China issues new rare disease guidelines

The National Health Commission on Thursday released a second batch of diagnosis and treatment guidelines for 86 rare diseases.

The batch covers conditions including achondroplasia, a disorder of bone growth that can cause dwarfism; acquired hemophilia; and acromegaly, a hormonal disorder that can lead to the enlargement of body parts.

China has about 20 million patients with rare diseases, with more than 200,000 new cases each year.

The first batch of treatment guidelines was published in 2019 and covered 121 rare diseases.

The Peking Union Medical College Hospital said Thursday that the new guidelines were jointly compiled by the hospital and the China Alliance for Rare Disease at the commission's request.

"These guidelines have comprehensively outlined the clinical features, diagnostic standards, treatment approaches and long-term management strategies for 86 rare diseases, serving as a valuable reference for medical workers," the hospital said in a statement.

"Their implementation is expected to minimize diagnostic errors, optimize care and improve patient outcomes," it said.