Recently, the "Rare Disease Center," a collaborative effort between Baidu Health and the China Rare Disease Alliance, has officially upgraded and launched. This center is committed to enhancing public awareness of rare diseases, meeting the diverse needs of rare disease patients in China, and providing functions such as rare disease queries, disease knowledge dissemination, and staying informed about cutting-edge developments. Taking Fabry disease and Hereditary Angioedema (HAE) as examples, users can utilize screening tools provided by Takeda China to enhance early screening and diagnosis rates for suspected populations, further promoting standardized diagnosis and treatment of rare diseases, benefiting more patients.
Both Fabry disease and HAE were among the first batch of diseases listed in the "Rare Disease Catalog" in 2018. Fabry disease is a rare X-linked dominant inherited lysosomal storage disorder that often leads to dysfunction in cellular tissues and organs. It affects multiple organs, including the nervous system, kidneys, heart, skin, gastrointestinal tract, and eyes, and can even cause life-threatening complications. As a genetic disease, male patients with Fabry disease experience a reduced life expectancy of approximately 15-20 years, while female patients face a reduction of about 6-10 years. Due to the diverse and nonspecific clinical manifestations of Fabry disease, patients are easily misdiagnosed, facing long-standing challenges in early identification and diagnosis. In China, the overall screening and diagnosis rate for Fabry disease is only 3%.
In comparison, the diagnostic rate for HAE in China is even lower, less than 2.5%. HAE, as a rare genetic disease, has a global prevalence of about 1 in 50,000, with 75% of patients experiencing their first episode between the ages of 10 and 30. Due to the lack of C1 esterase inhibitor (C1INH) or a defective function in HAE patients, acute edema occurs in various parts of the body, including limbs, face, genitalia, respiratory and gastrointestinal mucosa, often without warning signs. Clinical symptoms overlap with other diseases, leading to frequent neglect and misdiagnosis.
The upgraded "Rare Disease Center" now features functions such as rare disease queries, disease knowledge dissemination, and staying informed about cutting-edge developments. On one hand, it enhances public awareness of Fabry disease and HAE; on the other hand, it helps the public achieve "early screening, early detection, early treatment" when facing the threat of diseases, thereby raising diagnostic awareness.
