Joint Hypermobility Syndrome (JHS), sometimes referred to as hypermobile Ehlers-Danlos Syndrome (hEDS), is a connective tissue disorder characterized by joints that move beyond the normal range of motion. While some degree of flexibility can be harmless or even beneficial—especially in athletes, dancers, or gymnasts—JHS goes beyond simple flexibility. It can lead to chronic pain, joint instability, fatigue, and a variety of systemic health issues. Understanding JHS is essential not only for managing symptoms but also for preventing long-term complications.
In this article, we will explore the key symptoms, how JHS is diagnosed, its association with other health conditions, the challenges of daily life for those affected, and long-term health implications.
Symptoms of Joint Hypermobility Syndrome
The hallmark symptom of JHS is, as the name suggests, joint hypermobility. This means the joints can move beyond the typical range of motion. However, hypermobility on its own does not always indicate a medical issue. The diagnosis of JHS applies when joint hypermobility is accompanied by musculoskeletal pain and other systemic symptoms.
Common symptoms include:
- Joint pain: Often widespread and chronic, particularly after physical activity or prolonged periods of inactivity.
- Frequent joint dislocations and subluxations: Especially in the shoulders, knees, fingers, and hips.
- Soft, stretchy skin: Some individuals may have skin that is more elastic than normal, although this is less pronounced than in other types of Ehlers-Danlos Syndrome.
- Muscle fatigue and weakness: Even after minimal exertion, individuals may feel significant fatigue.
- Digestive issues: Including irritable bowel syndrome (IBS), bloating, and acid reflux.
- Dizziness and fainting: Often due to associated conditions like Postural Orthostatic Tachycardia Syndrome (POTS).
- Poor coordination and proprioception: Leading to frequent clumsiness or balance problems.
Symptoms often begin in childhood or adolescence but can worsen with age or after physical trauma. Because symptoms are varied and can mimic other conditions, many people with JHS are misdiagnosed or undiagnosed for years.
Diagnosis: Clinical Evaluation and Challenges
There is no single test that definitively diagnoses Joint Hypermobility Syndrome. Instead, healthcare providers rely on clinical criteria and a thorough medical history. The Beighton Scores is a commonly used screening tool that assesses joint hypermobility on a 9-point scale based on the flexibility of the elbows, knees, thumbs, pinky fingers, and the ability to bend forward.
To receive a diagnosis of JHS (or hypermobile Ehlers-Danlos Syndrome), a person typically must have:
- A high Beighton Score (usually 5 or more out of 9 in adults)
- Chronic widespread pain or recurrent joint dislocations
- A family history of hypermobility-related symptoms
- Exclusion of other connective tissue disorders (e.g., Marfan syndrome, other types of EDS)
Despite this framework, many physicians are unfamiliar with JHS, leading to underdiagnosis or misattribution of symptoms to psychosomatic causes. Some patients report being dismissed or told their pain is “just anxiety” or “normal growing pains,” especially during adolescence.
Associated Conditions and Comorbidities
JHS rarely occurs in isolation. It is often linked with a range of other medical issues, collectively referred to as comorbidities. Some of the most common include:
- Postural Orthostatic Tachycardia Syndrome (POTS): A condition affecting the autonomic nervous system, leading to dizziness, rapid heartbeat, and fatigue upon standing.
- Mast Cell Activation Syndrome (MCAS): Where mast cells release chemicals inappropriately, leading to allergic-like symptoms, gastrointestinal problems, and skin reactions.
- Fibromyalgia: A chronic condition characterized by widespread musculoskeletal pain, which can overlap with JHS symptoms.
- Temporomandibular Joint Disorders (TMJ): Causing jaw pain and difficulty with chewing.
- Anxiety and Depression: Chronic pain, fatigue, and years of misdiagnosis can significantly affect mental health.
The presence of multiple conditions can complicate diagnosis and treatment, as symptoms often overlap and exacerbate each other. A multidisciplinary approach—incorporating rheumatologists, cardiologists, physical therapists, and psychologists—is often necessary for effective care.
Living with Joint Hypermobility Syndrome
Daily life for someone with JHS can be unpredictable and challenging. Pain and fatigue may limit physical activity, making it difficult to maintain employment, attend school, or participate in social events. Many individuals require assistive devices like braces, canes, or even wheelchairs during flare-ups.
Physical therapy is a cornerstone of treatment. Tailored exercise programs focusing on strengthening muscles, improving joint stability, and enhancing proprioception can reduce pain and prevent injuries. However, overly aggressive or poorly designed physical therapy can worsen symptoms.
Other lifestyle modifications include:
- Pacing: Balancing activity with rest to avoid overexertion.
- Sleep hygiene: Since insomnia and poor sleep are common, structured routines can help improve rest.
- Dietary changes: Managing gastrointestinal symptoms through low-FODMAP or anti-inflammatory diets.
- Pain management: Through a combination of medications, physiotherapy, and sometimes cognitive behavioral therapy (CBT).
Support groups and online communities can also be valuable resources, providing education, emotional support, and practical tips.
Long-Term Health Implications
While Joint Hypermobility Syndrome is not life-threatening, its chronic nature and systemic involvement can lead to significant long-term challenges. These include:
- Progressive joint damage: Over time, repeated dislocations and microtrauma can lead to osteoarthritis and reduced mobility.
- Chronic pain: If not managed early, pain can become centralized and harder to treat.
- Cardiovascular issues: Including dysautonomia and, in some cases, mitral valve prolapse or aortic dilation.
- Psychological burden: Years of misdiagnosis, medical gaslighting, and functional limitations can lead to depression, anxiety, and even post-traumatic stress from medical trauma.
- Reduced quality of life: Due to mobility restrictions, persistent fatigue, and social isolation.
Early diagnosis and a comprehensive, individualized treatment plan can significantly mitigate these long-term effects. Educating healthcare professionals and increasing public awareness are crucial steps toward earlier intervention and better support.
