Program for early diagnosis and treatment of rare disease
China's first intelligent medicine program related to Fabry disease has been initiated in Shanghai to boost the early screening, diagnosis and treatment of the rare disease.
Patient database, training of clinical medics, a system to support rare disease diagnosis and treatment, as well as AI-based intelligent tool development would all be included in the program, to enhance domestic cardiologists' knowledge of Fabry disease and thus benefit patients, experts said on Friday.
Fabry disease is an inherited condition, which affects the heart, kidneys, brain, central nervous system and skin. If not treated, it can reduce the life span of male patients by 15 to 20 years, while it is six to 10 years for female patients.
The heart is most damaged by the disease. About 69 percent of patients with Fabry disease have complications of the heart and heart problems are the top cause of death for Fabry disease sufferers.
Since the disease is rare, many grassroots medics have a poor awareness of it. Patients are likely to be misdiagnosed or their diagnosis delayed.
An intelligent diagnosis and treatment program on Fabry disease kicks off in Shanghai.
"The screening and diagnosis rate of Fabry disease in China is only 3 percent," said Dr Ge Junbo from Zhongshan Hospital and the chairman of China Cardiovascular Association. "Misdiagnosis and a delay in diagnosis makes patients fail to receive the proper treatment in time. Along with the worsening symptoms, many patients start to suffer organ failure and even face the risk of death.
"If not treated, patients can suffer heart failure or cardiac hypertrophy after 30 years old and face the risk of cardiac arrest. Their average age is only 50 years old," Ge said. "This program is to increase cardiologists' knowledge of the disease and achieve a standardized treatment."
Experts said 177 hospitals in the nation will participate in the Fabry disease screening network and cardiologists involved in Fabry disease screening would also increase to over 400 nationwide.
Moreover, experts will use AI and big data technologies to develop intelligent tools to enhance the accuracy and efficiency of screening to assist clinical diagnosis.
