Tetrathyretin amyloidosis cardiomyopathy (ATTR-CM) is a clinically heterogeneous cardiomyopathy characterized by progressive heart failure, which is prone to misdiagnosis and has a poor prognosis. Patients with this disease are referred to as "amyloidosis". Chen Yili, chief physician of the Department of Cardiology at the First Affiliated Hospital of Sun Yat sen University, stated that when there is unexplained edema, difficulty breathing, or abnormal heart rhythm, especially in males over 60 years old, they should go to the cardiology department for examination as soon as possible. In addition, when encountering patients who are older and may have symptoms such as atrial fibrillation, mild elevation of myocardial markers, and bradycardia in clinical practice, it should be noted that they are potential patients with transthyretin amyloidosis. He Shu (not his real name), 78 years old, recalled that four years ago, his ankle was swollen like a Mantou with hair noodles, and the pit left by pressing could not be recovered for half a minute. The size 42 shoes that were originally fit, were stretched to size 44. At first, Uncle He only thought that swelling in his ankle was an inevitable rheumatism in old age, thinking that rubbing and resting would cure it. It wasn't until the swelling crawled over his lower leg and crossed his knee, causing his fingers to swell into curled carrots that he couldn't tie his shoelaces or hold his pen. Uncle He then realized that it was not appropriate and was diagnosed with transthyretin cardiac amyloidosis after visiting multiple hospitals and departments. Chen Yili explained that transthyretin induced cardiac amyloidosis is caused by the misfolding of transthyretin produced by the liver, resulting in the accumulation and deposition of insoluble amyloid fibers in the myocardial interstitium. The early onset is insidious, and the clinical symptoms lack specificity. It may be foot swelling, shortness of breath, abnormal heart rhythm, spinal pain, joint stiffness, or nausea and bloating, which are easily misdiagnosed as unexplained heart failure or hypertrophic cardiomyopathy, thus delaying the treatment of the disease. According to the latest data released at the 2025 European Society of Cardiology Conference (ESC), 22% of patients in the study had symptoms of peripheral neuropathy during the onset of the disease, which non specialist doctors are prone to misdiagnosis as common heart failure, kidney disease, or neuropathy; 57.3% of patients were diagnosed with severe impairment of heart function. Cardiac hypertrophy, heart failure, and low voltage on electrocardiogram are warning signs of transthyretin induced cardiac amyloidosis. ”Chen Yili said, "Due to insufficient understanding and limited testing conditions of this disease in primary hospitals, patients with transthyretin amyloidosis have not been detected in a timely manner, and a large number of cases have been missed." There are research reports that the median survival period of transthyretin amyloidosis is is only 2 to 6 years, and most patients die from cardiac death, including sudden death and heart failure. Chen Yili said that early diagnosis is particularly important as it can buy valuable time for subsequent treatment and delay the deterioration of the condition. When encountering elderly people with unexplained edema and shortness of breath, ask if they have numbness in their hands and feet? Having an additional cardiac ultrasound may save one more life. ”Chen Yili expressed that she looks forward to the emergence of more innovative drugs with different targets and mechanisms in the future, helping them improve their quality of life and giving those "starch people" who have struggled with misdiagnosis and suffering the opportunity to embrace a dignified and quality of life again. (New Society)
Edit:Wang Shu Ying Responsible editor:Li Jie
Source:China News Service
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