The 15th of this month is International Pompeii Disease Day
You may know the ancient city of Pompeii
But have you heard of Pompe disease?
Pompeii, a beautiful name, often refers to an ancient city that disappeared for nearly 2 thousand years.
Pompeii, also the name for a rare disease, was first reported by Dutch pathologist Joannes Cassianus Pompe in 1932.
Pompe disease is an inherited lysosomal storage disorder, also known as type II glycogen storage disease or acid alpha-glucosidase (GAA) Deficiency, usually inherited in an autosomal recessive manner.
Because it is located on chromosome 17, the gene encoding acid α-glucosidase is mutated, resulting in the lack of acid α-glucosidase in the body, so that glycogen cannot be normal Metabolized, and then stored in lysosomes of various tissues, resulting in cell and organ damage, especially skeletal muscle, cardiac muscle and smooth muscle are the most seriously affected, resulting in fatigue, weakness and other symptoms, and a few onset with dyspnea.
The prevalence of the population is generally 1/40000～1/300000.
01low morbidity and high mortality /span>
According to the age of onset and the rate of disease progression, Pompe disease is divided into infantile and late-onset forms.
● The infantile type develops within 3 months of birth, and most infants present with limp limbs, delayed motor development, difficulty in feeding, labored breathing, and unable to schedule as scheduled. reach developmental standards. If there is no effective treatment, often die of heart failure or respiratory failure at about 1 year old.
● Late onset can be further divided into late-onset children (1~18 years old) and adults (>18 years old). Symptoms are variable and can manifest as progressive muscle weakness, especially in the trunk and lower extremities, difficulty going up and down stairs, fatigue with movement, shortness of breath, sleep apnea syndrome, or intermittent sleep.
If left untreated, patients will gradually develop respiratory muscle involvement leading to respiratory failure, resulting in disability or even death.
02Early identification, early diagnosis is the key /span>
The symptoms of Pompe disease are complex and the cases are rare. Patients are often diagnosed after being referred to multiple hospitals, and they will also face Misdiagnosed situation.
For patients with unexplained muscle weakness or atrophy, hypercreatine kinase hyperemia, EMG suggestive of myogenic damage, or with spinal deformity, respiratory muscle Pompe disease should be suspected in patients with weakness, type II respiratory failure, and axial muscle weakness.
Pompe disease can be confirmed by GAA enzyme activity assay, muscle biopsy, and GAA gene detection.
03Rare diseases with cures
Pompe disease is one of the few rare diseases with a cure.
Alglucosidase alfa for injection is a drug specially used for the treatment of Pompe disease, and it is also the only approved enzyme replacement therapy drug that can save the life of Pompe disease. Approved domestically.
As a rare disease, Pompe disease requires lifelong medication. An adult patient needs to spend about 100,000 yuan per month, and the annual cost may reach one or two million yuan. Most families cannot afford such a heavy financial burden.
Fortunately, Zhejiang Province has now included this drug in the rare disease medical insurance list, which greatly reduces the burden on patients and families. Patients with Pompe disease can return to normal life through standardized treatment.
Do you remember Wang Weijia, the “Pompeii disease master” who was admitted to Nankai University with a score of 662? Pompeii disease gradually appeared, often falling down when walking, difficulty in running and jumping, scoliosis, and even need to wear a ventilator to sleep every day. In 2017, the same year that Wang Weijia was admitted to high school, with the help of social welfare people, Wang Weijia used it After receiving α-alglucosidase treatment, his condition improved significantly. After his own continuous efforts, he finally got into the ideal university with a high score. “The world kisses me with pain, but I repay it with a song.” Although Wang Weijia was suffering from illness, But he became a teenager flying against the wind.
Pompeii disease, unfortunately but lucky and bright There is hope, let us pay more attention to rare diseases, because every small group should not be abandoned.
The Neuromyopathy Team of the Department of Neurology, Run Run Shaw Hospital First to carry out neuromuscular biopsy and pathological diagnosis in Zhejiang Province,specialized in various neuromuscular diseases including metabolic myopathy (Pompe disease, lipid deposition disease, mitochondrial disease), muscular dystrophy and inflammatory myopathy, etc. Comprehensive diagnosis and treatment of inherited and acquired myopathy and peripheral neuropathy.
Neurology
Shao Yuquan
Chief Physician
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Neurology
Xia Ping
Deputy Chief Physician
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References:
1. Chinese expert consensus on the diagnosis and treatment of late-onset glycogen storage disease type II (Pompe disease) in adults. Chinese Journal of Neurology, Vol. 54, No. 10, 2021.
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Source: Run Run Shaw Hospital
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