can exacerbate an individual's pre-existing muscle damage, especially in people who exercise heavily or have too much muscle overload over a long period of time. Because of the slight breakdown of muscles after exercise, the use of statins in large amounts in this state may turn minor muscle damage into severe muscle lysis. As muscle cells break down, large amounts of creatine kinase are released into the bloodstream, a marker for diagnosing muscle damage.
Since muscles are the mechanical basis for body movement, their destruction and weakness can affect the ability to move, and gradual muscle damage can even lead to muscle weakness and paralysis. Severe muscle damage can also involve failure of the respiratory muscles, making it difficult to breathe, which in turn affects life-sustaining.
Taken together, changing the statin dosage, especially without the doctor's consent, can lead not only to myolysis but also to other serious side effects that require critical medical intervention. Therefore, formal medical monitoring and medication guidance are essential when using statins. It is important to emphasize that any adjustments regarding the dosage or treatment regimen of the drug must be evaluated by a medical professional to ensure the safety of the patient's medication.
If a patient experiences muscle pain, weakness, or abnormal urine color while taking a statin, they should stop taking the statin immediately and consult a doctor for evaluation and treatment as soon as possible. Correct and scientific use of drugs, according to doctor's instructions and prescribed dosages, regular blood tests if necessary, and monitoring for potential elevated creatine kinase or other biochemical abnormalities are extremely important for maintaining individual health.