Suggestions for improving diagnosis and management of neurofibromatosis type 1 in China
10.3760/cma.j.cn114453-20221020-00328
- VernacularTitle:改善和提高我国Ⅰ型神经纤维瘤病诊疗水平的几点措施与建议
- Author:
Qingfeng LI
1
;
Zhichao WANG
;
Chengjiang WEI
Author Information
1. 上海交通大学医学院附属第九人民医院整复外科，上海 200011
- Keywords:
Neurofibromatosis 1;
Drug therapy;
Information communication;
Long-term care;
Standard diagnosis, treatment, and research system
- From:
Chinese Journal of Plastic Surgery
2022;38(11):1199-1202
- CountryChina
- Language:Chinese
-
Abstract:
The recent emergence of targeted therapies for neurofibromatosis type 1 (NF1) brings a new dawn for these patients and contributes to an increase in the number of patients seeking medical treatment, which was a great unmet medical need in the past. It puts forward higher requirement for the clinical standard diagnosis and treatment of NF1. As a rare autosomal dominant genetic disorder, the clinical manifestations of NF1 are various and could involve multiple organs and systems, which requires Multi-Disciplinary Treatment (MDT). However, as NF1 is a relatively rare disease and has insufficient attention in the past, current understanding for NF1 is still limited. Standardized multi-disciplinary consultation has not been established nationwide. Furthermore, due to the lack of unified patient registration, evaluation and follow-up system, it is difficult to conduct large-scale clinical cohort studies based on Chinese population. This article reviewed current challenges in the diagnosis, management, and research on NF1 in China. Meanwhile, we proposed several suggestions to improve the diagnosis and treatment abilities based on our long-term experience on NF1, to establish a high-quality Chinese NF1 diagnosis, management, and research system in the future.
