Craniocervical instability in patients with Ehlers-Danlos syndromes: outcomes analysis following occipito-cervical fusion.

Craniocervical instability (CCI) is increasingly recognized in hereditary disorders of connective tissue and in some patients following suboccipital decompression for Chiari malformation (CMI) or low-lying cerebellar tonsils (LLCT). CCI is characterized by severe headache and neck pain, cervical medullary syndrome, lower cranial nerve deficits, myelopathy, and radiological metrics, for which occipital cervical fusion (OCF) has been advocated. We conducted a retrospective analysis of patients with CCI and Ehlers-Danlos syndrome (EDS) to determine whether the surgical outcomes supported the criteria by which patients were selected for OCF. Fifty-three consecutive subjects diagnosed with EDS, who presented with severe head and neck pain, lower cranial nerve deficits, cervical medullary syndrome, myelopathy, and radiologic findings of CCI, underwent open reduction, stabilization, and OCF. Thirty-two of these patients underwent suboccipital decompression for obstruction of cerebral spinal fluid flow. Questionnaire data and clinical findings were abstracted by a research nurse. Follow-up questionnaires were administered at 5-28 months (mean 15.1). The study group demonstrated significant improvement in headache and neck pain (p < 0.001), decreased use of pain medication (p < 0.0001), and improved Karnofsky Performance Status score (p < 0.001). Statistically significant improvement was also demonstrated for nausea, syncope (p < 0.001), speech difficulties, concentration, vertigo, dizziness, numbness, arm weakness, and fatigue (p = 0.001). The mental fatigue score and orthostatic grading score were improved (p < 0.01). There was no difference in pain improvement between patients with CMI/LLCT and those without. This outcomes analysis of patients with disabling CCI in the setting of EDS demonstrated significant benefits of OCF. The results support the reasonableness of the selection criteria for OCF. We advocate for a multi-center, prospective clinical trial of OCF in this population.

Bilateral Patellofemoral Ligament Reconstruction for Patellar Instability in Ehlers-Danlos Syndrome: A Case Report.

CASE: We report the case of an 11-year-old boy with Ehlers-Danlos syndrome (EDC) who exhibited simultaneous medial and lateral patellar instability. The patient presented with a medial patellar dislocation, and subsequently, the patella became very unstable both medially and laterally. Despite distal realignment, the patellar instability was so significant that he underwent simultaneous reconstruction of the medial and lateral patellofemoral ligament using the semitendinosus tendon, with a good result. CONCLUSION: Simultaneous reconstruction of the medial and lateral patellofemoral ligament is an effective method in cases of extreme patellar instability, such as the EDS case.

Vascular Injury After Scoliosis Correction in Ehlers-Danlos Syndrome: Proceed With Caution.

Ehlers-Danlos syndrome (EDS) is a rare inherited connective tissue disorder characterized by collagen synthesis disruption, resulting in joint hyperlaxity, skin and vascular fragility, and bleeding diathesis. Patients with EDS are susceptible to spinal deformities, with scoliosis accounting for up to 23.4% of musculoskeletal abnormalities. Conservative management is often trialed initially; however, severe scoliosis can lead to significant sagittal imbalance and cardiopulmonary compromise. Surgical intervention for scoliosis correction in patients with EDS presents unique challenges because of tissue fragility and an increased risk of vascular and wound complications. This case report discusses a 20-year-old man with type II EDS and scoliosis, who experienced retroperitoneal compartment syndrome, significant left lower extremity weakness, and loss of sensation after scoliosis correction surgery. The report also provides an overview of the existing literature on scoliosis surgery outcomes in patients with EDS, highlighting the need for heightened vigilance and cautious surgical approaches.

Manejo odontológico de pacientes con el síndrome de Ehlers-Danlos: revisión narrativa / Dental management in patients with Ehlers-Danlos syndrome: a narrative review

El síndrome de Ehlers-Danlos es una enfermedad heredita- ria, producida por mutaciones cromosómicas que pueden llegar a tener un comportamiento autosómico dominante, recesivo o ligado al cromosoma X. Se caracteriza por defectos en las enzi- mas encargadas de la estructura y síntesis de colágeno. En vista de los 20 tipos de colágeno que existen, este síndrome es extre- madamente heterogéneo tanto en su presentación clínica como en su progresión y evolución. Dentro de los signos y síntomas habituales encontramos la hiperlaxitud articular, hiperelastici- dad de la piel e hiperequimosis de los vasos sanguíneos. Con relación a las complicaciones que pueden presentar es- tos pacientes, encontramos dislocaciones articulares, fragilidad en la piel, dolor articular, ruptura de grandes vasos sanguíneos, dificultad en la cicatrización y, en consecuencia, mayor inci- dencia de procesos infecciosos y de cicatrices poco estéticas. Presenta una incidencia de 1 caso cada 2.500-5.000 na- cidos vivos. Por ello, es fundamental que el odontólogo se encuentre familiarizado con el manejo médico-dental de estos pacientes, a fin de estar preparado para brindarles un trata- miento adecuado y responder ante las posibles complicacio- nes que se pueden presentar. En esta revisión se emplearon resultados extraídos manual- mente de artículos, indexados en las bases de datos PUBMED y EBSCO, que respondían a la búsqueda de los términos Ehlers-Danlos syndrome, dental management y oral surgery. El objetivo fue describir el manejo médico-odontológico del paciente con síndrome de Ehlers-Danlos hasta la fecha (AU)

Ehlers-Danlos syndrome is a hereditary disease, produced by chromosomal mutations that can have an autosomal behavior, which can be dominant, recessive or X-linked. It is characterized by defects in the enzymes responsible for the structure and syn- thesis of collagen. In view of the 20 existent types of collagen, this syndrome is extremely heterogeneous in its clinical presentation, as well as in its progression and evolution. Within the usual signs and symptoms, we find joint hyperlaxity, skin hyperelasticity and hyper-ecchymosis of the blood vessels. Regarding the complications that these patients can pres- ent, we find joint dislocations, skin fragility, joint pain, rupture of large blood vessels, difficulty in healing and, consequently, a higher incidence of infectious processes and unsightly scars. It presents an incidence of 1 case every 2.500-5.000 live births. Therefore, it is essential that the dentist is familiar with the medical-dental management of these patients, in order to be prepared to provide them with adequate treatment and re- spond to possible complications that may arise. In this review, results were manually extracted from ar- ticles, indexed in the PUBMED and EBSCO databases, that respond to the search for the terms Ehlers-Danlos syndrome, dental management and oral surgery. The aim was describing the medical-dental management of patients with Ehlers-Dan- los syndrome to date (AU)

Perioperative opioid-minimization approach as a useful protocol in the management of patients with Ehlers-Danlos syndrome-hypermobility type, craniocervical instability and severe chronic pain who are to undergo occipito-cervical fixation.

Patients suffering from connective tissue disorders like Ehlers-Danlos syndrome hypermobility type/joint hypermobility syndrome (EDS-HT/JHS) may be affected by craniocervical instability (CCI). These patients experience myalgic encephalomyelitis, chronic fatigue, depression, extreme occipital-cervical pain, and severe widespread pain that is difficult to relieve with opioids. This complex and painful condition can be explained by the development of chronic neuroinflammation, opioid-induced hyperalgesia, and central sensitization. Given the challenges in treating such severe physical pain, we evaluated all the analgesic methods previously used in the perioperative setting, and updated information was presented. It covers important physiopathological aspects for the perioperative care of patients with EDS-HT/JHS and CCI undergoing occipital-cervical/thoracic fixation/fusion. Moreover, a change of paradigm from the current opioid-based management of anesthesia/analgesia in these patients to the perioperative opioid minimization strategies used by the authors was analyzed and proposed as follow-up considerations from our previous case series. These strategies are based on total-intravenous opioid-free anesthesia, multimodal analgesia, and a postoperative combination of anti-hyperalgesic coadjuvants (lidocaine, ketamine, and dexmedetomidine) with an opioid-sparing effect.

Growing skull fracture in a child with Ehlers-Danlos syndrome: case report and literature review.

INTRODUCTION: Growing skull fracture (GSF) is a rare complication of head trauma in the pediatric population, commonly observed in children younger than 3 years. DISCUSSION: In this report, the authors describe a case of a 3-year-old male child, with clinical features of Ehlers-Danlos syndrome (EDS), who developed a GSF in frontal bone after a crib fall, treated with duraplasty and cranioplasty with autologous craft. Here, pertinent literature was reviewed with an emphasis on surgical techniques, and correlation with the mentioned syndrome. CONCLUSION: This is the first case of GSF in association with EDS in the literature. The relevance of the case described concerns the rarity of the condition itself, the atypical presentation, and the intraoperative findings, which showed the important fragility of the dura mater, probably due to EDS. Therefore, this syndrome, besides having influenced the pathogenesis, was also a challenging factor in the surgical treatment.

Detailed Courses and Pathological Findings of Colonic Perforation without Diverticula in Sisters with Musculocontractural Ehlers-Danlos Syndrome Caused by Pathogenic Variant in CHST14 (mcEDS-CHST14).

Musculocontractural Ehlers-Danlos syndrome (mcEDS) is a heritable connective tissue disorder characterized by multiple congenital malformations and progressive connective-tissue-fragility-related manifestations in the cutaneous, skeletal, cardiovascular, visceral, ocular, and gastrointestinal systems. It is caused by pathogenic variants in the carbohydrate sulfotransferase 14 gene (mcEDS-CHST14) or in the dermatan sulfate epimerase gene (mcEDS-DSE). As gastrointestinal complications of mcEDS-CHST14, diverticula in the colon, small intestine, or stomach have been reported, which may lead to gastrointestinal perforation, here, we describe sisters with mcEDS-CHST14, who developed colonic perforation with no evidence of diverticula and were successfully treated through surgery (a resection of perforation site and colostomy) and careful postoperative care. A pathological investigation did not show specific abnormalities of the colon at the perforation site. Patients with mcEDS-CHST14 aged from the teens to the 30s should undergo not only abdominal X-ray photography but also abdominal computed tomography when they experience abdominal pain.

Obturator Anterior Dislocation After Direct Anterior Total Hip Arthroplasty in a Patient with Ehlers-Danlos Syndrome: A Case Report.

CASE: A 71-year-old woman with Ehlers-Danlos syndrome suffered an atraumatic obturator dislocation status post direct anterior total hip arthroplasty. A closed reduction under conscious sedation was attempted, but was unsuccessful. Repeat closed reduction under full general anesthesia with paralysis and fluoroscopic guidance was successful at reducing the femoral prosthesis out of the pelvis and back into an appropriate position. CONCLUSION: Atraumatic obturator dislocations after total hip arthroplasty are exceedingly rare. General anesthesia with full paralysis is helpful for a successful closed reduction, and open reduction may be necessary to remove the femoral prosthesis from the pelvis.

Management of Hemorrhage During Cesarean Delivery in a Patient With Vascular Ehlers-Danlos Syndrome: A Case Report.

Parturients with vascular Ehlers-Danlos syndrome are at particular risk of hemorrhage, and there is little evidence to guide prevention or management of hemorrhage in these patients. We present the case of a patient with vascular Ehlers-Danlos syndrome who had a cesarean delivery complicated by an intraoperative hemorrhage. Administration of desmopressin and tranexamic acid appeared to be of marked benefit in achieving hemostasis. To the best of our knowledge, this is the first report of the use of desmopressin during major obstetric hemorrhage in vascular Ehlers-Danlos syndrome.

Neuroendovascular Procedures in Patients with Ehlers-Danlos Type IV: Multicenter Case Series and Systematic Review.

BACKGROUND: Ehlers-Danlos type IV or vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited disorder characterized by profound vascular fragility resulting from defective production of type III procollagen. Cerebrovascular diseases including spontaneous dissections, cerebral aneurysms, and cavernous carotid fistulae are common. Endovascular therapies in this patient population are known to be higher risk, although many studies (before 2000) involved older techniques and equipment. The purpose of this study is to investigate the safety and efficacy of modern neuroendovascular techniques in the treatment of cerebrovascular diseases in patients with vEDS. METHODS: We combined a multi-institutional retrospective case series at 3 quaternary-care centers with a systematic literature review of individual case reports and case series spanning 2000-2021 to evaluate the safety and efficacy of neuroendovascular procedure in patients with vEDS with cerebrovascular diseases. RESULTS: Fifty-nine patients who underwent 66 neuroendovascular procedures were evaluated. Most of the patients had direct cavernous carotid fistulas (DCCF). Neuroendovascular procedures had a 94% success rate, with a complication rate of 30% and a mortality of 7.5%. CONCLUSIONS: Neuroendovascular procedures can be performed with a high rate of success in the treatment of cerebrovascular diseases in patients with vEDS, although special care is required because complication rates and mortality are high. Access site and procedure-related vascular injuries remain a significant hurdle in treating vEDS with cerebrovascular diseases, even with modern techniques.

Clinical Considerations of Ehlers-Danlos Syndrome for Implant Dentistry: Two Case Reports.

Ehlers-Danlos Syndrome (EDS) is a group of congenital connective tissue disorders that commonly affect joints, muscles, soft tissue, and blood circulation in the affected population. Many oral manifestations are displayed in EDS patients that can include gingival recession, lack of attached gingiva, early severe periodontal disease, and dental caries. However, the literature is limited and oftentimes contradictory regarding dental implants in EDS patients. The aim of this study is to report two successful cases of implants placed in EDS patients, one treated with bone augmentation and both restored with prosthetic implant rehabilitations. Int J Periodontics Restorative Dent 2023;43:e81-e87. doi: 10.11607/prd.5842.

Craniocervical instability in patients with Ehlers-Danlos syndrome: controversies in diagnosis and management.

Ehlers-Danlos syndrome (EDS) is a rare hereditary condition that can result in ligamentous laxity and hypermobility of the cervical spine. A subset of patients can develop clinical instability of the craniocervical junction associated with pain and neurological dysfunction, potentially warranting treatment with occipitocervical fixation (OCF). Surgical decision-making in patients with EDS can be complicated by difficulty distinguishing from hypermobility inherent in the disease and true pathological instability necessitating intervention. Here we comprehensively review the available medical literature to critically appraise the evidence behind various proposed definitions of instability in the EDS population, and summarize the available outcomes data after OCF. Several radiographic parameters have been used, including the clivo-axial angle, basion-axial interval, and pB-C2 measurement. Despite increasing recognition of EDS by spine surgeons, there remains a paucity of data supporting proposed radiographic parameters for spinal instability among EDS patients. Furthermore, there is a lack of high-quality evidence concerning the efficacy of surgical treatments for chronic debilitating pain prevalent in this population. More standardized clinical measures and rigorous study methodologies are needed to elucidate the role of surgical intervention in this complex patient population.

Diseased Filum Terminale as a Cause of Tethered Cord Syndrome in Ehlers-Danlos Syndrome: Histopathology, Biomechanics, Clinical Presentation, and Outcome of Filum Excision.

BACKGROUND: Patients with hypermobile Ehlers-Danlos syndrome (hEDS), a heritable connective tissue disorder, present frequently with symptoms of tethered cord syndrome (TCS) but without a low-lying conus. Currently, surgical treatment of such cases is controversial. Because connective tissue disorder affects fibrous structures, we hypothesized that a diseased filum terminale (FT) might cause TCS in hEDS, justifying surgical transection for treatment. METHODS: We investigated FT pathology, FT biomechanics, clinical presentation, and outcome following FT excision in 78 radiologically occult hEDS-TCS cases and for comparison in 38 typical TCS cases with low-lying conus and/or fatty FT infiltration but without hEDS. RESULTS: In hEDS-TCS, electron microscopy revealed inherited collagen fibril abnormalities and acquired fibril damage. Biomechanical tension tests revealed elastic properties of the FT in both study groups, but they were impaired in the hEDS TCS. Follow-up examinations at 3 and 12 months after FT excision showed statistically significant improvement of urinary, bowel, and neurologic symptoms in both study groups; intergroup comparison revealed no differences in outcome except more pronounced neurologic improvement in the hEDS-TCS group. CONCLUSIONS: Both morphologic findings and biomechanical tests indicate limited elastic properties of the FT in hEDS, which is no more able to dampen but still transmitting spine movement-related stretch forces. That mechanism exposes the conus medullaris to unphysiologic stretch forces, causing TCS, especially when considering the hypermobile spine in hEDS. This notion is supported by the observed clinical improvement following FT resection in hEDS-TCS cases without a low-lying conus.

Double-bundle anterior cruciate ligament reconstruction using autologous hamstring tendon hybrid grafts in a patient with hypermobile Ehlers-Danlos Syndrome: A case report.

BACKGROUND: Ehlers-Danlos syndrome (EDS) is a connective tissue disorder characterized by skin hyperextensibility, joint hypermobility, and tissue friability. Hypermobile type Ehlers-Danlos syndrome (hEDS) is considered one of the EDS subtypes characterized by generalized joint hypermobility. Although there have been a few case reports which described surgical considerations for anterior cruciate ligament (ACL) reconstructions in patients with other types of EDS, no reports have described those in patients with hEDS. CASE PRESENTATION: We report a case of ACL injury in an 18-year-old male patient with hEDS. The patient was successfully treated with an anatomic double-bundle ACL reconstruction using autologous hamstring tendon hybrid grafts which consist of hamstring tendons connected in a series with commercially available polyester tape. The autogenous tendon portion of the anteromedial and posterolateral bundles were composed of 4 and 2 strands of hamstring tendons, respectively. After 2 weeks of knee joint immobilization, continuous passive motion exercise of the knee joint and partial weight-bearing was allowed. A hinged knee brace was used for a period of 5 months postoperatively. Second-look arthroscopy at 30 months showed that the ACL graft had no laceration and an excellent coverage of the synovium. At 36 months after surgery, the side-to-side differences in the anterior laxity was remarkably improved. The operated knee showed negative Lachman test and had a full range of motion. CONCLUSIONS: To the best of our knowledge, this represents the first report of anatomic double-bundle ACL reconstruction in patients with hEDS and demonstrates excellent clinical and functional outcomes.

Craniocervical Stabilization After Failed Chiari Decompression: A Case Series of a Population with High Prevalence of Ehlers-Danlos Syndrome.

BACKGROUND: In the treatment of Chiari malformation type I (CM-I), posterior fossa decompression is achieved via suboccipital craniectomy (SOC); however, some patients continue to experience symptoms after treatment, which may be due to craniocervical instability (CCI). The purposes of this study were to analyze data from patients who required an occipitocervical fusion (OCF) for the management of CCI after having previously undergone SOC for CM-I to determine if OCF is a safe and effective option and to determine any identifiable risk factors for CCI in these patients. METHODS: A retrospective review was done on all patients who underwent an OCF performed by the senior author between November 2013 and June 2020 after having previously undergone SOC for CM-I. Demographic, radiographic, perioperative, and outcome data were collected and clivoaxial angles (CXAs) were measured pre- and postoperatively. RESULTS: Fifteen patients were identified who developed symptomatic CCI after previously undergoing a suboccipital craniectomy for the treatment of CM-I. All 15 patients were treated by OCF with good outcome. Of these, 12 patients had a known diagnosis of Ehlers-Danlos syndrome (EDS). Overall, the CXAs of these patients were found to be corrected to a more anatomical alignment. CONCLUSIONS: Symptomatic CCI should be recognized as a delayed postoperative complication in the surgical treatment of CM-I, with an underlying connective tissue hypermobility disorder such as EDS serving as a potential risk factor its development. CCI can be managed with OCF as a safe and effective treatment option for this patient population.

Early and Late Outcomes of Cardiovascular Surgery in Patients With Ehlers-Danlos Syndrome.

BACKGROUND: Cardiovascular surgical outcomes reports are few for vascular type IV of Ehlers- Danlos Syndrome (vEDS) compared to non-vascular types I-III (nEDS). METHODS: To define cardiovascular surgical outcomes among adult patients (≥18 years) with EDS types, a review of our institution's in-house STS Adult Cardiac Surgery Database-compliant software and electronic medical records from Mayo Clinic (1993-2019) was performed. Outcomes were compared for vEDS patients and nEDS patients. Demographics, baseline characteristics, operative, in-hospital complications and follow-up vital status were analyzed. RESULTS: Over the study time frame, 48 EDS patients underwent surgery (mean age 52.6 ± 14.6 years; 48% females). Of these, 17 patients had vEDS and 31 patients had nEDS. Six patients (12.5%) underwent prior sternotomy. Urgent or emergent surgery was performed in 10 patients (20.8%). Aortic (vEDS 76.5% vs. nEDS 16.1%) and mitral procedures (vEDS 11.8% vs. nEDS 48.4%) were the two most common cardiovascular surgeries performed (p < .01 and p = .007, respectively). Cardiopulmonary bypass time (CPB) (165 ± 18 vs. 90 ± 13 min; p = .015) and aortic cross clamp times (140 ± 14 vs. 62 ± 10 min; p < .001) were longer for vEDS patients. There was 1 (2.1%) early and 7 (14.6%) late deaths; 6 among vEDS and 2 among nEDS patients. Survival at 5 (80% vs. 93%), 10 (45% vs. 84%) and 15 years (45% vs. 84%) was lower in patients with vEDS (p = .015 for each comparison). CONCLUSION: Cardiovascular surgeries are significantly more complex with longer bypass and cross clamp times for type IV vEDS compared to nEDS patients. Reduced overall survival underscores the complexity and fragility of vEDS patients.

Capsulorraphy with Achilles allograft augmentation for shoulder instability in patients with Ehlers-Danlos syndrome.

BACKGROUND: Surgical management of shoulder instability in patients with Ehlers-Danlos syndrome (EDS) remains challenging secondary to the pathologic nature of their connective tissue. Allograft reconstruction of the shoulder capsule in EDS has the potential to increase stability by providing healthier connective tissue. The purpose of this study was to report the surgical technique and outcome of open capsulorraphy and augmentation of the anterior capsule with an Achilles tendon allograft in patients with shoulder instability in the setting of EDS. METHODS: Five shoulders (4 patients) with EDS and severe anteroinferior or multidirectional instability underwent open capsular shift combined with Achilles allograft augmentation of the anterior capsule. Patients were evaluated for pain, motion, recurrent instability, subjective shoulder value, American Shoulder and Elbow Surgeons score, complications, and reoperations. The mean follow-up time was 3.6 years (range, 2-5 years). RESULTS: Shoulder stability was restored in 4 of 5 (80%) shoulders. At the final follow-up, the mean subjective shoulder value and American Shoulder and Elbow Surgeons scores were 84 and 77.3, respectively. One shoulder developed recurrent posterior instability after an injury 1.6 years after the index procedure. The mean pain visual analog scale was 7 preoperatively and 2 at the most recent follow-up. Before surgery, all patients reported the use of narcotic pain medication, whereas at the most recent follow-up, only the one patient who had experienced recurrence reported moderate pain. Except for the shoulder that required revision surgery for posterior shoulder instability, there were no complications or other reoperations. CONCLUSION: Open capsulorraphy with Achilles allograft augmentation improved stability and pain in 4 of 5 shoulders with instability in the setting of EDS. In this small case series of patients with EDS, Achilles tendon allograft augmentation was safe and effective as a primary or revision surgical procedure for anterior shoulder instability. A larger patient cohort with longer follow-up is needed to confirm these findings.

Enteroatmospheric fistula repair in Ehlers-Danlos syndrome type IV: a novel management technique using ABRA device.

A 35-year-old man with Ehlers-Danlos syndrome type IV (EDS IV) underwent surgical repair of an enteroatmospheric fistula. Despite the substantially increased operative risk, repair was undertaken in view of his poor quality of life and severe nutritional deficits. Dense adhesions and extremely fragile bowel and vasculature characteristic of EDS IV were encountered intraoperatively. Multiple traction enterotomies and faecal matter leaking from suture holes necessitated leaving the abdomen open for a prolonged period. An Abdominal Reapproximation Anchor device was applied to prevent lateral retraction of the abdominal wall during this time. At relook on day 6, no leak was found, and the abdomen was closed. Two years postoperatively, the patient has an intact abdominal wall, with a vastly improved quality of life. This case illustrates the challenges of operating on patients with EDS IV, and presents a novel technique in managing fistulas in these patients.