Uncovering Hypermobility Spectrum Disorder Symptoms
Discover the signs of hypermobility spectrum disorder symptoms and how to manage their impact on daily life.
Uncovering Hypermobility Spectrum Disorder Symptoms
Understanding Hypermobility Disorders
Hypermobility disorders are a group of conditions that affect the body's connective tissue, namely the joints. These disorders are characterized by an unusually large range of movement in some or all joints, leading to increased flexibility and suppleness.
Definition and Types
Joint hypermobility is a common condition, particularly among children and young people. It often runs in families and is thought to be a feature of an underlying condition affecting connective tissue called Ehlers-Danlos syndrome (EDS). In clinical practice, the most common symptomatic joint hypermobility conditions seen are hypermobile EDS and hypermobility spectrum disorders [2].
In 2017, the International Classification of the Ehlers-Danlos syndromes replaced previous terms for symptomatic joint hypermobility with hypermobile EDS and introduced the term hypermobility spectrum disorders for patients not meeting diagnostic criteria for hypermobile EDS.
Prevalence and Genetic Factors
The prevalence of hypermobile EDS/hypermobility spectrum disorders is unknown, but estimates suggest a prevalence of 0.13% to 0.19% for all EDS and joint hypermobility syndrome codes combined. Another estimate found that 3.4% of adults endorsed hypermobility and chronic widespread pain. However, the percentage of people with generalized joint hypermobility who are eventually diagnosed with hypermobile EDS/hypermobility spectrum disorders is unknown.
Genetically, hypermobile EDS is the only EDS subtype for which a genetic mutation has not been discovered. It is considered to be inherited in an autosomal dominant manner with incomplete penetrance. The pathogenesis of hypermobile EDS and hypermobility spectrum disorders involves muscle and tendon laxity, reduced proprioception, significantly disordered connective tissue structure, and alterations in gene expression.
Understanding these disorders is crucial in identifying hypermobility spectrum disorder symptoms and providing targeted treatment approaches. The subsequent sections will delve deeper into the symptoms, diagnostic procedures, and management of these conditions.
Symptoms of Hypermobility Spectrum Disorders
Recognizing the symptoms of hypermobility spectrum disorders requires an understanding of the broad range of physical and psychological experiences that can be associated with these conditions. The manifestation of symptoms can vary greatly among individuals, but they usually center around joint-related issues, gastrointestinal and skin complications, and psychological symptoms.
Joint-related Symptoms
Joint-related symptoms are often the most pronounced in individuals with hypermobility spectrum disorders. The condition is characterized by an unusually large range of joint movement, resulting in individuals being particularly supple and capable of moving their limbs into positions others find impossible.
Joint hypermobility syndrome involves weak ligaments due to a defect in collagen, causing loose joints. The genes involved in collagen production play a role in the development of this syndrome.
Moreover, joint pain is a common symptom and can cause significant discomfort.
Gastrointestinal and Skin Symptoms
People with hypermobile EDS/hypermobility spectrum disorders often experience gastrointestinal issues. Symptoms such as abdominal cramping, bloating, loose stools, and constipation are common and can significantly impact an individual's quality of life.
Additionally, there's a noted link between hypermobility and gastrointestinal issues such as irritable bowel syndrome (IBS), which is why an exclusion diet may be recommended to test for intolerances to certain food products.
Skin-related symptoms can also occur, including easy bruising and problems with skin healing.
Psychological Symptoms
Hypermobility spectrum disorders don't only affect the physical body; psychological symptoms are also common. Conditions such as anxiety and feeling excessively tired are often reported by individuals with these disorders. The chronic pain associated with the condition can also have a significant psychological impact, potentially leading to mental health conditions such as depression or anxiety disorders.
These symptoms highlight the multifaceted nature of hypermobility spectrum disorders and the importance of a comprehensive approach to diagnosis and treatment. Understanding these symptoms can help those affected by the condition to better manage their symptoms and improve their quality of life.
Diagnosis and Evaluation
Understanding hypermobility spectrum disorder symptoms is vital, but how do physicians diagnose these conditions? The process involves an evaluation of medical history, physical examinations, and the application of specific assessment tools like the Beighton score and a specially designed questionnaire.
Beighton Score and Questionnaire
The Beighton score is a validated tool used to determine the degree and pattern of hypermobility. Alongside it, a five-part questionnaire is administered to help determine the presence of generalized joint hypermobility.
The Beighton score assesses five key areas of the body for hypermobility. A score of 1 is given for each of the following hypermobility signs, up to a total score of 9:
- Left and right little finger bending backward more than 90 degrees
- Left and right thumb touching the forearm when bent
- Left and right elbow bending backward
- Left and right knee bending backward
- Trunk flexion with knees fully extended and palms on the floor.
The questionnaire, on the other hand, includes questions about joint pain, dislocation history, and skin conditions, among other factors, to gain a comprehensive understanding of the patient's condition.
Medical History and Physical Examination
In addition to the Beighton score and the questionnaire, the diagnosis of hypermobility spectrum disorders is made through a detailed medical history and physical examination. These help in excluding other conditions that present with musculoskeletal hypermobility.
The physical examination may involve the assessment of joint flexibility, skin, eyes, and the heart. In some cases, additional tests like blood tests may also be conducted to determine the specific hypermobile condition present. During the medical history evaluation, the physician might investigate any systemic manifestations of a more generalized connective tissue disorder, family history, musculoskeletal complications, and rule out alternative diagnoses.
Remember, while these evaluation methods can indicate the presence of hypermobility spectrum disorders, it's crucial to note that there's currently no confirmatory test for hypermobile EDS [2]. The evaluation of hypermobility spectrum disorder symptoms, therefore, remains a clinical one, involving careful assessment and observation.
Management of Hypermobility Spectrum Disorders
The management of hypermobility spectrum disorders involves a combination of treatment strategies and involves a team of healthcare professionals. The goal is to alleviate symptoms, improve quality of life, and prevent injuries.
Treatment Approaches
The treatment for hypermobility spectrum disorders is often tailored to the individual's specific symptoms and needs. Physiotherapy and exercise, occupational therapy, podiatry, painkillers, and pain management are some of the main treatments for joint hypermobility syndrome.
Other treatment options may include braces and splints, occupational therapy, physical therapy, pain management, platelet disorder treatment, nutrition advice, pharmacotherapy for gastrointestinal, cardiovascular, ocular, neurologic, and urogynecologic manifestations, orthodontic and maxillofacial management, and counseling and pharmacotherapy for neurobehavioral and psychiatric manifestations [5].
Physical activities that involve gentle strengthening exercises, like walking, bicycling, and water aerobics, are recommended. It is essential to progress slowly to prevent excessive fatigue and avoid activities leading to post-exercise pain.
Multidisciplinary Care
The management of hypermobility spectrum disorders often involves a multidisciplinary approach. Coordination of care by a family doctor along with a team of professionals like physical therapists, occupational therapists, counselors, and various other doctors is often needed.
Patients are encouraged to understand their condition to improve their quality of life and better involve their caregivers in the process. Maintaining good posture at home and work is recommended to prevent injuries and pain, with guidance available from physical therapists and ergonomics specialists [4].
By understanding the wide range of treatment approaches available for hypermobility spectrum disorder symptoms, patients can work with their healthcare team to develop a personalized plan that addresses their unique needs and improves their overall well-being.
Lifestyle and Exercise Recommendations
Adapting to life with a hypermobility spectrum disorder involves making changes to one's lifestyle and exercise routines. These changes aim to manage the disorder's symptoms, enhance overall health, and improve the quality of life.
Physical Activities
Staying active is crucial for individuals with hypermobility spectrum disorders. However, it's essential to choose physical activities that do not excessively strain the joints. Recommended activities include gentle strengthening exercises such as walking, bicycling, and water aerobics. These activities can help maintain joint stability and overall health without triggering post-exercise pain or excessive fatigue.
Tai chi, characterized by its slow, controlled movements, can also be beneficial. This form of exercise can help reduce falls, alleviate pain, and improve balance.
When starting a new exercise regimen, it's important to progress slowly and listen to your body's signals. Overdoing exercise can lead to fatigue and exacerbate symptoms, so moderation is key.
Posture and Joint Protection
In addition to exercise, maintaining good posture is crucial in managing hypermobility spectrum disorder symptoms. Good posture can help prevent injuries and alleviate pain, especially in the back and neck areas.
Individuals with hypermobility disorders may find it helpful to consult with physical therapists or ergonomics specialists. These professionals can provide guidance on maintaining good posture during daily activities, both at home and at work.
Using assistive devices, such as braces and supports, can also provide additional joint protection. These devices can help stabilize hypermobile joints and reduce the risk of dislocation.
In conclusion, managing hypermobility spectrum disorder symptoms involves a combination of appropriate physical activities and protective measures. By staying active, maintaining good posture, and protecting your joints, you can help manage your symptoms and improve your quality of life.
Impact on Daily Life
The impact of hypermobility spectrum disorder symptoms extends beyond physical concerns and can significantly affect individuals' daily life. It can alter social relationships, personal identity, and the balance of activities one is able to maintain.
Social Relationships
Hypermobility spectrum disorders (HSD) or hypermobile Ehlers-Danlos syndrome (hEDS) can influence one's interactions and relationships with others. Individuals with these conditions often find it challenging to establish new connections and may experience changes in their social network and support systems. Relationships with partners, children, friends, and fellow sufferers can be significantly affected due to the physical limitations and pain associated with these disorders.
Additionally, the need for assistance can also impact these relationships. While asking for help can be difficult, accepting it can be equally challenging due to feelings of guilt and a desire for independence. Despite their own challenges, individuals with hEDS or HSD find value in being able to assist others [6].
Identity and Balance
The limitations imposed by hEDS or HSD can lead to changes in individuals' identity. The number and type of activities they can participate in decrease, leading to a shift in how they perceive themselves and their roles. Maintaining a balance in the amount of activities they engage in requires careful consideration of their capabilities and the potential consequences of each activity.
These individuals often face challenges in their search for a life balance. They may frequently exceed their physical limits and struggle to define and communicate their boundaries. Adjustments in the level of activity and participation in society are necessary, and the pleasure and consequences of activities need to be weighed carefully to maintain balance.
Living with hEDS or HSD requires a constant process of adaptation, not only in managing physical symptoms but also in maintaining social relationships and personal identity. Individuals with these conditions need to continually assess and adjust their activities to balance their capabilities with their desires, all while navigating the complexities of their social interactions.
References
[2]: https://www.aafp.org/pubs/afp/issues/2021/0415/p481.html
[3]: https://my.clevelandclinic.org/health/diseases/21763-joint-hypermobility-syndrome
[4]: https://www.aafp.org/pubs/afp/issues/2021/0415/p481-s1.html
