Hypermobility spectrum disorders (HSDs) are a group of illnesses that impact connective tissue in such a way that causes chronic pain and joint instability, among other things.
Among these HSDs is hypermobile Ehlers-Danlos Syndrome (hEDS). hEDS is significant because it is an HSD that has a more significant multisystem involvement. That is, hEDS causes not only joint hypermobility but also things such as skin and other connective tissue abnormalities.
HSDs pose challenges for healthcare providers as things such as ongoing patient education and multidisciplinary treatment teams are often necessary for the management of these conditions.
(Disclaimer: I am not a medical professional and all information provided in this post is from the article which is available in the “references” section at the bottom of the page. This post is meant only to provide a synopsis of the information covered in the original article.)
Joint Hypermobility and Hypermobility Spectrum Disorders—Definitions
Joint hypermobility is when joints have an increased passive or active range of motion beyond the joint's normal range. This can be assessed based on physical examination and the patient's responses to questions.
Joint hypermobility is commonly seen in primary care and is not always an HSD.
Hypermobility Spectrum Disorder—Diagnostic Criteria
Hypermobility syndrome was first described in 1967 and was thought to be a separate entity from Ehlers-Danlos syndrome and Marfan syndrome. However, over time, more overlaps began to show between hypermobility syndrome and hEDS. This made differentiating between the two disorders increasingly difficult.
The prevalence of HSDs and hEDS is unknown due to the lack of recognition for these conditions, but generalized joint hypermobility appears to be present in between 12.5% and 26% of college-age individuals. Furthermore, HSDs have a strong genetic component, but there are currently no identifiable genetic markers for these conditions.
The Pathogenesis of Pain in HSDs
The exact causes of pain in HSD patients are not well understood, but there is a range of possibilities.
Things such as nociceptive pain (pain from an injury), neuropathic pain, central sensitization, muscle weakness, and impaired proprioception may all play a role. Repetitive microtraumas on soft tissues and decreased muscle mass may also contribute to pain.
Along with these abnormalities, many HSD patients also present with fibromyalgia. One hypothesis for this is that fibromyalgia develops in HSD patients as a way to prevent further injury by creating pain whenever activity is attempted.
All of these difficulties often contribute to a loss of muscle mass and the development of exercise intolerance due to a fear of pain or injury, which can lead to the development of anxiety and depression.
Joint Findings in Patients with HSDs
Patients with generalized joint hypermobility may or may not have joint laxity. Because laxity indicates instability, whereas hypermobility indicates the joint moving beyond the normal range of motion, all generalized hypermobility patients do not necessarily have joint laxity.
Excessive fluid in the joints and joint deformities may be present and can seem like inflammatory arthritis.
Children and young adults with HSDs may experience patellar subluxations/dislocations, scoliosis, genu valgum, pes planus, and/or genu recurvatum.
Skin Manifestations
People with HSDs or hEDS typically display dermatological issues such as increased skin elasticity and easy bruising and bleeding.
HSD in Pregnant Women
Pregnant women are a unique subset of HSD patients because of the increase in joint laxity that is typically seen in pregnancy.
Pregnant women with HSDs are at a higher risk for things such as early labor, back pain, and sacroiliac pain. However, dysautonomia symptoms often improve during pregnancy as a result of blood volume increasing during the later stages of pregnancy.
Some evidence suggests that children of parents with HSDs may have up to a 50% chance of also developing some form of HSD.
Affective Disorders (the Neurocognitive Phenotype)
There appears to be a correlation between anxiety and HSDs, with patients who have an anxiety diagnosis having joint hypermobility more often than those without anxiety. This correlation has recently been named the “neurocognitive phenotype”.
There have been both genetic and structural links found between anxiety and joint hypermobility.
Joint hypermobility patients appear to have significant differences in the regions of the brain associated with anxiety. Furthermore, structural differences in the regions of the brain associated with emotional control and autonomic arousal have also been observed.
Dysautonomia and Exercise Intolerance
Exercise is often recommended to help treat anxiety. However, many HSD patients also present with signs of dysautonomia such as exercise intolerance, inability to regulate body temperature, and orthostatic intolerance, which can cause the opposite of the intended effect. These factors may make exercise an improper approach for coping with anxiety in patients with HSDs.
Challenges in Primary Care
Primary care providers treating HSDs have to deal with an array of difficulties ranging from assessing a large number of symptoms, creating an effective treatment plan, considering other diagnoses, and setting patients on the right path with a multidisciplinary team as well as self-education.
Differential Diagnosis
HSDs are clinical diagnoses, meaning there is no true test that can confirm their presence, so it is left up to the provider to decide.
As a result of there being no way to truly confirm HSDs through testing, other illnesses must be ruled out first. This is known as a process of elimination diagnosis.
Before settling on an HSD diagnosis, things such as nerve impingement syndromes, fibromyalgia, complex regional pain syndrome, and other conditions that could be causing hypermobility have to be identified and/or excluded.
Although hEDS and HSD are both within the same set of diagnoses, hEDS tends to have more symptoms associated with it and presents earlier than HSD. Also, hEDS must meet stricter criteria for a diagnosis.
Treatment Options
Once HSD or hEDS has been diagnosed, many patients can be managed in primary care through a multidisciplinary approach. Things such as pharmacotherapy, biofeedback, psychotherapy, and physical therapy may be used.
Successful treatment for patients should focus on treating the causes of pain as well as the causes of fatigue. Managing dysautonomia symptoms may help improve HSD/hEDS patients' quality of life.
In addition to medical approaches, lifestyle modifications are also helpful for managing symptoms. Things such as stretching and strength training may help improve symptoms.
Conclusion
HSDs can present in several different ways and often involve assessing a wide range of diagnostic criteria. Patients may benefit from a multidisciplinary treatment approach. Also, there may be an overlap between mental health and HSDs.
References
Atwell, Karina, et al. “Diagnosis and Management of Hypermobility Spectrum Disorders in Primary Care.” American Board of Family Medicine, American Board of Family Medicine, 1 July 2021, https://www.jabfm.org/content/34/4/838.long.
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