Progress in Clinical Diagnosis and Management of Hypermobility Spectrum Disorders
10.12376/j.issn.2097-0501.2023.04.021
- VernacularTitle:过度活动谱系障碍诊疗的研究进展
- Author:
Kexin XU
1
,
2
,
3
;
Guozhuang LI
1
,
2
,
3
;
Zhihong WU
3
,
4
,
5
,
6
;
Jianguo ZHANG
1
,
2
,
3
,
6
;
Nan WU
1
,
2
,
3
,
6
Author Information
1. Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
2. Peking Union Medical College, Beijing 100730, China.Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Key Laboratory of Big Data for Spinal Deformities, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
3. Peking Union Medical College, Beijing 100730, China.
4. Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Key Laboratory of Big Data for Spinal Deformities, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
5. Peking Union Medical College, Beijing 100730, China.Medical Research Center, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
6. Peking Union Medical College, Beijing 100730, China.State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
- Collective Name:DISCO (DECIPHERING DISORDERS INVOLVING SCOLIOSIS & OMORBIDITIES) STUDY GROUP
- Publication Type:Review
- Keywords:
joint hypermobility;
hypermobility spectrum disorders;
the Ehlers-Danlos syndromes;
multidi-sciplinary team approach
- From:
JOURNAL OF RARE DISEASES
2023;2(4):633-640
- CountryChina
- Language:Chinese
-
Abstract:
Joint hypermobility (JH) refers to the ability of joints to move beyond the 'normal' limits, which can be either physiologic or pathologic. Hypermobility spectrum disorders (HSDs) are a group of joint hypermobility-related clinical conditions. HSDs primarily affects the musculoskeletal system, predisposing the joints to subluxations or dislocations, and chronic pain. HSDs, however, may also manifest with symptoms such as fatigue, gastrointestinal disorders, and autonomic nervous system dysfunction, indicating multisystemic involvement that may impact psychological well-being. Although HSDs is usually not life-threatening, it is associated with poor quality of life. Currently, the molecular basis of HSDs remains unclear. The diagnosis of HSDs requires comprehensive medical evaluation and assessment. The main differential conditions/diagnoses include asymptomatic joint hypermobility, hypermobile Ehlers-Danlos syndrome (hEDS), and various musculoskeletal inflammatory or degenerative diseases. Asymptomatic joint hypermobility, HSDs, and hEDS are now viewed as a continuous spectrum. Due to limited awareness of the condition, individuals with asymptomatic joint hypermobility may experience overdiagnosis and overtreatment, while patients with HSDs may encounter prolonged misdiagnoses or underdiagnoses. Furthermore, individuals presenting with psychological symptoms may have all their somatic complaints erroneously attributed to psychological factors. These factors collectively impose unnecessary psychological and economic burdens on patients and their families. The multi-systemic and heterogeneous nature of HSDs necessitates a multi-disciplinary team (MDT) approach with a case manager in both the diagnosis and management processes. Additionally, patient education and self-management play pivotal roles in optimizing chronic disease management. This review aims to summarize the current state of diagnosis and management of HSDs and raise awareness of HSDs, providing a basis for the establishment and refinement of a multi-disciplinary diagnostic and management framework for HSDs in China.