Xiao Mei (not her real name) from Shandong fainted suddenly in the hospital and went to the endotracheal tube for rescue. She was saved. But in order to find the cause, she had to travel to many hospitals for nearly two years before being diagnosed with Pompeii disease. On July 9, a consultation meeting for Pompeii patients was held in Guangzhou. Experts from the First Affiliated Hospital of Sun Yat sen University pointed out that "Pompeii disease" was ignored by many doctors and patients clinically due to its low incidence, which led to the widespread delay in diagnosis.
Rare diseases easily misdiagnosed
It is reported that Pompeii disease is a progressive and often fatal neuromuscular disease, which is mainly caused by the lack of acid α - glucosidase (GAA) in the patient's body. The deficiency of GAA will lead to the abnormal metabolism of glycogen, which will be stored in the lysosome of all muscle cells in the body, especially in patients with myocardial, skeletal and respiratory muscles.
Like Xiao Mei, there are many patients who delay misdiagnosis. Statistics show that in children and adults with Pompeii disease, it takes an average of 7-10 years from the first symptom onset to the correct diagnosis.
Professor Tang Wen, from the Department of Pediatrics of the First Affiliated Hospital of Sun Yat sen University, said that there were 199 patients with Pompeii disease in China, and the actual number must be greater than this number. Many doctors were unaware of the disease when they diagnosed it. Due to the rarity of Pompeii disease and the difficulty in distinguishing its clinical manifestations from other neuromuscular diseases and genetic diseases, it is very difficult to diagnose Pompeii disease. It is reported that Pompeii disease is generally divided into two types: infant type with rapid progress (early onset) and late type with relatively slow progress (children and adults). The symptoms of infant patients are not specific at the early stage, usually manifested as general malaise, inability to suck milk, low cry, easy to catch a cold, etc.
Professor Zhang Cheng, Department of Neurology, the First Affiliated Hospital of Sun Yat sen University, pointed out that the symptoms of Pompeii's disease are very similar to some kind of "progressive malnutrition", which is easy to be ignored or misdiagnosed by doctors in clinical practice. Late onset Pompeii disease refers to patients who become ill after one year of age, childhood or even after work. The first thing patients usually feel is easy to get tired and have morbid fatigue. They have asthma when walking and climbing stairs, and get better after rest; Second, the ability to climb stairs, exercise and run and jump is lower than that of normal people; Third, because of the weakness of breathing muscles and the poor performance of the ventilator, endotracheal intubation was used early to support breathing. In this case, Pompeii disease should be considered. "This kind of patients usually have weakness in neck muscles, respiratory muscles and other axial muscles, can not do sit ups, and their body is very thin, with muscle atrophy and other manifestations."
However, experts said that although Pompeii disease is easy to be misdiagnosed, one of the golden criteria for diagnosis is to do enzymology test, which is to determine the condition through acid α - glucosidase activity test. At present, Peking Union Medical College Hospital, Xinhua Hospital affiliated to Shanghai Jiaotong University School of Medicine, Tongji Hospital affiliated to Tongji Medical College of Wuhan Huazhong University of Science and Technology, Guangzhou Women and Children Medical Center and other hospitals have carried out laboratory enzyme tests.
Pompeii disease can be prevented or treated
Professor Zhang Cheng said that compared with other rare diseases, Pompeii patients are lucky because of the specific treatment of enzyme replacement therapy. Enzyme replacement therapy (ERT) is the first specific treatment program for neuromuscular diseases, which can be targeted into the lysosome to metabolize the accumulated glycogen into glucose, thus improving the quality of life of patients and prolonging their life cycle. The best clinical benefits can be obtained by starting enzyme replacement therapy as early as possible before the onset of irreversible muscle injury and the early stage of disease progression.
But in the long run, enzyme replacement therapy is a heavy burden for patients. At present, the only therapeutic drug in China is imported from abroad. According to the different intensity of treatment, an adult costs about 100000 yuan per month, and the annual cost reaches 12 million yuan. In theory, this drug needs lifelong medication. At present, Pompeii disease treatment drugs have been included in medical insurance in Taiwan.
In the treatment of Pompeii disease, experts emphasized that in addition to specific treatment, comprehensive treatment is also very important, such as non-invasive or invasive respirators, which are prone to respiratory tract infection and require anti infection, sputum excretion and other treatment. "Patients also need proper nutrition, high protein diet and proper exercise." Professor Zhang Cheng pointed out that Pompeii disease is a chronic disease. Patients should establish good living habits and a positive and optimistic attitude. Mental tension, excessive fatigue, etc. will trigger the onset of this disease.
Experts pointed out that it needs to be clear that Pompeii disease is very different among individuals, and patients with mild symptoms can still live a normal life or even have children after treatment. Therefore, once the patient is diagnosed, there is no need to be too pessimistic.
Pompeii disease is inherited in an autosomal recessive manner. The parents are carriers of the disease causing gene, and the offspring have a quarter of the chance to get sick, and a quarter of the chance is completely normal, which can break the genetic chain, and the remaining 50% may continue to carry this recessive disease causing gene.
Professor Tang Wen pointed out that babies with Pompeii disease usually have muscle tension underground after birth, cry very little, can't lift their heads, and are unable to suck milk, which makes feeding difficult. Compared with late onset, the prognosis of patients with infantile Pompeii disease is poor, and most of them will develop into cardiopulmonary failure and finally die in about 12 months.
However, this genetic defect can be detected in advance by genetic testing in the fetal period. For high-risk groups with similar cases in their families, it is better to do relevant screening in advance. For families that have ever given birth to children with Pompeii disease, parents should do prenatal examination to detect fetal abnormalities in advance.
Nanfang Daily reporter Yan Huifang
