Deep 8 degree rare diseases 5 | Hangzhou publishes the top ten rare diseases for the first time, and you may not have heard of their names

The 10th China Rare Disease Summit Forum was held in Hangzhou from September 10th to 12th, and the "Phasic Report on the Research Project on the Living Conditions and Disease Burden of Rare Disease Patients in Zhejiang Province" was released at the meeting.

This report project is the first in China to conduct an in-depth analysis of 121 rare diseases through provincial medical insurance big data. The purpose is to understand the survival status of rare disease patients in Zhejiang Province, summarize experience and form policy recommendations, so as to improve the quality of life of rare disease patients.

The incidence rate of middle-aged and elderly people over 60 is higher

Male patients are higher than female patients

The project analyzed the medical insurance hospitalization data of patients with rare diseases in Zhejiang Province from 2017 to 2020, covering 389 hospitals in 11 prefecture-level cities in Zhejiang Province, involving a total of 37,213 patients and 67,374 hospitalization data.

Analysis shows that the number of hospitalized patients with rare diseases in Zhejiang Province has continued to grow in recent years, from 7,581 in 2017 to 13,517 in 2020; the number of rare diseases has increased from 84 in 2017 to 110 in 2020.

▲The trend of the number of inpatients with rare diseases in Zhejiang Province over the years

The reason for this may be that the province's clinical diagnostic capabilities for rare diseases have improved in recent years, and patients' disease awareness has continued to increase.

Spectrum of rare diseases in adults and children

There are obvious differences

The number of hospitalized patients with the top 10 rare diseases accounted for two-thirds of the 121 rare diseases in Zhejiang Province.

The top ten are: idiopathic cardiomyopathy, amyotrophic lateral sclerosis, systemic sclerosis, retinitis pigmentosa, neuromyelitis optica, multiple sclerosis, idiopathic pulmonary fibrosis, autoimmune encephalitis, hepatolenticular degeneration, and hemophilia.

Among them, there are obvious differences in the disease spectrum between adult patients with rare diseases and children with rare diseases (Note: adults are defined as 15 years old and above, and children are defined as 0-14 years old).

▲Summary of adult and pediatric patients, common and rare diseases have obvious differences

The concentration of hospitals for diagnosis and treatment of rare diseases is high. In Zhejiang Province, inpatients with rare diseases are mainly treated in hospitals in Hangzhou, accounting for 40% of the province. Among the 389 hospitals, the top 15 hospitals account for nearly half of the inpatient visits.

▲Distribution of hospitals for hospitalization due to rare diseases from 2017 to 2020 (number of hospitalizations)

▲Distribution of hospitals where patients with rare diseases were hospitalized from 2017 to 2020 (number of hospitalizations)

The inpatient hospitals for the top ten rare diseases in children are concentrated in the Children's Hospital Affiliated to Zhejiang University School of Medicine (diseases include: coronary artery ectasia, primary combined immunodeficiency, progressive muscular dystrophy, hepatolenticular degeneration, autoimmune encephalitis, tuberous sclerosis, spinal muscular atrophy, and Langerhans' histiocytosis).

▲Distribution of hospitals where children were hospitalized from 2017 to 2020 (number of hospitalizations)

The proportion of hospitalization in secondary hospitals has increased

In the future, we will further explore the construction of hierarchical diagnosis and treatment

According to statistics, the proportion of patients with rare diseases hospitalized in secondary hospitals has increased in recent years. Taking amyotrophic lateral sclerosis as an example, from 2017 to 2020, the number of patients with this rare disease hospitalized in secondary hospitals accounted for 35%, which indirectly reflects that the ability of primary medical institutions to identify and diagnose and treat rare diseases has improved. At the same time, it also shows the importance of the rare disease diagnosis and treatment collaboration network.

Zhejiang established

The first 10 rare diseases

Specialized disease diagnosis and treatment expert group

In order to further play the role of the rare disease diagnosis and treatment cooperation network in our province, promote hierarchical diagnosis and treatment, and improve the level of rare disease diagnosis and treatment services, in June 2021, the Provincial Health Commission decided to establish a provincial rare disease diagnosis and treatment expert group (first batch). Five hospitals with strong diagnosis and treatment capabilities and a large number of diagnosis and treatment cases were selected as the first batch of 10 rare disease diagnosis and treatment expert group leader units. See the table for the specific list.

Orange Persimmon Interactive reporter Yu Qianqian

Correspondent Fang Xuluqing