Sagittal adjusting screws for the correction of grade IV spondylolisthesis in a patient with Ehlers-Danlos syndrome: illustrative case

BACKGROUND Ehlers-Danlos syndrome (EDS) and its connective tissue laxity often result in high-grade lumbosacral spondylolisthesis. Patients present with debilitating symptoms and neurological deficits. Reports of surgical techniques in non-EDS patients for the treatment of high-grade lumbosacral spondylolisthesis mainly described an open approach, multilevel fusions, and multiple stages with different circumferential approaches. Sagittal adjusting screws (SASs) can be used in a minimally invasive (MI) fashion, allowing intraoperative reduction. OBSERVATIONS A 17-year-old female with EDS presented to the authors’ institute with severe lower back and left L5 radicular pain in 2017. She presented with a left foot drop and difficulty ambulating. Magnetic resonance imaging showed grade IV L5–S1 spondylolisthesis. She underwent lumbar fusion for intractable back pain with radiculopathy. Intraoperatively, percutaneous SASs and extension towers were used to distract the L5–S1 disc space and reduce the spondylolisthesis. MI transforaminal lumbar interbody fusion was completed with significant symptomatic relief postoperatively. The patient was discharged to home 3 days postoperatively. Routine follow-up visits up to 3 years later demonstrated solid fusion radiographically and favorable patient-reported outcomes. LESSONS The authors used SASs in a MI approach to successfully correct and stabilize grade IV spondylolisthesis in an EDS patient with a favorable long-term patient-reported outcome.

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Laryngological presentations and patient-reported outcome measures in Ehlers–Danlos syndrome

The Journal of Laryngology & Otology ◽

10.1017/s0022215121004072 ◽

2021 ◽

pp. 1-13

Author(s):

C M Lam ◽

G Wood ◽

M A Birchall

Keyword(s):

Outcome Measures ◽

Patient Reported Outcome Measures ◽

Patient Reported Outcome ◽

Ehlers Danlos Syndrome ◽

Patient Reported ◽

Danlos Syndrome

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Ehlers–Danlos Syndrome and Hypermobility Syndrome Compared with Other Common Chronic Pain Diagnoses—A Study from the Swedish Quality Registry for Pain Rehabilitation

Journal of Clinical Medicine ◽

10.3390/jcm9072143 ◽

2020 ◽

Vol 9 (7) ◽

pp. 2143 ◽

Cited By ~ 1

Author(s):

Peter Molander ◽

Mehmed Novo ◽

Andrea Hållstam ◽

Monika Löfgren ◽

Britt-Marie Stålnacke ◽

...

Keyword(s):

Chronic Pain ◽

Pain Intensity ◽

Spinal Pain ◽

Patient Reported Outcome Measures ◽

Patient Reported Outcome ◽

Ehlers Danlos Syndrome ◽

Quality Registry ◽

Quality Register ◽

Patient Reported ◽

Danlos Syndrome

Although chronic pain is common in patients with Ehlers–Danlos syndrome (EDS) and hypermobility syndromes (HMS), little is known about the clinical characteristics of these groups. The main aim was to compare EDS/HMS with common local and generalized pain conditions with respect to Patient Reported Outcome Measures (PROMs). Data from the Swedish Quality Register for Chronic Pain (SQRP) from 2007 to 2016 (n = 40,518) were used, including patients with EDS/HMS (n = 795), fibromyalgia (n = 5791), spinal pain (n = 6693), and whiplash associated disorders (WAD) (n = 1229). No important differences in the PROMs were found between EDS and HMS. Women were represented in > 90% of EDS/HMS cases and fibromyalgia cases, and in about 64% of the other groups. The EDS/HMS group was significantly younger than the others but had a longer pain duration. The pain intensity in EDS/HMS was like those found in spinal pain and WAD; fibromyalgia had the highest pain intensity. Depressive and anxiety symptoms were very similar in the four groups. Vitality—a proxy for fatigue—was low both in EDS/HMS and fibromyalgia. The physical health was lower in EDS/HMS and fibromyalgia than in the two other groups. Patients with EDS/HMS were younger, more often female, and suffered from pain for the longest time compared with patients who had localized/regional pain conditions. Health-care clinicians must be aware of these issues related to EDS/HMS both when assessing the clinical presentations and planning treatment and rehabilitation interventions.

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RARE CAUSES OF SPONTANEOUS PNEUMOTHORAX: TWO CASE REPORTS

Trakia Journal of Sciences ◽

10.15547/tjs.2021.02.015 ◽

2021 ◽

Vol 19 (2) ◽

pp. 200-204

Author(s):

V. Hadzhiminev V. Hadzhiminev

Keyword(s):

Spontaneous Pneumothorax ◽

Clinical Laboratory ◽

Case Reports ◽

Genetic Disorders ◽

Surgical Techniques ◽

Neurofibromatosis Type ◽

Imaging Findings ◽

Ehlers Danlos Syndrome ◽

Danlos Syndrome

Secondary spontaneous pneumothorax (SSP) may be a result of different rare diseases. In the following article are presented two interesting cases of SSP related to genetic disorders – Ehlers-Danlos syndrome (EDS) and Neurofibromatosis type 1 (NF-1). We share our clinical, laboratory and imaging findings as well as the surgical techniques we used and the postoperative complications we had. We performed a detailed literature review on this topic.

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Pelvic Girdle Pain, Hypermobility Spectrum Disorder and Hypermobility-Type Ehlers-Danlos Syndrome: A Narrative Literature Review

Journal of Clinical Medicine ◽

10.3390/jcm9123992 ◽

2020 ◽

Vol 9 (12) ◽

pp. 3992

Author(s):

Ahmed Ali ◽

Paul Andrzejowski ◽

Nikolaos K. Kanakaris ◽

Peter V. Giannoudis

Keyword(s):

Pelvic Ring ◽

Patient Reported Outcome Measures ◽

Pelvic Girdle ◽

Spectrum Disorder ◽

Pelvic Girdle Pain ◽

Treatment Modalities ◽

Ehlers Danlos Syndrome ◽

Ongoing Research ◽

Patient Reported ◽

Danlos Syndrome

Pelvic girdle pain (PGP) refers specifically to musculoskeletal pain localised to the pelvic ring and can be present at its anterior and/or posterior aspects. Causes such as trauma, infection and pregnancy have been well-established, while patients with hypermobile joints are at greater risk of developing PGP. Research exploring this association is limited and of varying quality. In the present study we report on the incidence, pathophysiology, diagnostic and treatment modalities for PGP in patients suffering from Hypermobility Spectrum Disorder (HSD) and Hypermobility-Type Ehlers-Danlos Syndrome (hEDS). Recommendations are made for clinical practice by elaborating on screening, diagnosis and management of such patients to provide a holistic approach to their care. It appears that this cohort of patients are at greater risk particularly of mental health issues. Moreover over, they may require a multidisciplinary approach for their management. Ongoing research is still required to expand our understanding of the relationship between PGP, HSD and hEDS by appropriately diagnosing patients using the latest updated terminologies and by conducting randomised control trials to compare outcomes of interventions using standardised patient reported outcome measures.

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Outcomes following surgical management of femoroacetabular impingement: a systematic review and meta-analysis of different surgical techniques

Bone and Joint Research ◽

10.1302/2046-3758.109.bjr-2020-0443.r1 ◽

2021 ◽

Vol 10 (9) ◽

pp. 574-590

Author(s):

Daniel Addai ◽

Jacqueline Zarkos ◽

Matthew Pettit ◽

Karadi Hari Sunil Kumar ◽

Vikas Khanduja

Keyword(s):

Systematic Review ◽

Surgical Management ◽

Femoroacetabular Impingement ◽

Meta Analysis ◽

Surgical Techniques ◽

Hip Dislocation ◽

Open Approach ◽

Patient Reported ◽

Significant Correction ◽

Α Angle

Outcomes following different types of surgical intervention for femoroacetabular impingement (FAI) are well reported individually but comparative data are deficient. The purpose of this study was to conduct a systematic review (SR) and meta-analysis to analyze the outcomes following surgical management of FAI by hip arthroscopy (HA), anterior mini open approach (AMO), and surgical hip dislocation (SHD). This SR was registered with PROSPERO. An electronic database search of PubMed, Medline, and EMBASE for English and German language articles over the last 20 years was carried out according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. We specifically analyzed and compared changes in patient-reported outcome measures (PROMs), α-angle, rate of complications, rate of revision, and conversion to total hip arthroplasty (THA). A total of 48 articles were included for final analysis with a total of 4,384 hips in 4,094 patients. All subgroups showed a significant correction in mean α angle postoperatively with a mean change of 28.8° (95% confidence interval (CI) 21 to 36.5; p < 0.01) after AMO, 21.1° (95% CI 15.1 to 27; p < 0.01) after SHD, and 20.5° (95% CI 16.1 to 24.8; p < 0.01) after HA. The AMO group showed a significantly higher increase in PROMs (3.7; 95% CI 3.2 to 4.2; p < 0.01) versus arthroscopy (2.5; 95% CI 2.3 to 2.8; p < 0.01) and SHD (2.4; 95% CI 1.5 to 3.3; p < 0.01). However, the rate of complications following AMO was significantly higher than HA and SHD. All three surgical approaches offered significant improvements in PROMs and radiological correction of cam deformities. All three groups showed similar rates of revision procedures but SHD had the highest rate of conversion to a THA. Revision rates were similar for all three revision procedures.

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1221 Flumazenil for the treatment of hypersomnolence and fatigue in a patient with Ehlers-Danlos syndrome with multiple cardiac comorbidities

SLEEP ◽

10.1093/sleep/zsaa056.1215 ◽

2020 ◽

Vol 43 (Supplement_1) ◽

pp. A466-A467

Author(s):

Donna Lea Pepito ◽

Leslie Markun ◽

Ajay Sampat

Keyword(s):

Excessive Daytime Sleepiness ◽

Daytime Sleepiness ◽

Orthostatic Intolerance ◽

Ehlers Danlos Syndrome ◽

Postural Tachycardia ◽

Obstructive Sleep ◽

Patient Reported ◽

High Prevalence ◽

Work Up ◽

Danlos Syndrome

Abstract Introduction Ehlers-Danlos syndrome (EDS) is a genetically inherited connective tissue disorder which has a high prevalence of sleep conditions, including obstructive sleep apnea, insomnia, fatigue, and hypersomnia., Chronic fatigue is an important factor in the impaired quality of life in patients with EDS. Successful treatment of fatigue and hypersomnia with traditional wake-promoting medications and stimulants is limited, due to the high prevalence of postural tachycardia, orthostatic intolerance, and other cardiac conditions in these patients. We present a case of EDS with underlying cardiac comorbidities, hypersomnia and fatigue who had significant improvement in excessive daytime sleepiness after treatment with flumazenil. Report of Case A 19 yoF with PMH of Ehlers-Danlos syndrome, postural tachycardia syndrome (POTS), autonomic instability and well-controlled depression presented with symptoms of fatigue and excessive daytime sleepiness (ESS of 17/24) despite obtaining 10-15 hours of sleep each day. Polysomnogram followed by MSLT was notable for borderline excessive sleepiness without other abnormalities (PSG: AHI 3/hr, SpO2 nadir 92%; MSLT: 0 SOREMS, mean sleep latency 10 minutes). Prior autonomic and cardiac work-up revealed POTS (maximum HR 180 bpm), orthostatic intolerance and aortic root dilatation. Physical exam and previous laboratory work up for fatigue were unremarkable. A trial of flumazenil 6 mg lozenge every 4-6 hours, as needed for sleepiness, was initiated. On her subsequent visit 6 months later, patient reported 50% improvement in symptoms of fatigue and sleepiness, with decrease in ESS from 17 to 5. No adverse effects to flumazenil were reported. Conclusion Flumazenil is a gamma-aminobutyric acid (GABA)-A receptor antagonist that has been previously documented to provide sustained clinical benefit in treatment-refractory hypersomnolence. This case report highlights a successful alternative treatment option for hypersomnolence in patients with EDS and cardiac comorbidities, in which traditional wake-promoting agents and stimulants may be contraindicated.

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Arthroscopic Ligamentum Teres Reconstruction: Minimum 2-Year Patient-Reported Outcomes With Subanalysis of Patients With Ehlers-Danlos Syndrome

Arthroscopy The Journal of Arthroscopic and Related Surgery ◽

10.1016/j.arthro.2020.04.028 ◽

2020 ◽

Vol 36 (8) ◽

pp. 2170-2182 ◽

Cited By ~ 1

Author(s):

Philip J. Rosinsky ◽

Shawn Annin ◽

David R. Maldonado ◽

Cynthia Kyin ◽

Mitchell B. Meghpara ◽

...

Keyword(s):

Patient Reported Outcomes ◽

Ligamentum Teres ◽

Ehlers Danlos Syndrome ◽

Patient Reported ◽

Danlos Syndrome

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Dysautonomia in hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders is associated with exercise intolerance and cardiac atrophy

10.1101/2021.02.08.21251338 ◽

2021 ◽

Author(s):

Tania Ruiz Maya ◽

Veronica Fettig ◽

Lakshmi Mehta ◽

Bruce D. Gelb ◽

Amy R. Kontorovich

Keyword(s):

Physical Activity ◽

Joint Hypermobility ◽

Exercise Intolerance ◽

Activity Levels ◽

Ehlers Danlos Syndrome ◽

Cardiac Atrophy ◽

Patient Reported ◽

Echocardiographic Parameters ◽

And Function ◽

Danlos Syndrome

AbstractDysautonomia is a recognized manifestation in patients with joint hypermobility (JH) disorders. Symptoms can be highly debilitating and commonly include physical deconditioning and poor aerobic fitness. In this study, the prevalence of dysautonomia, range of associated symptoms, patient-reported physical activity levels and echocardiographic features were assessed retrospectively in a cohort of 144 patients (94% female) with hypermobile Ehlers-Danlos syndrome (hEDS) or hypermobility spectrum disorder (HSD). Echocardiographic parameters of LV size and function were compared between patients with and without dysautonomia, as well as to reported values from healthy controls. Dysautonomia was identified in 71% of female and 56% of male subjects and was associated with a high burden of symptomatology, most commonly exercise intolerance (78%). Exercise capacity was limited by dysautonomia, often postural symptoms, in half of all patients. We observed a reduction in physical activity following the onset or significant flare of hEDS/HSD, most strikingly noting the proportion of dysautonomic patients with sedentary lifestyle, which increased from 39% to >80%. JH-related dysautonomia was associated with smaller cardiac chamber sizes, consistent with previous reports in positional orthostatic tachycardia syndrome. Dysautonomia is highly prevalent in patients with hEDS/HSD, exercise intolerance is a key feature and leads to drastic decline in physical activity. Unfavorable cardiac geometry may underlie dysautonomia symptoms and may be due to cardiac atrophy in the setting of aerobic deconditioning.

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