Joint Hypermobility Syndrome: Symptoms, Causes, Treatment

What are the symptoms of joint hypermobility syndrome?

Joint hypermobility syndrome (JHS), also known as hypermobile Ehlers-Danlos syndrome (hEDS), is characterized by joints that move beyond the normal range expected for a particular joint. Some common symptoms of JHS include:

1. Joint laxity: Excessive joint movement beyond the normal range, which can lead to joint pain and instability.
2. Joint pain: Often chronic and widespread, affecting multiple joints, which may worsen with physical activity or prolonged periods of standing or sitting.
3. Joint instability: Feeling that joints are unstable or prone to dislocation or subluxation (partial dislocation).
4. Muscle weakness: Weakness in the muscles supporting hypermobile joints, which can contribute to pain and instability.
5. Fatigue: Feeling tired or lacking energy, which can be related to chronic pain and joint instability.
6. Joint stiffness: Especially after periods of rest or in the morning, despite the joint’s hypermobility.
7. Soft tissue injuries: Such as sprains, strains, and tendonitis, due to the increased stress on ligaments and tendons supporting hypermobile joints.
8. Digestive issues: Some individuals with JHS may experience gastrointestinal symptoms, such as irritable bowel syndrome (IBS).
9. Anxiety and depression: Commonly associated with chronic pain conditions like JHS.
10. Skin changes: Some people with JHS may have soft, velvety skin that is more prone to bruising or scarring.

It’s important to note that symptoms can vary widely among individuals, and not everyone with joint hypermobility experiences all of these symptoms. If you suspect you have joint hypermobility syndrome or are experiencing related symptoms, it’s advisable to consult with a healthcare professional for proper evaluation and management.

What are the causes of joint hypermobility syndrome?

Joint hypermobility syndrome (JHS) is thought to be primarily due to genetic factors that affect the structure and function of connective tissues, particularly collagen. The exact causes of JHS are not fully understood, but several factors contribute to its development:

1. Genetic predisposition: JHS tends to run in families, suggesting a genetic component. Mutations or variations in genes involved in collagen synthesis or other connective tissue proteins may predispose individuals to hypermobility.
2. Connective tissue abnormalities: Collagen is a key protein in connective tissues such as ligaments, tendons, and skin. Abnormalities in collagen or other connective tissue proteins can lead to increased joint laxity and instability seen in JHS.
3. Joint structure: Differences in joint shape or alignment may contribute to joint hypermobility. Some individuals may have naturally shallower joint sockets or more flexible joint capsules, allowing for greater range of motion.
4. Hormonal factors: Hormones such as estrogen are known to affect collagen metabolism and joint laxity. Changes in hormone levels, such as during puberty, pregnancy, or menstrual cycles, can influence joint hypermobility in some individuals.
5. Neuromuscular factors: Dysfunction in the neuromuscular control of joints can contribute to instability and hypermobility. Weakness or poor coordination of muscles around hypermobile joints may exacerbate symptoms.
6. Environmental factors: Certain environmental factors, such as repetitive stress or overuse of joints, can aggravate symptoms in individuals with JHS. Injury or trauma to joints can also lead to increased laxity and instability.

It’s important to note that while these factors contribute to the development of JHS, the severity and presentation of symptoms can vary widely among individuals. A thorough evaluation by a healthcare professional, often involving a specialist in rheumatology or genetics, can help diagnose and manage joint hypermobility syndrome effectively.

How is the diagnosis of joint hypermobility syndrome made?

The diagnosis of Joint Hypermobility Syndrome (JHS) is typically made through a combination of clinical evaluation, physical examination, and diagnostic tests. Here are the steps involved in making a diagnosis:

1. Clinical evaluation: A healthcare provider will perform a thorough medical history and physical examination to assess the patient’s joint mobility, flexibility, and stability. They will also evaluate the patient’s overall health, medical history, and family history.
2. Beighton Criteria: The Beighton Criteria is a set of nine diagnostic criteria that are commonly used to diagnose JHS. The criteria assess the range of motion in the joints, particularly in the hands, wrists, knees, elbows, and spine. The patient is scored based on their ability to perform specific maneuvers, such as:
   • Can you extend your fingers beyond 90 degrees?
   • Can you move your little finger backwards towards your wrist?
   • Can you move your thumb beyond your wrist?
   • Can you touch your nose with your tongue?
   • Can you place your palms flat on the floor without bending your knees?
   • Can you bend forward at the waist and touch your toes?
   • Can you bend your arms behind your back and touch your shoulders?
   • Can you bend your knees more than 10 degrees when standing or sitting?
   • Can you extend your elbows beyond 10 degrees?
3. Physical examination: The healthcare provider will perform a physical examination to assess joint laxity (looseness) and evaluate for any signs of joint instability or subluxations (partial dislocations).
4. Imaging studies: In some cases, imaging studies such as X-rays or magnetic resonance imaging (MRI) may be ordered to rule out other conditions that may be causing similar symptoms.
5. Laboratory tests: Laboratory tests may be ordered to rule out other conditions that can cause joint hypermobility, such as rheumatoid arthritis or lupus.
6. Differential diagnosis: The healthcare provider will also consider other conditions that can cause joint hypermobility, such as Marfan syndrome, Ehlers-Danlos syndrome, or osteogenesis imperfecta.
7. Final diagnosis: Based on the results of the clinical evaluation, physical examination, imaging studies, laboratory tests, and differential diagnosis, a diagnosis of Joint Hypermobility Syndrome (JHS) is made.

It’s important to note that JHS is a clinical diagnosis, and there is no single diagnostic test that can confirm the condition. The diagnosis is based on a combination of clinical findings and a thorough evaluation by a healthcare provider.

What is the treatment for joint hypermobility syndrome?

The treatment for joint hypermobility syndrome (JHS) focuses on managing symptoms and improving quality of life. Here are some common approaches:

1. Physical Therapy: Strengthening exercises to stabilize joints and improve muscle support around the joints.
2. Occupational Therapy: Techniques to protect joints during daily activities and prevent injuries.
3. Pain Management: Using medications such as nonsteroidal anti-inflammatory drugs (NSAIDs) or other pain relievers to manage pain and inflammation.
4. Orthotics: Using supportive devices like braces or splints to stabilize joints, particularly in the hands and wrists.
5. Education and Lifestyle Modifications: Learning about joint protection techniques, pacing activities, and avoiding overextension of joints.
6. Psychological Support: Counseling or therapy to help manage the emotional aspects of chronic pain and physical limitations.
7. Hydrotherapy: Gentle exercises in warm water to improve strength and flexibility without straining joints.
8. Medication: In some cases, medications to manage symptoms such as muscle relaxants or low-dose antidepressants for pain modulation.
9. Joint Protection: Avoiding activities that put excessive strain on joints and practicing proper body mechanics.
10. Management of Associated Conditions: Addressing any comorbid conditions such as anxiety, depression, or gastrointestinal issues that may accompany JHS.

Treatment plans are typically tailored to the individual’s symptoms and functional limitations, often involving a multidisciplinary approach to provide comprehensive care.