hypermobility syndrome

Hypermobility Syndrome: A Condition Characterized by Joint Hyperflexibility

Hypermobility syndrome, also known as joint hypermobility syndrome (JHS), is a condition where individuals experience pain and stiffness due to having extremely flexible joints. This condition affects the connective tissue that holds bones together, leading to an increased range of motion in the affected joints.

Key Characteristics:

• Joint Hyperflexibility: Individuals with hypermobility syndrome can move their joints beyond the normal range with little effort.
• Pain and Stiffness: The condition is often accompanied by pain and stiffness in the affected joints, which can be debilitating at times.
• Instability and Injury: The excessive flexibility of the joints can lead to joint instability, sprains, strains, subluxations, and dislocations.

Commonly Affected Joints:

• Elbows
• Wrists
• Fingers
• Knees

Causes and Symptoms:

While the exact cause of hypermobility syndrome is not fully understood, it is believed to be related to genetic factors. Common symptoms include pain and stiffness in the joints and muscles, clicking joints, and joints that dislocate (come out of their correct position).

References:

• [1] Hypermobility spectrum disorders (HSD) are connective tissue disorders that cause joint hypermobility, instability, injury, and pain.
• [3] Hypermobility is when your joints are too flexible. Joints are areas of your body where two bones meet. Most joints bend, letting your body move in various ways.
• [6] Hypermobile joints are joints that move beyond the normal range with little effort. Joints most commonly affected are the elbows, wrists, fingers, and knees.
• [7] Symptoms of joint hypermobility include pain and stiffness in the joints and muscles, clicking joints, and joints that dislocate (come out of their correct position).

Hypermobility syndrome, also known as joint hypermobility syndrome (JHS), is a condition characterized by an excessive range of motion in the joints. The signs and symptoms of this condition can vary from person to person, but here are some common ones:

• Joint instability: People with JHS may experience frequent sprains, strains, subluxations, and dislocations due to their joints being too flexible [1].
• Pain and stiffness: Joint pain and stiffness are common complaints among individuals with hypermobility syndrome, often affecting the muscles as well [2].
• Digestive system problems: Some people may experience digestive issues, such as irritable bowel syndrome (IBS), due to the condition's impact on the autonomic nervous system [3].
• Postural orthostatic tachycardia syndrome (POTS): POTS is a condition characterized by rapid heart rate and other symptoms when standing upright. It can be associated with hypermobility syndrome [4].
• Other problems: In some cases, individuals with JHS may experience headaches, easy bruising or bleeding, and other systemic issues [5].

It's essential to note that the signs and symptoms of hypermobility syndrome can be variable and may not always be immediately apparent. If you suspect you or someone else might have this condition, it's crucial to consult a healthcare professional for proper evaluation and diagnosis.

References: [1] Context 3 [2] Context 6 [3] Context 4 [4] Context 5 [5] Context 9

Hypermobility syndrome, also known as joint hypermobility syndrome (JHS), can be diagnosed through a combination of physical examination and diagnostic tests.

Physical Examination

A thorough physical examination is the first step in diagnosing hypermobility syndrome. A healthcare professional will assess your joints for excessive flexibility and mobility. They may perform various maneuvers to evaluate the laxity of your ligaments and tendons.

• The Beighton score is a popular screening technique for hypermobility, involving the assessment of 9 joints or regions [4]. For each of these joints, the examiner will check for excessive movement beyond what is considered normal.
• A physical exam may also include an evaluation of your skin, muscles, and connective tissue to rule out other conditions that may present with similar symptoms.

Diagnostic Tests

While there is no single diagnostic test for hypermobility syndrome, various tests can help confirm the diagnosis or rule out other conditions. These may include:

• Genetic testing: Genetic tests on a sample of your blood can confirm the diagnosis in rarer forms of Ehlers-Danlos syndrome and help rule out other problems [3].
• Blood tests: Blood tests may be ordered to rule out other conditions, such as arthritis or connective tissue disorders.
• Imaging studies: X-rays or other imaging studies may be used to evaluate joint alignment, bone density, or other structural issues.

Diagnostic Criteria

The diagnosis of hypermobility syndrome is made by medical history, physical examination, and exclusion of other conditions that present with musculoskeletal symptoms [10]. The 2017 diagnostic criteria for Ehlers-Danlos syndrome (hEDS) also exclude other less common conditions presenting with joint hypermobility [15].

It's essential to note that a diagnosis of hypermobility syndrome should only be made by a qualified healthcare professional, such as an orthopedic specialist or a geneticist.

References:

[3] IC-EDS and HSD (2022) - Recent audit findings on tests for upper and lower limb tools. [4] S Malek · 2021 · Cited by 150 - The Beighton Score (BS) is a set of manoeuvres in a nine-point scoring system, used as the standard method of assessment for Generalised Joint Hypermobility (GJH). [10] The diagnosis of hypermobile EDS/hypermobility spectrum disorders is made by medical history, physical examination, and exclusion of other conditions that present with musculoskeletal symptoms. [15] 2017 diagnostic criteria, which also excludes other less common conditions presenting with joint hypermobility such as other forms of EDS and heritable connective tissue disorders.

Treatment Options for Hypermobility Syndrome

Hypermobility syndrome, also known as Benign Joint Hypermobility Syndrome (BJHS), is a condition characterized by excessive joint flexibility and mobility. While there is no cure for BJHS, various treatment options can help manage symptoms and improve quality of life.

Pain Management

• Over-the-counter pain relievers: Acetaminophen (Tylenol), ibuprofen (Advil, Motrin IB), and naproxen sodium (Aleve) are commonly used to alleviate joint pain and inflammation [1].
• Prescription medications: In some cases, prescription-strength painkillers like diclofenac or gabapentin may be prescribed to manage chronic pain [4].

Other Treatment Options

• Hydrocortisone injections: For severe, painful episodes, hydrocortisone injections and intensive physiotherapy may be recommended within the first 24 hours [2].
• Physiotherapy: Regular exercise and physical therapy can help improve joint stability, strength, and flexibility [4].

Emerging Treatments

• Naltrexone: Research suggests that naltrexone, a medication typically used to treat opioid addiction, may also be effective in managing chronic pain associated with BJHS [3].
• Glial cell modulators: Emerging treatments like glial cell modulators and NGF inhibitors are being explored for their potential benefits in treating BJHS [3].

Important Considerations

• Beta-blockers: Individuals with Vascular Ehlers-Danlos Syndrome (VEDS), a related condition, may be prescribed beta-blockers to manage blood pressure [7].
• Comprehensive treatment plans: A multidisciplinary approach, involving healthcare professionals from various specialties, is essential for developing effective treatment plans tailored to individual needs.

References:

[1] Over-the-counter pain relievers can help alleviate joint pain and inflammation associated with hypermobility syndrome. [2] Hydrocortisone injections and intensive physiotherapy may be recommended within the first 24 hours for severe, painful episodes. [3] Emerging treatments like naltrexone, glial cell modulators, and NGF inhibitors are being explored for their potential benefits in treating BJHS. [4] Prescription medications like diclofenac or gabapentin may be prescribed to manage chronic pain associated with hypermobility syndrome. [7] Beta-blockers may be prescribed to manage blood pressure in individuals with VEDS.

Hypermobility syndrome, also known as Joint Hypermobility Syndrome (JHS), has several differential diagnoses that can be considered in the diagnostic process.

• Ehlers-Danlos syndrome: This is a group of genetic disorders that affect the connective tissue in the body. It can cause joint hypermobility, skin fragility, and other symptoms similar to JHS [1][2]. However, Ehlers-Danlos syndrome can be definitively diagnosed through skin biopsy and gene testing [7].
• Hypermobility Spectrum Disorder (HSD): This is a condition that was previously known as Joint Hypermobility Syndrome or Hypermobile Ehlers Danlos Syndrome. It is characterized by joint hypermobility, musculoskeletal pain, and other symptoms similar to JHS [8].
• Turner syndrome: This is a genetic disorder that affects females, causing short stature, infertility, and other physical characteristics. Joint hypermobility can be a feature of Turner syndrome [4].
• Cartilage-hair hypoplasia syndrome: This is a rare genetic disorder that affects the development of cartilage and hair. It can cause joint hypermobility, among other symptoms [4].
• Loeys-Dietz syndrome: This is a genetic disorder that affects the connective tissue in the body, causing joint hypermobility, skin fragility, and other symptoms similar to JHS [4].
• Muscular hypotonia (kyphoscoliotic type): This is a rare genetic disorder that affects muscle tone, causing joint hypermobility and other symptoms [4].

It's worth noting that the differential diagnosis of hypermobility syndrome can be complex and requires a comprehensive evaluation by a healthcare professional. The main differential diagnoses are hereditary connective tissue disorders and inflammatory joint conditions, which can make diagnosis not straightforward [9].