Pain in Ehlers-Danlos Syndrome

Pain in Ehlers-Danlos Syndrome (EDS)

Overview

Pain is a prevalent and disabling symptom in patients with Ehlers-Danlos syndrome (EDS), especially in the hypermobile subtype (hEDS). Chronic pain often begins in childhood or adolescence and can persist throughout life, significantly reducing quality of life and impacting physical, emotional, and social well-being. The nature of pain in EDS is complex and multifactorial, arising from musculoskeletal and neuropathic origins, often exacerbated by joint instability, frequent dislocations, and tissue fragility. In addition to joint-related pain, EDS patients frequently suffer from headaches, gastrointestinal disturbances, and autonomic dysfunctions, such as Postural Orthostatic Tachycardia Syndrome (POTS), which further complicates pain management.

Types of Pain in EDS

Pain in EDS can be classified into several categories, reflecting the complex interplay of structural and neurological factors.

1. Musculoskeletal Pain: This is the most common type of pain in EDS and is linked to joint instability, frequent subluxations, and muscle strain. Patients often report joint and muscle pain, which can be localized or widespread. The chronic instability of joints, due to ligamentous laxity, leads to microtraumas and soft tissue damage, causing persistent discomfort. In some cases, patients experience frequent dislocations or subluxations (partial dislocations), which contribute to long-term musculoskeletal damage. Muscle weakness, a common symptom in EDS, exacerbates joint instability, leading to further pain.
2. Neuropathic Pain: In some EDS patients, particularly those with hEDS, nerve damage plays a role in pain. Nerves can be compressed or damaged due to joint instability, resulting in neuropathic pain. This type of pain is often described as a burning or tingling sensation and may include paresthesia (numbness) and allodynia (pain from stimuli that are not usually painful). For example, nerve subluxations in the upper limbs are common, leading to peripheral neuropathy. Moreover, research shows that EDS patients may have a reduced density of intraepidermal nerve fibers, which further contributes to their neuropathic pain.
3. Central Sensitization: Central sensitization refers to an enhanced response of the central nervous system to pain stimuli, resulting in a lowered pain threshold and heightened pain sensitivity. EDS patients are prone to central sensitization, which can amplify both musculoskeletal and neuropathic pain. This phenomenon means that even mild stimuli, such as light touch or temperature changes, can cause significant discomfort. Central sensitization is thought to occur due to continuous stimulation of nociceptors (pain receptors) from joint instability and repeated microtrauma. This hypersensitivity complicates treatment, as it requires a comprehensive pain management approach that addresses both peripheral and central pain mechanisms.

Common Locations and Characteristics of Pain

Pain in EDS patients often manifests in several key regions of the body, typically affecting joints, muscles, and connective tissues. The neck, shoulders, hips, forearms, and legs are frequently cited as primary areas of pain. For EDS as well as POTS patients, neck pain is particularly common and is often associated with headaches, including migraines or tension-type headaches. Many patients report debilitating headaches as one of their earliest and most persistent symptoms.

The nature of pain in EDS can vary widely:

• Localized or Widespread: Early in the condition, pain might be limited to specific joints or muscles, such as the knees or shoulders, but as the disease progresses, the pain often becomes more widespread, affecting multiple areas of the body simultaneously.
• Acute or Chronic: Pain can be episodic, tied to specific dislocations or injuries, but chronic pain that lasts for months or years is more common.
• Burning, Throbbing, or Tingling: Neuropathic pain is often described as a burning sensation, while musculoskeletal pain may feel more like throbbing or aching due to tissue damage and inflammation.

Impact on Quality of Life

Pain is one of the most significant factors affecting the quality of life in EDS patients. It interferes with daily activities, mobility, and mental health, often leading to fatigue, sleep disturbances, and emotional distress. Chronic pain in EDS can severely restrict physical activity, leading to muscle deconditioning, which further aggravates joint instability and pain. Moreover, the fatigue commonly experienced by EDS patients is both a cause and a consequence of chronic pain. As pain interrupts sleep and rest, patients become more fatigued, which, in turn, lowers their pain tolerance and exacerbates symptoms.

Mental health issues such as anxiety, depression, and even post-traumatic stress disorder (PTSD) are common among patients with chronic pain disorders like EDS. The unpredictability of pain episodes, coupled with frequent misdiagnoses and delayed treatments, contributes to emotional stress. Patients with EDS often experience a delay of up to 10-14 years before receiving an accurate diagnosis, leading to frustration and anxiety.

Management of Pain in EDS

Managing pain in EDS is notoriously difficult due to its multifactorial nature. A comprehensive, multidisciplinary approach is essential to address both the physical and emotional components of pain. Effective pain management typically involves a combination of pharmacological treatments, physical therapy, psychological support, and, in some cases, surgical interventions:

• Physical Therapy and Exercise: A key component of pain management in EDS is physical therapy aimed at improving joint stability and muscle strength without overstraining the joints. Exercise regimens must be carefully tailored to avoid injury while enhancing proprioception and core stability. Water-based exercises, such as swimming or water aerobics, are often recommended because they provide low-impact resistance while minimizing joint strain.
• Pharmacological Treatments: Medications for EDS-related pain vary depending on the type and severity of pain. Nonsteroidal anti-inflammatory drugs (NSAIDs) are commonly used for musculoskeletal pain, though long-term use is discouraged due to the risk of gastrointestinal side effects. Tricyclic antidepressants, such as amitriptyline, and serotonin-norepinephrine reuptake inhibitors (SNRIs), like duloxetine, are effective for managing neuropathic pain and central sensitization. In some cases, low-dose opioids may be prescribed for severe pain, but long-term use is controversial due to the risk of dependency and opioid-induced hyperalgesia (increased pain sensitivity).
• Cognitive Behavioral Therapy (CBT): Psychological support is essential for managing the emotional aspects of chronic pain. Cognitive behavioral therapy helps patients develop coping mechanisms to manage pain and reduce the emotional impact of the condition. Studies have shown that CBT can improve pain tolerance and overall quality of life in EDS patients by addressing maladaptive thought patterns related to pain and disability.
• Assistive Devices and Braces: For patients with significant joint instability, assistive devices such as orthotic braces, compression garments, and custom shoe inserts can help stabilize joints, reduce subluxations, and alleviate pain.
• Transcutaneous Electrical Nerve Stimulation (TENS): This device, which delivers low-voltage electrical impulses to the skin, can help block pain signals and provide temporary relief for patients with chronic pain.

Dismissal of Pain in EDS

A significant barrier to effective pain management in EDS is the frequent dismissal of patients' pain by healthcare providers. Many EDS patients, especially young women and teenage girls, report that their pain is often attributed to psychological factors or dismissed as "growing pains." This dismissal can lead to delays in diagnosis and treatment, causing further physical and emotional harm.

Many patients have been labeled as "hysterical" or "complainers" due to the subjective nature of their pain and the lack of visible signs of injury or inflammation. This pattern of invalidation is particularly common in teenage girls, whose symptoms are frequently downplayed as normal developmental changes. Parents seeking care for their children may face accusations of exaggerating symptoms or, in extreme cases, even medical neglect.

These negative encounters contribute to what researchers have termed clinician-associated traumatization, a form of medical trauma resulting from repeated invalidation by healthcare providers. This can lead to long-term psychological distress, including anxiety, depression, and avoidance of medical care. Consequently, patients with EDS may delay seeking help for worsening symptoms, leading to more severe pain and complications over time.

Pain in Postural Orthostatic Tachycardia Syndrome (POTS)

POTS, a form of dysautonomia, is common in patients with EDS, particularly those with hypermobility. While POTS primarily affects heart rate and blood pressure, it can also cause or exacerbate pain. This pain is often experienced in the muscles, joints, and chest and is linked to the body's difficulty maintaining blood flow and oxygen delivery to tissues. Additionally, some of the pain reported in POTS patients may be related to underlying joint hypermobility or EDS itself, as the two conditions often co-occur.

POTS can also cause headaches and migraines, which are frequently reported in EDS patients. This is often due to poor blood flow to the brain, resulting in dizziness, fatigue, and pain.

Future Directions for Pain Management in EDS

Current treatment options for pain in EDS are limited, often focusing on managing symptoms rather than addressing the underlying causes. However, several areas of research are providing new insights into potential therapeutic strategies:

1. Early Diagnosis and Intervention: Research suggests that early diagnosis and targeted intervention may help prevent the progression of pain and associated symptoms in EDS. By diagnosing EDS at a younger age, clinicians can implement strategies to manage joint instability, reduce subluxations, and prevent long-term musculoskeletal damage.
2. Central Sensitization and Pain Modulation: More research is needed to understand the role of central sensitization in EDS-related pain. Exploring therapies that modulate the central nervous system's response to pain, such as neurofeedback or specific pharmacological interventions, could provide relief for patients with central sensitization.
3. Multidisciplinary Care: The complexity of pain in EDS requires a multidisciplinary approach that includes pain specialists, physical therapists, psychologists, and occupational therapists. Tailoring treatments to the individual patient’s needs is critical for improving outcomes.
4. Innovative Therapies: Emerging therapies such as Low Dose Naltrexone (LDN) and oxygen therapy show promise for managing specific types of pain in EDS patients. Further research into these therapies is warranted to determine their efficacy and safety.

Frequently Asked Questions

Can POTS cause pain?
Yes, POTS is commonly associated with pain, particularly in people with EDS or joint hypermobility. The pain may be linked to poor blood circulation, muscle fatigue, and underlying joint hypermobility. POTS patients often experience headaches, chest pain, and muscle discomfort, which can be exacerbated by the body’s difficulty in maintaining proper blood flow.

What causes Ehlers-Danlos flare-ups?
Flare-ups in EDS can include temporary increases in pain, fatigue, joint instability, and other symptoms. These flare-ups are often triggered by factors such as physical exertion, stress, hormonal changes, or illness. In addition to pain, flare-ups may include worsening of symptoms like POTS, migraines, and gastrointestinal issues.

How debilitating is EDS?
EDS can be highly debilitating, especially when chronic pain, frequent joint dislocations, and other symptoms are poorly managed. It can severely impact daily functioning, including mobility, strength, and cognitive ability. Many patients experience fatigue, difficulty maintaining employment, and emotional distress due to the unpredictable nature of the condition.

How severe can Ehlers-Danlos pain be?
Pain in EDS can range from mild to severe. For some patients, it is constant and widespread, affecting their ability to work, move, or even rest comfortably. Severe pain may be due to frequent joint dislocations, muscle strain, nerve damage, or central sensitization, leading to a highly disabling experience.

How would you describe EDS pain?
EDS pain can vary widely but is often described as a combination of aching, throbbing, burning, or tingling sensations. It can be localized to joints, particularly those prone to subluxations, or widespread due to muscle fatigue and central sensitization. Neuropathic pain, characterized by tingling or shooting pain, is also common.

Is nerve pain a symptom of EDS?
Yes, nerve pain is common in EDS due to frequent subluxations or dislocations that compress nerves. This type of pain is often described as sharp, burning, or tingling and can occur in various areas of the body, especially the upper limbs.

Can Ehlers-Danlos cause body aches?
Yes, body aches are a common symptom of EDS, often resulting from joint instability, muscle fatigue, and soft tissue strain. The widespread pain can affect muscles and ligaments, leading to an overall sensation of aching or stiffness.

What are the symptoms of EDS in the neck?
Common symptoms of EDS in the neck include pain, stiffness, headaches, and muscle spasms. Patients with hypermobility may also experience instability in the cervical spine, which can lead to additional symptoms such as dizziness, difficulty swallowing, and autonomic dysfunction.

What does EDS hip pain feel like?
EDS hip pain is often described as deep, aching, or throbbing pain that can worsen with movement or prolonged sitting. It is typically caused by joint instability, muscle strain, or subluxations in the hip joint. This pain may radiate to the lower back or thighs.
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References

1. Chopra, Pradeep, et al. "Pain Management in the Ehlers-Danlos Syndromes." American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol. 175, no. 2, 2017, pp. 212–219, https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.c.31554
2. Voermans, Nicol C., et al. "Pain in Ehlers-Danlos Syndrome Is Common, Severe, and Associated with Functional Impairment." Journal of Pain and Symptom Management, vol. 40, no. 3, 2010, pp. 370–378, doi:10.1016/j.jpainsymman.2009.12.026.
3. Halverson, Colin M. E., et al. "Clinician-Associated Traumatization from Difficult Medical Encounters: Results from a Qualitative Interview Study on the Ehlers-Danlos Syndromes." SSM - Qualitative Research in Health, vol. 3, June 2023, https://doi.org/10.1016/j.ssmqr.2023.100237.
4. Guerrieri, Viviana, et al. "Pain in Ehlers-Danlos Syndrome: A Non-Diagnostic Disabling Symptom?" Healthcare, vol. 11, no. 7, 2023, doi:10.3390/healthcare11070936.
5. Johannessen, Elise Christine, et al. "Shoulder Function, Pain, and Health-Related Quality of Life in Adults with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobility Type." Disability and Rehabilitation, vol. 38, no. 14, 2016, pp. 1382–1390, doi:10.3109/09638288.2015.1102336.

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