Joint hypermobility (JH) is common in the general population; however, in a subset of individuals, it progresses to a symptomatic disorder associated with chronic pain, fatigue, and functional impairment. Early recognition in primary care is important for distinguishing between benign hypermobility and connective tissue disorders that require close monitoring.
JH refers to an increased range of motion in the joints resulting from inherited alterations in collagen structure and production. This condition follows an autosomal dominant inheritance pattern, meaning that approximately 50% of the children of an affected parent may inherit this trait.
Changes in collagen content cause thinner and less rigid fibers, thereby increasing tissue elasticity and allowing excessive joint mobility.
Prevalence, Symptoms, and Diagnosis
JH affects an estimated 10%-30% of the global population. It is more common in women and children and tends to decrease with age.
Only a small proportion of individuals develop hypermobility symptoms . Approximately 1%-4% of the general population meets the criteria for symptomatic JH, which may correspond to hypermobile Ehlers-Danlos syndrome when pain, fatigue, and functional impairment are present.
Hypermobile Ehlers-Danlos syndrome is considered the most common hereditary systemic connective tissue disorder, affecting an estimated 17 million individuals in Europe and 255 million people worldwide.
The primary symptom is chronic joint or muscle pain, often beginning during childhood or adolescence and most often affecting the lower limbs.
Other common manifestations include joint clicking, fatigue, and recurrent musculoskeletal injuries, such as sprains, tendinitis, capsulitis, or joint dislocations. Spinal abnormalities, such as kyphoscoliosis and flat feet, may also occur along with joint effusions.
Other systemic manifestations may include easy bruising without trauma, varicose veins, hernias, anxiety, depression, and long-term development of osteoarthritis or osteoporosis.
These symptoms can significantly impair quality of life and limit daily activities.
Symptoms often develop in various stages over time.
- Hypermobility predominates during childhood. Individuals may show marked flexibility or contortion abilities and experience frequent sprains or dislocations. Some patients may also report lower limb pain, fatigue, or urinary dysfunction.
- Between 20 and 40 years of age, chronic pain often develops, which is characterized by progressive pain, increasing fatigue, paresthesia, gastrointestinal symptoms, pelvic dysfunction, fear of movement, and orthostatic intolerance.
- Subsequently, the stiffness phase sets in with reduced functional impairment due to persistent pain, fatigue, muscle weakness, and earlier injuries and joint alterations.
Primary care physicians play a key role in differentiating benign hyperlaxity from JH syndrome and coordinating its comprehensive and interdisciplinary management.
Diagnosis relies primarily on clinical history, family history, and targeted physical examination.
The Beighton score is a 9-point, five-maneuver clinical screening tool for generalized JH. It awards points (maximum 1 per side and 1 for the trunk) for the following: passive fifth metacarpophalangeal joint extension (≥ 90°), passive thumb apposition to the forearm, elbow hyperextension (≥ 10°), knee hyperextension (≥ 10°), and forward bending with the palms on the floor.
A score of ≥ 4 in adults or ≥ 6 in children is considered positive for generalized JH.
Previous diagnostic approaches used the Brighton criteria, which combined hypermobility with additional clinical features. These criteria have since been revised, and current diagnostic frameworks require the presence of JH together with other persistent systemic manifestations.
When stricter criteria are met, the diagnosis may correspond to hypermobile Ehlers-Danlos syndrome, as defined in the 2017 International Classification.
Associated Conditions and Management
Many patients present with added conditions that are not diagnostic criteria but occur often, such as JH, skin manifestations, hernias, prolapses, palate alterations, family history, and musculoskeletal complications; in addition, other connective tissue disorders that present with JH are excluded.
These include sleep disorders, chronic fatigue, postural orthostatic tachycardia syndrome, functional gastrointestinal disorders, dysautonomia, anxiety, and depression.
Lack of awareness of the condition often leads patients to consult multiple specialists before receiving an accurate diagnosis, contributing to frustration and reduced quality of life.
There is currently no curative treatment for JHS. Management focuses on symptom control and prevention of complications. The key components of management include the following:
- Patient education informs patients about the chronic but generally benign nature of the condition, lifestyle adaptation, and avoidance of joint trauma.
- Postural hygiene and muscle-strengthening exercises are recommended to compensate for ligament laxity. Low-impact physical activities, such as swimming or Pilates, may help improve joint stability.
- Symptomatic treatment may include analgesics or anti-inflammatory drugs for acute pain episodes, along with referral to physiotherapy for proprioceptive rehabilitation.
- Physiotherapy programs aim to reduce pain and swelling, strengthen the surrounding muscles, improve joint stability, and allow patients to maintain physical activity and take part in sports.
- Supportive devices, such as ankle braces, wrist supports, and orthotic insoles, may be useful in selected cases of instability or flat feet.
- Referral to specialists should be considered when diagnostic uncertainty exists, when there is suspicion of more complex connective tissue disorders, such as Ehlers-Danlos syndrome or Marfan syndrome, or when patients experience refractory pain or recurrent complications such as frequent dislocations or tendon injuries.
Early recognition and management in primary care may help improve the quality of life and reduce long-term complications in affected individuals.
This article is the result of an editorial collaboration between the Spanish Society of General and Family Physicians (SEMG) and Univadis Spain, part of the Medscape Professional Network.
The conflicts of interest of the authors of the articles can be found in the original publications.
Bastida Calvo is a specialist in Family and Community Medicine at Conselleria de Sanidade (Galicia’s Health Department, Santiago de Compostela in Galicia, Spain) and coordinator of the Osteoarthritis-Osteoporosis Working Group of SEMG.
This story was translated from Univadis Spain.
