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15 April is the International Pompeii Day of Disease
You probably know Pompeii
But ever heard of Pompeii disease?
Pompeii, a beautiful name, often refers to an ancient city that has disappeared for nearly 2,000 years.
Pompeii, also the name of a rare disease, was first reported in 1932 by Dutch pathologist Joannes Cassianus Pompe.
Pompe disease, an inherited lysosomal storage disorder also known as glycogen storage type II or acidic α–glucosidase (GAA) deficiency, is usually inherited in an autosomal recessive manner.
Because it is located on chromosome 17, the gene encoding acidic α-glucosidase is mutated, resulting in acidic α-glucosidase deficiency in the body, so that glycogen cannot be metabolized normally, and then stored in the lysosomes of various tissues, resulting in cell and organ damage, especially skeletal muscle, myocardium and smooth muscle, which are most seriously affected, resulting in fatigue, weakness and other symptoms, and a small number of cases with dyspnea.
The prevalence of the population is generally 1/40,000 to 1/300,000.
01
Morbidity is low and mortality is high
According to the age of onset and the rate of disease progression, Pompeii disease is divided into infantile and late-onset.
● Infantile onset occurs within about 3 months of birth, and most children are born with floppy limbs, motor retardation, feeding difficulties, breathing difficulties, and inability to meet developmental criteria as scheduled. If left untreated, they often die of heart failure or respiratory failure around the age of 1 year.
●Late-onset type can be divided into children's late-onset type (onset from 1 to 18 years old) and adult late-onset type (> 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, feeling tired during movement, shortness of breath, sleep apnea syndrome or intermittent sleep, etc.
If left untreated, patients will gradually develop respiratory muscle involvement leading to respiratory failure, causing disability or even death.
02
Early identification and early diagnosis are key
Pompeii is complex and rare, and patients are often diagnosed after referral to multiple hospitals, and they face misdiagnosis.
Pompeii disease is suspected in patients with unexplained muscle weakness or amyotropia, hypercreatine kinaseemia, electromyography suggesting myogenic impairment, or in patients with spinal deformities, respiratory muscle weakness, type II respiratory failure, and axial muscle weakness.
Pompeii disease can be determined by GAA enzyme activity measurement, muscle biopsy, GAA gene testing and other means.
03
Rare diseases that can be treated with medicine
Pompeii disease is one of the few rare diseases that can be treated with medicine.
The cytarabulase α for injection is a drug specifically used to treat Pompe disease, and it is also the only enzyme replacement treatment drug that can save the life of Pompeii disease, which has been approved in China.
As a rare disease, Pompeii disease requires lifelong medication. An adult patient needs to spend about 100,000 yuan per month, and the cost may reach one or two million yuan a year. Most families cannot afford such a heavy financial burden.
Fortunately, at present, Zhejiang Province has included this drug in the rare disease medical insurance directory, which greatly reduces the burden on patients and families. Patients with Pompeii disease can return to normal life through standardized treatment.
Remember Wang Weijia, the "Pompeii Disease Bully" who was admitted to Nankai University with 662 points that year? Diagnosed with Pompeii disease in junior high school, he gradually developed frequent walking and wrestling, difficulty running and jumping, scoliosis, and even the 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 α-cytarosidase treatment and her condition improved significantly. After his own continuous efforts, he finally got a high score and was admitted to the ideal university. "The world kissed me with pain, but I repaid it with a song", although Wang Weijia was tormented by illness, he became a teenager flying against the wind.
Pompeii disease, unfortunate and fortunate, there is hope for light, let us pay more attention to rare diseases, because every small group should not be abandoned.
The Neuromyopathy team of the Department of Neurology of Run Run Shaw Hospital took the lead in carrying out neuromuscular biopsy and pathological diagnosis in Zhejiang Province, and was good at the comprehensive diagnosis and treatment of various neuromuscular diseases including metabolic myopathy (Pompe disease, lipid deposition, mitochondrial disease), muscular dystrophy and inflammatory myopathy and other genetic and acquired myopathies and peripheral neuropathies.
bibliography:
1． Chinese expert consensus on the diagnosis and treatment of late-onset glycogen accumulation disease type II (Pompeii disease) in adults. Chinese Journal of Neurology Vol. 54, No. 10, 2021.
Source: Run Run Shaw Hospital
Author: Department of Neurology Xia Ping
Original works, reprinted please indicate the source and source
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