On May 15, the first multidisciplinary adult comprehensive clinic for tuberous sclerosis (TSC) in mainland my country was officially established in the First Affiliated Hospital of Guangzhou Medical University, filling the gap in the adult comprehensive clinic in the field of TSC diagnosis and treatment.
On May 15, the first multidisciplinary adult general clinic for tuberous sclerosis (TSC) in mainland my country officially opened at the First Affiliated Hospital of Guangzhou Medical University. established.
Multisystem involvement of tuberous sclerosis complex with diverse symptoms
Tuberous Sclerosis Complex (TSC) is an autosomal multisystem involvement Dominant genetic disease is a rare disease listed in the first batch of rare diseases in my country. May 15th is International Tuberous Sclerosis (TSC) Care Day.
The clinical symptoms of tuberous sclerosis complex are diverse and change with age. According to Professor Liu Jie, the head of the clinic and the deputy chief physician of the Department of Respiratory Medicine of the First Hospital of Guangzhou Medical University, tuberous sclerosis is a genetic disease, and some patients have some developmental abnormalities during the fetus, such as rhabdomyomas of the heart; Convulsions and epilepsy appear around the age of two or three. After entering kindergarten, there may be a rash on the face and mental retardation. “Facial rash, mental retardation, and epilepsy are the typical ‘triads’ of this rare disease. ‘”.
In adolescence, multiple organ tumors may appear in patients with tuberous sclerosis complex. For example, kidney tumors may appear around the age of 12, and after the age of 16, pulmonary lymphangiomyomas may appear in female patients, showing Difficulty breathing, coughing, ruptured bullae and other symptoms, “they are mainly troubled by lung, kidney, skin tumor problems, and neurological problems such as epilepsy, most of the patients can reach a relatively stable state after years of treatment.”
In my country, there are more than ten general outpatient clinics for children’s TSC, most of which are located in neurology departments or children’s hospitals, but there is still a blank for adult general outpatient clinics for patients over 14 years old. Liu Jie said that this time in The TSC multidisciplinary adult clinic established in Guangzhou has filled this gap.
The current diagnoses are just the “tip of the iceberg”
“Tube sclerosis is a lifelong disease, and many children grow up without it. Corresponding outpatient clinics provide diagnosis and treatment for them, and many adult patients have tossed between different specialized outpatient clinics because they could not find a comprehensive clinic for this disease. After a long time, many patients lost their confidence. The incidence of sclerosis is relatively high among rare diseases, and the current confirmed cases are only the “tip of the iceberg”, and there are still many potential patients who need specialized comprehensive outpatient clinics.
Based on the estimated incidence of 1/6000-1/10000 published in Europe and the United States, the number of TSC patients in China is estimated to exceed 170,000. Or decades of undiagnosed.
Yuan Bixia, vice president of Beijing Bowknot Tuberous Sclerosis Rare Disease Care Center, is a parent of children with TSC. She introduced that there are more than 4,000 patients in the patient group of the center, and she has been in contact with many patients. The children and their parents later believed that the TSC outpatient clinic was of great significance to the patients.
She introduced that a patient’s kidney tumor grew to more than 20 cm, and hemorrhage occurred, which was life-threatening. “If we can diagnose and find the cause earlier, we can control it earlier, and prevent the disease. allow the disease to progress to life-threatening levels.”
Liu Jie introduced that in the TSC special outpatient clinic, TSC patients can get the joint diagnosis and treatment of multidisciplinary experts in the shortest time, obtain the best guided treatment plan, and get a detailed follow-up plan to help patients Chronic disease management. The TSC special disease clinic can also open a green channel for examinations for patients, reducing the time that patients who seek medical treatment stay in Guangzhou and their economic burden.
There is no cure, but there are drugs to control the disease
For TSC patients, the disease cannot be cured, but there are currently drugs to control the disease. However, the issues of drug purchase channels and medical insurance coverage have yet to be resolved.
Yuan Bixia introduced that there are currently two main drugs for TSC treatment. One is a drug that suppresses epilepsy. Previously, it was only available overseas. Last year, a generic drug was launched in China, but it has not yet entered the hospital; One is a tumor-suppressing drug, but when it is used in TSC patients, it is an over-the-counter drug, and there is no way to include it in medical insurance.
“All our patients need lifelong medication, but both drugs can only be paid for by themselves.” Yuan Bixia introduced that her daughter is a TSC patient, and the annual drug cost is about 50,000 yuan, not including The cost of periodic review.
Liu Jinzhu, the director of the Beijing Bow-Tie Tuberous Sclerosis Rare Disease Care Center, is also a tuberous sclerosis patient. He only found out when his child had epilepsy and was diagnosed with TSC. A TSC patient. Liu Jinzhu’s condition was relatively mild. After taking medicine at the age of 38, after more than ten years of treatment, the rash that appeared in childhood has basically subsided, but tumors still occurred in multiple organs such as kidneys. His child’s condition is relatively mild, and the annual medical expenses are also about 50,000 yuan.
“Actually, our tuberous sclerosis is a relatively lucky rare disease. Although it cannot be cured, there are ways to treat it. If the main first-line drugs can be covered by medical insurance, we will More patients can benefit, they can live longer, and their quality of life will be better,” Yuan Bixia said.
Written by: Southern Metropolis reporter Li Wen