Treatment of obstructive sleep apnea with hypoglossal nerve stimulation in a patient with Ehlers-Danlos syndrome.

Ehlers-Danlos syndrome is a group of hereditary connective tissue disorders caused by defects in collagen synthesis and structure that manifests as tissue fragility, hypermobility, and vascular abnormalities. Patients with Ehlers-Danlos syndrome are at a high risk of developing obstructive sleep apnea due to increased tissue laxity in the upper airway, in addition to nasal-maxillary cartilaginous defects, scoliosis, or other abnormalities. Here we present the case of a patient with Ehlers-Danlos syndrome who underwent successful treatment of obstructive sleep apnea using hypoglossal nerve stimulation after continuous positive airway pressure therapy failure, demonstrating that this can be a useful treatment modality in this population. CITATION: Miller SM, Miller MB. Treatment of obstructive sleep apnea with hypoglossal nerve stimulation in a patient with Ehlers-Danlos syndrome. J Clin Sleep Med. 2023;19(3):631-632.

Multidisciplinary chronic pain management strategies in patients with Ehlers-Danlos syndromes.

Ehlers-Danlos syndromes (EDS) are a group of disorders characterized by abnormal connective tissue affecting several organ systems. Patients with the hypermobile type of EDS (hEDS) commonly experience chronic pain which can present as musculoskeletal pain, fibromyalgia, neuropathic pain or abdominal pain. The effective management of chronic pain in hEDS patients is a challenge. This study reviews two cases of chronic pain in hEDS patients and the multimodal treatment regimen used along with peripheral nerve stimulation for shoulder and knee pains, never before reported in hEDS patients. Since hEDS associated chronic pain is multifactorial in origin, treatment requires a multidisciplinary approach which includes physical therapy, psychotherapy, pharmacotherapy and interventional pain procedures such as trigger point injections, peripheral nerve block, radiofrequency ablation and peripheral nerve stimulation.

Ehlers­Danlos Syndromes (EDS) are a group of disorders that affects the connective tissues that supports skin, muscles and organs. Patients with the hypermobile subtype of EDS (hEDS) often experience chronic pain of multiple locations including the muscles, joints, nerves, abdomen, head or generalized pain. Treating chronic pain in patients with hEDS is challenging. In this study, we review the treatment of chronic pain in two patients with hEDS using multiple therapies including the novel use of peripheral nerve stimulation in this patient population. Chronic pain in hEDS patients is caused by multiple different mechanisms and therefore, the treatment of this pain requires multiple different therapeutic interventions such as medications, physical therapy, psychotherapy and minimally invasive procedures such as peripheral nerve stimulation.

Pilot study of an online-delivered mindfulness meditation in Ehlers-Danlos syndrome (hEDS): effect on quality-of-life and participant lived experience.

PURPOSE: Ehlers-Danlos syndromes (EDS) are connective tissue disorders with multi-systemic symptoms. Management of chronic pain and other symptoms of EDS is a challenge for patients and clinicians. Mindfulness-based approaches for chronic pain produce improvement in pain symptoms. Mindfulness meditation could be an acceptable and readily accessible therapy for pain in EDS. This study evaluated the effect of daily practice of mindfulness meditation on pain experience and quality-of-life in EDS. MATERIALS AND METHODS: A pre-post design enabled assessment of change in quality-of-life (SF-36) after practicing internet-delivered mindful meditation for two weeks. Thematic analysis of interviews (n = 10) documented lived experience of meditation practice for pain symptoms. One hundred fifty-seven were recruited from UK EDS charities mailing lists. Seventy six completed the two-week intervention. RESULTS: There was a statistically significant improvement in the SF-36 mental component summary score of medium effect size; the change was clinically important. Thematic analysis revealed three key themes of lived experience relating to increased body awareness, reduction in pain intensity, and barriers to practicing meditation. CONCLUSIONS: This study provides novel evidence about the effect and experience of meditation for symptoms in people with EDS. The outcomes warrant further research with appropriate control groups to determine efficacy.Implications for rehabilitationMindfulness-based interventions are effective for chronic pain relief.Hypermobile Ehlers-Danlos syndrome (hEDS) patients experience chronic pain that affects quality-of-life.Online-delivered mindfulness meditation was clinically significant in reducing pain intensity and improving quality-of-life outcomes.hEDS patients found the online-delivered intervention acceptable and recommended development to make it flexible to meet their specific needs by varying types and duration of meditations offered.

A Comprehensive Review: Chronic Pain Sequelae in the Presence of Ehlers-Danlos Syndrome.

PURPOSE OF REVIEW: Patients diagnosed with Ehlers-Danlos syndromes (EDS), and especially those with the hypermobility subtype, often experience a diverse range of acute and chronic pain conditions throughout their lifetime. These can present in a variety of different phenotypes and comorbidities, making it difficult to develop structured treatment protocols. This review seeks to summarize the current literature to address old and novel treatments for EDS. RECENT FINDINGS: Historically, medications and surgery have been used to treat patients with EDS but with low efficacy. Newer therapies that have shown promising effects for both decreasing pain and increasing quality of life include physical/occupational therapy, transcutaneous electrical nerve stimulation units, trigger point injections, low-dose naltrexone, and laser therapy. In addition, addressing the psychosocial aspects of pain with EDS through methods like cognitive behavioral therapy and patient education has shown to be vital in minimizing pain. Most research also emphasizes that pain management should not only focus on pain reduction, but on helping reduce symptoms of hypermobility, central sensitization, and fatigue to make an impactful difference. Research on pain in EDS is still limited with good clinical practice guidelines often limited by poor sample size and lack of clinical studies. Treatment options should be structured based on the specific type of pain pathology and presenting symptoms of each patient and their comorbidities. Future research should attempt to prioritize larger sample sizes, clear definitions of EDS subtypes, randomized trials for treatment efficacy, and more studies dedicated to non-musculoskeletal forms of pain.

Treating pain related to Ehlers-Danlos syndrome with medical cannabis.

We present the case of an 18-year-old woman who suffered from complications of Ehlers-Danlos syndrome (EDS). Her pain was poorly controlled despite being on a myriad of analgesic medications at the time. On initiating cannabinoid-based treatment, her pain was drastically reduced, immediately enhancing the patient's quality of life. As the patient continued to self-administer, she was able to eliminate her opioid requirement. Considering the recent legalisation, we underline the need for physicians to be educated regarding the use of cannabinoids. In this case, specifically for chronic pain stemming from hypermobile EDS. Furthermore, we review the various impediments preventing ease of access to this potentially beneficial treatment.

Vascular Ehlers-Danlos Syndrome: Treatment of a Complex Abdominal Wound with Vitamin C and Mesenchymal Stromal Cells.

ABSTRACT: Vascular Ehlers-Danlos syndrome (EDSv) can present with life-threatening surgical complications. The article describes the case of a patient with EDSv who developed total abdominal wound dehiscence and multiple enterocutaneous fistulas. Treatment with IV allogeneic mesenchymal stromal cells (MSCs) and high-dose vitamin C was trialed with success. Near-complete wound healing of the abdominal dehiscence with a 94% reduction in the size of the wound bed occurred. Maturation of the enterocutaneous fistulas also ensued.There is no current consensus on the management of large cutaneous wounds in EDSv. This article discusses the pathophysiology of wound healing with regard to nutrition requirements and growth factors with special reference to collagen deficits in EDSv. A potential therapy with IV vitamin C supplementation and MSCs is proposed following the patient's positive outcome. Medium-dose MSCs and high-dose IV vitamin C may offer significant benefits to complex and problematic wounds.

Effects of Rhythmic Sensory Stimulation on Ehlers-Danlos Syndrome: A Pilot Study.

Ehlers-Danlos syndrome (EDS) is a connective tissue disorder characterized by joint hypermobility and skin extensibility and is often accompanied by chronic pain. Rhythmic sensory stimulation (RSS) can be defined as the stimulation of the senses in a periodic manner within a range of low frequencies. Music plus sound delivered through a vibroacoustic device is a form of RSS and has demonstrated utility in managing pain. In this current study, we conducted an open-label pilot study of 15 patients with hypermobile EDS using RSS as the intervention. Posttreatment improvements were seen in 11 of the 15 patients (73%), whereas 3 of the 15 patients (20%) experienced worse outcomes. Of the 14 patients that completed the experiment, 6 participants (43%) were classified as "responders" to the device while 8 participants (57%) were classified as "nonresponders." Responders demonstrated significant improvements in pain interference (51.5 ± 16 preintervention vs. 43.5 ± 16.4 postintervention BPI score) and depression symptoms (34.0 ± 15.9 preintervention vs. 26.8 ± 12.1 postintervention CESD score). Poststudy interviews confirm the improvements of pain interference, mood, and bowel symptoms. Furthermore, analysis of medical conditions within the responder group indicates that the presence of depression, anxiety, irritable bowel syndrome, and fibromyalgia may indicate a greater likelihood for patients to benefit with vibroacoustic applications. These results indicate a possible potential for RSS, delivered using a vibroacoustic device, in managing pain-related symptoms. Further research is necessary to elucidate the exact mechanism behind the physiological benefits of RSS.

Chronic pain in a patient with Ehlers-Danlos syndrome (hypermobility type): The role of myofascial trigger point injections.

Chronic widespread musculoskeletal pain is a cardinal symptom in hypermobility type of Ehler Danlos Syndrome (EDS type III). The management of pain in EDS, however, has not been studied in depth. A 30 year old female, known case of EDS, presented to the pain clinic with complaints of severe upper back pain for 6 months. Physical examination of the back revealed two myofascial trigger points over the left rhomboids and the left erector spinae. Local anaesthetic trigger point injections were given at these points, followed by stretching exercises under analgesic cover for the first week. After 1 week the patient reported 60-80% pain relief. This case highlights that we must keep a high index of suspicion for the more treatable causes of pain like myofascial pain syndrome in patients suffering from EDS, and should address it promptly and appropriately in order to maximise patient comfort.

Cornelia de Lange and Ehlers-Danlos: comorbidity of two rare syndromes.

We present a case of a young adult with both Cornelia de Lange syndrome and Ehlers-Danlos syndrome. The patient showed non-verbal autism, intellectual disability and severe/intractable self-harming behaviours that led to a life-threatening complication (ie, septicaemia). A significant reduction in the self-harming behaviours was attained in a multidisciplinary neurobehavioural inpatient unit after addressing all causes of somatic pains, managing pain using level II and III analgesics, stabilising the patient's mood, limiting the iatrogenic effects of multiple prescriptions and offering a specific psychoeducational approach.

Pain control methods in use and perceived effectiveness by patients with Ehlers-Danlos syndrome: a descriptive study.

PURPOSE: The purpose of this study was to assess the pain control methods in use by patients who have Ehlers-Danlos Syndrome (EDS), a group of connective tissue disorders, and their perceived effectiveness. METHOD: This descriptive study involved 1179 adults diagnosed with EDS who completed an anonymous on-line survey. The survey consisted of demographics information, the Patient Reported Outcomes Measurement Information System (PROMIS) Pain-Behavior, PROMIS Pain-Interference, and Neuro QOL Satisfaction with Social Roles and Activities scales, as well as a modified version of the Pain Management Strategies Survey. RESULTS: Respondents reported having to seek out confirmation of their EDS diagnosis with multiple healthcare providers, which implies the difficulty many people with EDS face when trying to gain access to appropriate treatment. Patients with EDS experience higher levels of pain interference and lower satisfaction with social roles and activities compared to national norms. Among the treatment modalities in this study, those perceived as most helpful for acute pain control were opioids, surgical interventions, splints and braces, avoidance of potentially dangerous activities and heat therapy. Chronic pain treatments rated as most helpful were opioids, splints or braces and surgical interventions. For methods used for both acute and chronic pain, those perceived as most helpful were opioids, massage therapies, splints or braces, heat therapy and avoiding potentially dangerous activities. CONCLUSIONS: EDS is a complex, multi-systemic condition that can be difficult to diagnose and poses challenges for healthcare practitioners who engage with EDS patients in holistic care. Improved healthcare provider knowledge of EDS is needed, and additional research on the co-occurring diagnoses with EDS may assist in comprehensive pain management for EDS patients. IMPLICATIONS FOR REHABILITATION: Ehlers-Danlos Syndrome (EDS) is a group of connective tissue disorders associated with defective production of collagen, which can dramatically reduce musculoskeletal functioning by symptoms of joint laxity and frequent dislocations eventually leading to disability. Respondents to an on-line survey reported having to seek out confirmation of their EDS diagnosis with multiple physicians, which implies the difficulty many people with EDS face when trying to gain access to appropriate treatment. Participants with EDS reported the most helpful methods for managing acute pain were opioids, surgical interventions, splints and braces, heat therapy, nerve blocks and physical therapy, while chronic pain was treated most effectively with opioids, heat therapy, splints or braces and surgical interventions.

Medication, surgery, and physiotherapy among patients with the hypermobility type of Ehlers-Danlos syndrome.

OBJECTIVES: To describe medication use, surgery, and physiotherapy, and to examine the effect of these treatment modalities on functional impairment and amount of complaints among patients with the hypermobility type of Ehlers-Danlos syndrome (EDS-HT). DESIGN: Cross-sectional study. SETTING: Physical and rehabilitation medicine department and center for medical genetics. PARTICIPANTS: Patients with EDS-HT (N=79; 8 men, 71 women) were recruited for this study. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: Patients filled out questionnaires regarding type of complaints, medication use, surgery, physiotherapy, and outcome of treatment. Functional impairment in daily life was measured by the Sickness Impact Profile. Pain severity was assessed with visual analog scales. RESULTS: Patients reported a large number of complaints, a considerable presence of severe pain, and a clinically significant impact of disease on daily functioning. Most patients (92.4%) used medications, among which analgesics were the most prevalent. Fifty-six patients (70.9%) underwent surgery, including mainly interventions of the extremities and abdomen. Forty-one patients (51.9%) are currently enrolled in a physical therapy program, mainly comprising neuromuscular exercises, massage, and electrotherapy. Patients with a high consumption of analgesics, who visited the physiotherapist, or who underwent surgery had a higher dysfunction in daily life. Only 33.9% of the patients who underwent surgery and 63.4% of patients in physical therapy reported a positive outcome. CONCLUSIONS: Patients with EDS-HT have numerous complaints and an impaired functional status that strongly determine their high rate of treatment consumption. The outcome of surgical and physiotherapy treatment is disappointing in a large percentage, which illustrates a strong need for evidence-based therapy.

Ehlers-Danlos syndrome and wound healing: injury in a collagen disorder.

Ehlers-Danlos syndrome (EDS) is a rare familial disorder affecting the production, quality and strength of collagen. It presents in many forms, and many individuals experience hypermobile joints and soft, elastic skin. When injury occurs, EDS can result in severe bruising, the development of wide open wounds and delayed healing (Babak et al, 2003). In the case discussed, Lilly, a 10-year-old girl, presented with a wide trauma injury to her lower leg. Healing was influenced by the poor collagen production associated with EDS, and the presence of a high bacterial burden that resulted in infection. Manuka honey was used to reduce the level of invading bacilli and stimulate production of collagen. Following this intervention, complete healing was achieved in two weeks. The action of manuka honey appears to be beneficial in the management of complex wounds, and further research is needed to determine its value in EDS. Involvement of Lilly and her family in clinical decision-making and in the production of this article resulted in a growth in understanding for all parties and the development of a relationship that optimized the nurse/patient experience.

Difficult intubation during rapid sequence induction in a parturient with Ehlers-Danlos syndrome, hypermobility type.

There have been several reports of resistance to local anaesthetic agents in women with Ehlers-Danlos syndrome, hypermobility type, also known as Ehlers-Danlos syndrome Type III. General anaesthesia with rapid sequence induction was performed for caesarean section due to prolonged second stage of labour, but intubation proved to be difficult. We propose that intubation difficulty probably arose from collapse of fibro-elastic tissues and adjoining C-shaped cartilages of the trachea with appropriately applied cricoid pressure. We found no other case reports of difficult intubation in patients with Ehlers-Danlos syndrome, hypermobility type. There are reports of cervical spine instability and temporomandibular joint dysfunction in patients with this syndrome suggesting a potential for difficult airway management. Additional anaesthetic problems associated with Ehlers-Danlos syndrome involve patient positioning and vascular access.

Patients with Ehlers Danlos syndrome and CRPS: a possible association?

Rare patients are left with chronic pain, vasodysregulation, and other symptoms that define complex regional pain syndrome (CRPS), after limb traumas. The predisposing factors are unknown. Genetic factors undoubtedly contribute, but have not yet been identified. We report four CRPS patients also diagnosed with the classical or hypermobility forms of Ehlers Danlos syndrome (EDS), inherited disorders of connective tissue. These patients had been diagnosed using standard diagnostic criteria for CRPS and for EDS. All had sustained joint injury; in three this had been surgically treated. The association of these two diagnoses leads us to hypothesize that EDS might contribute to the development of CRPS in one or more of the following ways: via stretch injury to nerves traversing hypermobile joints, increased fragility of nerve connective tissue, or nerve trauma from more frequent surgery. We review the clinical presentation of the different Ehlers Danlos syndromes and provide clinical criteria that can be used to screen CRPS patients for EDS for clinical or research purposes.

Chiropractic management of Ehlers-Danlos syndrome: a report of two cases.

OBJECTIVE: To discuss 2 patients with Ehlers-Danlos syndrome seeking chiropractic evaluation and management of their disabling musculoskeletal pain and associated disorders. CLINICAL FEATURES: Two disabled patients diagnosed with Ehlers-Danlos syndrome had spinal pain, including neck and back pain, headache, and extremity pain. Commonalities among these 2 cases included abnormal spinal curvatures (kyphosis and scoliosis), joint hypermobility, and tissue fragility. One patient had postsurgical thoracolumbar spinal fusion (T11-sacrum) for scoliosis and osteoporosis. The other patient had moderate anterior head translation. INTERVENTION AND OUTCOME: Both patients were treated with mechanical force and manually assisted spinal adjustments delivered to various spinal segments and extremities utilizing an Activator II Adjusting Instrument and Activator Methods Chiropractic Technique. Patients were also given postural advice, stabilization exercises, and postural corrective exercises, as indicated in Chiropractic BioPhysics Technique protocols. Both patients were able to reduce pain and anti-inflammatory medication usage in association with chiropractic care. Significant improvement in self-reported pain and disability as measured by visual analog score, Oswestry Low-Back Disability Index, and Neck Pain Disability Index were reported, and objective improvements in physical examination and spinal alignment were also observed following chiropractic care. Despite these improvements, work disability status remained unchanged in both patients. CONCLUSION: Chiropractic care may be of benefit to some patients with connective tissue disorders, including Ehlers-Danlos syndrome. Low-force chiropractic adjusting techniques may be a preferred technique of choice in patients with tissue fragility, offering clinicians a viable alternative to traditional chiropractic care in attempting to minimize risks and/or side effects associated with spinal manipulation. Psychosocial issues, including patient desire to return to work, were important factors in work disability status and perceived outcome.

Pseudoatrial flutter: artifact simulating atrial flutter caused by a transcutaneous electrical nerve stimulator (TENS).

A patient with previous actual atrial flutter had what appeared to be atrial flutter seen on Holter monitoring during treatment with a transcutaneous electrical nerve stimulation (TENS) unit. This proved to be artifact caused by the unit rather than a true arrhythmia. The artifact was reproduced in a normal volunteer by application of a TENS unit.