Joint hypermobility syndrome: Introduction and Diagnosis case presentation A healthy, 12-year-old female presents with generalized joint pain.
Joint hypermobility syndrome: and Diagnosis case presentation A healthy, 12-year-old female presents with generalized joint pain. She reports being more flexible than her friends naturally. The patient did have a prior laboratory evaluation with a normal CBC, CMP, Lyme titer, ESR and CRP.
On examination, she has a positive sulcus sign and her Beighton criteria score was 6/9. She denies any gastrointestinal, genitourinary or cardiovascular history. Which of the following is the most likely diagnosis?
Ehlers-Danlos hypermobile type B. Benign Joint Hypermobility Syndrome C. Vascular type Ehlers-Danlos D.
Kyphoscoliotic Ehlers-Danlos introduction Hypermobility syndrome, also known as joint hypermobility syndrome (JHS), refers to a combination of signs and symptoms incorporating multiple body systems, including the musculoskeletal, cardiovascular, gastrointestinal, urogenital and neurological/autonomic systems, where joint hypermobility is a key feature. Benign joint hypermobility syndrome (BJHS), or generalized hypermobility disorder (GHD) is characterized by generalized ligamentous laxity and the presence of musculoskeletal pain without signs of systemic rheumatologic disease. Originally considered as two distinct conditions, many clinicians and researchers have interpreted joint hypermobility syndrome (JHS) and Ehlers Danlos Syndrome hypermobility type (hEDS) as an expression of the same disorder.
It is important to notice that JHS and hEDS constitute 2 distinct heritable connective tissue disorders but most researchers as of 2017 view these as interchangeable. Although the epidemiology of JHS/hEDS has not been thoroughly explored, the prevalence in the general population has been estimated between 0.75% and 2% with women being much more frequently affected than men. Ehlers-Danlos syndrome itself can be challenging to classify and has 13 types.
If you are experiencing symptoms that may be related to joint hypermobility syndrome, it is important to see a sports medicine physician. Early evaluation and treatment typically lead to better outcomes. Do not ignore pain or symptoms that are limiting your activity.
*This article is for educational purposes only and does not substitute for professional medical advice. Always consult a qualified healthcare provider.*
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