In the past, there have been several different terms used to describe patients with joint hypermobility (JH) and Ehlers-Danlos syndrome (EDS). A new framework for classification was proposed by the Ehlers-Danlos Society in 2017 for patients with joint hypermobility syndrome (JHS) and hypermobile EDS (hEDS). This classification system groups patients with JH into a continuum ranging from asymptomatic JH to hEDS, with hypermobile spectrum disorders (HSDs) in the middle.
What is hEDS?
hEDS, which was also known as EDS type 3 or EDS-hypermobile type (EDS-HT), is the most common form of EDS. Its estimated prevalence is between one in 5,000 and one in 20,000 people worldwide. Symptoms range across a wide spectrum and include joint hypermobility, stretchy and “velvety” skin, chronic pain in the bones and muscles, osteoporosis, osteoarthritis, gastrointestinal (GI) tract issues, heart and blood vessel issues, and female-related health issues such as painful menstruation and pregnancy complications.
How do doctors diagnose hEDS?
There currently is no definitive genetic test to confirm hEDS. So, doctors reach a diagnosis through clinical evaluation. Patients must meet three specific criteria for the classification of hEDS, including:
- a positive test for generalized JH (GJH)
- features of inherited connective tissue disorders
- not meet criteria for any other disorders with similar symptoms
To meet criteria 1 of a positive test for GJH, patients must have a Beighton score of 6 or higher if they are children who have not yet reached puberty, 5 or higher if they are adults, or 4 or higher if they are older than age 50. If patients are one point lower than the necessary score for their age, a five-point questionnaire about a patient’s joint history also can be incorporated. Having a positive score on the questionnaire — meaning the answers are positive on at least two out of the five questions — along with a Beighton score one point below the cutoff can still count as a diagnosis of GJH. For individuals with lower Beighton scores, physicians also can expand the list to include other joints. These could include the shoulder, hip, foot, wrist, ankle, and jaw joints.
For criteria 2, patients are required to meet two or more of the following conditions: have manifestations of more generalized connective tissue issues outside of just the joints, such as the skin; a family history with one or more relatives meeting the criteria for hEDS; and issues with the musculoskeletal system such as chronic pain and frequent dislocations.
Criteria 3 states that patients must not have any symptoms that would point to other related disorders. Such disorders would include other forms of EDS, acquired connective tissue disorders like lupus and rheumatoid arthritis, and neuromuscular disorders. Doctors can rule out these other disorders using medical and family history detailing the spectrum of symptoms, physical examinations, and genetic testing.
What is HSD?
HSD is a group of disorders that all involve joint hypermobility. The disorders also often involve the musculoskeletal system and may cause issues such as neurodevelopmental problems, joint pain, degeneration of joints and bones, and problems with proprioception — the ability to know where your body and limbs are in space. Doctors diagnose patients with HSD if they fulfill some but not all the criteria for hEDS.
The full spectrum ranges from patients with asymptomatic JH on one end to hEDS on the other. Between the two endpoints, HSD includes several similar disorders. These are generalized HSD (G-HSD), historical HSD (H-HSD), peripheral HSD (P-HSD), and localized HSD (L-HSD). All of these classifications must include one or more musculoskeletal manifestations.
G-HSD involves a positive Beighton scale score indicating widespread joint hypermobility.
H-HSD is for patients who fail to get a necessary Beighton scale score but have a prior history of G-HSD.
Patients who only have hypermobile joints in the arms and legs are classified as having P-HSD.
If the disease affects only a single joint or small group of joints, then patients are classified as having L-HSD.
What is asymptomatic JH?
Asymptomatic JH incorporates patients who have joint hypermobility but do not have any musculoskeletal involvement of the disease. It can be generalized (GJH), peripheral (PJH), or localized (LJH), depending on which and how many joints are hypermobile. Asymptomatic JH may run in families and may even occur in healthy relatives of patients with hEDS.
Last updated: Oct. 28, 2020
Ehlers-Danlos News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health providers with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
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