scholarly journals SAT0515 COMPLEX HYPERMOBILITY EHLERS-DANLOS SYNDROME (HEDS): MAPPING THE PATIENT’S JOURNEY OVER 40 MONTHS IN A TERTIARY REFERRAL CENTRE

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1213.1-1214
Author(s):  
S. Dar ◽  
V. Tidman ◽  
P. Mehta ◽  
H. Kazkaz
Keyword(s):  
Pain Management ◽  
Young Patients ◽  
Severe Disabilities ◽  
Medical Genetics ◽  
Team Approach ◽  
College Hospital ◽  
Ehlers Danlos Syndrome ◽  
Qualitative Interview Study ◽  
Danlos Syndrome

Background:Ehlers-Danlos Syndromes are heritable connective tissue disorders.They are multisystemic and patients can present with several symptoms such as joint pain and instability, visceral and autonomic dysfunction, as well as significant psychosocial sequela. Managing this cohort of young patients is usually challenging as many patients present late due to delayed diagnosis, often with several complications, problems with mobility and opioid use. Furthermore, there is often a prolonged lack of coordinated healthcare and access to social care services. A recent parliamentary debate in the U.K. highlighted that hEDS services are excluded from specialist Rheumatology commissioning services. In order to ascertain the relevance and utility of specialist services in this population, we conducted this study.Objectives:The objective of this study was to map the patient experience following a referral to the specialist clinic in order to assess the need for an integrated, multidisciplinary approach to treating patients with hypermobility EDS.Methods:We retrospectively reviewed the records of 50 patients with the diagnosis of hypermobility EDS who were seen in a specialist hypermobility clinic at University College Hospital UCLH between January 2016 and March 2016. Relevant data was collected regarding their medical care in our hospital up to October 2019.Results:The median age was 37 (range 21-59). We had 10 males and 40 females. The diagnosis of hypermobility EDS was based on the 1997 criteria as these patients were seen prior to the 2017 classification. Overall, the study yielded 6 key themes: 1. All patients experienced chronic pain, with 36% reporting use of opioids for pain management. 2. Patients were referred to multiple medical specialities within the same hospital trust, (22% patients were referred to ≥5 specialities). 3. Patients required a high number of follow up appointments (28% of patients required ≥20 follow-up visits). 4. Failed discharges were common; patients were often referred back to the Rheumatology Clinic despite being discharged to primary care. 5. Patients had a significant number of comorbidities, reflected by polypharmacy. (36% of patients were prescribed ≥5 medications). 6. Disability was high (20% of patients reported severe mobility problems).Conclusion:This study shows that patients with hEDS referred to UCLH have significant levels of disability, opioids use and polypharmacy especially for a relatively young population of patients. They need a complex interdisciplinary approach in a timely manner. In order to minimise delays and allow earlier diagnosis and intervention, we have recently adopted a multidisciplinary team approach, including pain specialists, rheumatologists, psychologists, physiotherapists, nurse specialists, urogynaecologists and neurogastroenterologists. This allows more coordinated and efficient care and incorporates an EDS-specific pain management programme. Specialised services for complex hEDS cases should be established and adequately resourced. Moreover, it would be cost effective to commission a patient-centred “one-stop-shop” service, where patients, who often travel from long distances with severe disabilities, can be seen by multiple specialities in a single visit.References:[1]Bennett, S., Walsh, N., Moss, T. and Palmer, S. (2019). Understanding the psychosocial impact of joint hypermobility syndrome and Ehlers–Danlos syndrome hypermobility type: a qualitative interview study. Disability and Rehabilitation, pp.1-10. Healthwatch Calderdale. (2019). Hypermobility Syndromes Project - Healthwatch Calderdale.[2]Tinkle, B., Castori, M., Berglund, B., Cohen, H., Grahame, R., Kazkaz, H. and Levy, H. (2017). Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(1), pp.48-69.Disclosure of Interests:None declared

THE CLASSIC TYPE OF EHLERS–DANLOS SYNDROME: DIFFERENTIAL DIAGNOSIS AND PECULIARITIES OF PATIENT MANAGEMENT

2021 ◽  
Vol 100 (5) ◽  
pp. 62-69
Author(s):  
А.N. Semyachkina ◽  
◽  
E.А. Nikolaeva ◽  
А.R. Zabrodina ◽  
L.P. Melikyan ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Adult Population ◽  
Gene Mutations ◽  
Hereditary Disease ◽  
Ehlers Danlos Syndrome ◽  
Severe Pathology ◽  
Type V ◽  
Danlos Syndrome

The Classic Ehlers–Danlos syndrome (cEDS) is an autosomal dominant hereditary disease caused by type V collagen defect. The incidence of pathology is estimated at 1:20,000 of the population. The results of a long-term (15 years) follow-up of a group of patients (n=18) with cEDS, including 5 boys and 13 girls aged from 3 to 18 years, are presented. The diagnosis was made based on the presence of 2 large and 5 small international diagnostic criteria in all patients. The progreduated character of the disease is shown, which is most obvious in the dynamics of the state of the musculoskeletal system. Genetic verification of the diagnosis was performed in 6 patients; 5 probands had mutations in the COL5A1 gene, and one in the COL5A2 gene. Mutations already registered in the database were detected only in 2 children. Previously unknown substitutions were found in 4 patients. The article presents the issues of differential diagnosis of this severe pathology and touches upon the issue of continuity between medical pediatric specialists and doctors of various specialties working with the adult population.

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

2021 ◽  
Vol 12 (6) ◽  
pp. 773-777
Author(s):  
Mohamed F. Elsisy ◽  
Alberto Pochettino ◽  
Joseph A. Dearani ◽  
Thomas C. Bower ◽  
Robert D. McBane ◽  
...  
Keyword(s):  
Surgical Outcomes ◽  
Time Frame ◽  
Ehlers Danlos Syndrome ◽  
Vital Status ◽  
Type Iv ◽  
Vascular Type ◽  
Baseline Characteristics ◽  
Danlos Syndrome ◽  
Adult Cardiac Surgery

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.

scholarly journals Ehlers-Danlos Syndrome Type VIII: A Rare Cause of Leg Ulcers in Young Patients

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Sophie Ronceray ◽  
Juliette Miquel ◽  
Antoine Lucas ◽  
Gérald E. Piérard ◽  
Trinh Hermanns-Lê ◽  
...  
Keyword(s):  
Young Patients ◽  
Leg Ulcer ◽  
Permanent Teeth ◽  
Syndrome Type ◽  
Leg Ulcers ◽  
Ehlers Danlos Syndrome ◽  
Type Viii ◽  
Thin Skin ◽  
Dominant Disease ◽  
Danlos Syndrome

Ehlers-Danlos syndrome type VIII (EDS-VIII) is a very rare autosomal dominant disease characterized by early-onset periodontitis associated with features of Ehlers-Danlos syndrome. We report a 32-year-old man whose chronic leg ulcer led to the diagnosis of EDS-VIII. He had severe periodontitis with complete loss of permanent teeth and skin fragility with thin skin, atrophic scars, and brownish atrophic pretibial plaques. Leg ulcer is not a prominent feature of EDS-VIII. We suggest adding EDS-VIII to the list of rare diseases accounting for chronic leg ulcers, if this case report prompts others to report leg ulcers associated with EDS-VIII.

scholarly journals Aortic Root Dilatation in Children and Adolescents At Al-Hawary General Hospital, & National Benghazi Cardiac Center -Libya

2021 ◽  
Vol 36 (4) ◽  
pp. 300-307
Author(s):  
Rasmia H. Feituri ◽  
Hanan El Megasbi ◽  
Mariam M. El maadani ◽  
Amal Khazm
Keyword(s):  
Aortic Valve ◽  
Children And Adolescents ◽  
Marfan Syndrome ◽  
Aortic Root ◽  
Ehlers Danlos Syndrome ◽  
Aortic Root Dilatation ◽  
Adrenergic Blockers ◽  
Danlos Syndrome ◽  
Cardiac Center

Isolated dilatation of the aortic root and/or ascending aorta is a rare but well-known cardiovascular manifestation, can be caused by a variety of congenital or acquired conditions; that lead to the weakening of the aortic wall. The study aimed to detect the cause and the rate of the aortic root dilatation in children and adolescents, and to assess the effect of the Beta-adrenergic blockers in preventing further dilatation in the aortic root. A case series study was perform with five years of follow-up at Al-Hawary General Hospital, National Benghazi Cardiac Center. A total of 91 patients were seen with ascending aortic dilatation and/or root dilatation during the period from 6/2016 - 6/2021 included in the study diagnosed by clinical examination, chest x-ray, and echocardiogram. The diagnosis in 34/91(37%) was Tetralogy of fallout (TOF) and truncus arteriosus, 57/91 (63%) was dilated aortic root, 25/57 (44%) bicuspid aortic valve (BAV), 22/57 (38.5%) Marfan syndrome, 4/57(7%) Noonan syndrome, 2/57(3.5%) Turner syndrome, 3/57(5%) Ehlers-Danlos syndrome, 1/57(2%) idiopathic. Follow-up results of three months – five years: 57/91 patients with aortic root dilatation were followed up, none of the Marfan syndrome and Ehlers-Danlos syndrome patients who received beta-blockers had shown progression in the dilatation of the aortic root, and all patients who had bicuspid aortic valve did not show any progression in the dilatation without using medication. Conclusions: Dilated aortic root is a common finding in Marfan syndrome, bicuspid aortic root, and Ehlers-Danlos syndrome, and its progress could be decreased by using beta-adrenergic blockers in rapidly progressing dilation.

scholarly journals Non-syndrome patient with bilateral supernumerary teeth: Case report and 9-year follow-up

2013 ◽  
Vol 07 (01) ◽  
pp. 123-126 ◽  
Author(s):  
Ozlem Marti Akgun ◽  
Fidan Sabuncuoglu ◽  
Ayberk Altug ◽  
Ceyhan Altun
Keyword(s):  
Unusual Case ◽  
Incontinentia Pigmenti ◽  
Syndrome Patient ◽  
Supernumerary Teeth ◽  
Ehlers Danlos Syndrome ◽  
Gardner Syndrome ◽  
Ellis Van Creveld Syndrome ◽  
Danlos Syndrome ◽  
Regular Number

ABSTRACTThe presence of supernumerary teeth, also known as hyperdontia, is the condition of having teeth in addition to the regular number of teeth. The occurrence of multiple supernumerary teeth is often found in association with syndromes such as Gardner syndrome, Anderson-Fabry disease, Ellis-van Creveld syndrome, Ehlers-Danlos syndrome, incontinentia pigmenti, and Tricho-rhino-phalangeal syndrome. Only a few examples of nonsyndromic multiple supernumerary teeth have been reported in literature. In this report, we present the unusual case and 9-year follow up of a non-syndrome female patient with bilateral supernumerary teeth that occurred with an interval of several years. (Eur J Dent 2013;7:123-126)

Use of Tendon Allograft for Recurrent Extensor Carpi Ulnaris Instability in Ehlers–Danlos Syndrome: A Case Report

2021 ◽  
Author(s):  
Brian M. Christie ◽  
Paige M. Fox
Keyword(s):  
Medical Literature ◽  
Surgical Repair ◽  
Autologous Reconstruction ◽  
Gracilis Tendon ◽  
Autologous Tissue ◽  
Ehlers Danlos Syndrome ◽  
Extensor Carpi Ulnaris ◽  
Tendon Allograft ◽  
Danlos Syndrome

Abstract Background Subluxation of the extensor carpi ulnaris (ECU) tendon can be a challenging problem to the surgeon, with no options described for failure following autologous reconstruction. It is our intention to provide guidance on technique by describing our experience in a 20-year-old male with Ehlers–Danlos syndrome. Case Description The patient presented with pain and snapping of the ECU tendon, and failed both immobilization and ECU reconstruction with autologous extensor retinaculum. A gracilis tendon allograft was used to reconstruct the ECU sheath, in addition to ulnar groove deepening. At 1-year follow-up, the patient had no pain and the ECU was stable without recurrent subluxation. Literature Review To the authors' knowledge, the use of tendon allograft for stabilization of recurrent ECU subluxation following surgical repair or reconstruction has not been previously described in the medical literature. Clinical Relevance Utilization of tendon allograft is a viable technique to stabilize the ECU tendon while minimizing the risk in relying on compromised autologous tissue. This report represents the first account of successful reconstruction following failed autologous reconstruction.

scholarly journals Treatment of Pediatric Chronic Pain with Tramadol Hydrochloride: Siblings with Ehlers-Danlos Syndrome - Hypermobility Type

2004 ◽  
Vol 9 (4) ◽  
pp. 209-211 ◽  
Author(s):  
Stephen C Brown ◽  
Jennifer Stinson
Keyword(s):  
Physical Activity ◽  
Chronic Pain ◽  
Pain Intensity ◽  
Pediatric Patients ◽  
Previous Treatment ◽  
Tramadol Hydrochloride ◽  
Ehlers Danlos Syndrome ◽  
Pediatric Chronic Pain ◽  
Danlos Syndrome

OBJECTIVE:To evaluate the effectiveness of tramadol hydrochloride for the treatment of chronic pain refractory to previous treatment in two pediatric patients.METHODS:Tramadol hydrochloride was administered (50 mg/day to 150 mg/day) to two siblings with Ehlers-Danlos syndrome -- Hypermobility type refractory to previous pharmacological treatments, and changes in pain intensity and physical activity were assessed.RESULTS:Pain intensity decreased and physical activity improved within days of starting therapy. Positive results have been maintained for 30 months.CONCUSIONS:Tramadol hydrochloride was a safe and effective treatment for relieving chronic pain in two pediatric patients suffering from the hypermobility type of Ehlers-Danlos syndrome. No morbidity or side effects were noted during the 30-month follow-up.

scholarly journals Surgical-orthodontic treatment in patients with Ehlers–Danlos syndrome: a report of two familial cases

2020 ◽  
Vol 26 (1) ◽  
pp. 5
Author(s):  
Hippolyte Chapuis ◽  
Arnaud Peyrolade ◽  
Ahmed Féki ◽  
François Clauss ◽  
Fabien Bornert
Keyword(s):  
Orthodontic Treatment ◽  
Clinical Symptoms ◽  
Genetic Mutation ◽  
Therapeutic Approaches ◽  
Connective Tissue Disorders ◽  
Ehlers Danlos Syndrome ◽  
Familial Form ◽  
Danlos Syndrome

Introduction: Ehlers–Danlos syndromes (EDS) are a group of rare inherited connective tissue disorders that affect the synthesis and structure of collagen in a ubiquitous manner. The clinical presentation can vary according to the associated genetic mutation. The 2017 international classification of EDS describes 13 types of EDS. Observation: The first part of this paper describes the surgical-orthodontic treatment for two sisters affected by a common and familial form of EDS, with a follow-up period of 8 years. The main symptoms were agenesis, impacted teeth, and delayed eruptions. Discussion: The second part proposes a review of oro-dental manifestations and discusses therapeutic approaches for patients with EDS. Conclusion: EDS can affect the oro-dental region with numerous consequences. Recognition of clinical symptoms and radiological signs is essential to provide appropriate dental care. Moreover, complete clinical and radiological assessment can allow early diagnosis of EDS.

scholarly journals Ehlers-Danlos syndrome with damage to the digestive tract, heart, kidneys and other organs

2021 ◽  
Vol 1 (1) ◽  
pp. 183-190
Author(s):  
S. N. Borzakova ◽  
L. A. Kharitonova ◽  
I. M. Osmanov ◽  
I. D. Maikova
Keyword(s):  
Connective Tissue ◽  
Methodological Approach ◽  
First Year ◽  
Many Body ◽  
Ehlers Danlos Syndrome ◽  
Connective Tissue Dysplasia ◽  
Training Courses ◽  
First Year Of Life ◽  
Danlos Syndrome

Relevance: Hereditary connective tissue disorders (HCTDs) are a heterogeneous group of diseases caused by mutations in the genes of extracellular matrix proteins or proteins involved in connective tissue morphogenesis. Mutations of these genes lead to the development of many HCTDs. The best known monogenic variants of HCTDs are Marfan syndrome, Ehlers-Danlos syndrome, and osteogenesis imperfecta. Inheritance is mainly autosomal, dominant or recessive. Although the first signs of HCTDs develop as early as the first year of life, it takes several years for pediatricians and specialty physicians to make the diagnosis of connective tissue dysplasia because of a lack of clear methodological approach. The disease is multi-morbid and may manifest under gastroenterological, cardiological, nephrological, or respiratory masks.Aim: to present a clinical case of Ehlers-Danlos syndrome with multiorgan digestive, heart, kidneys, and other lesions.Material and methods: the case history is presented of a 15‑year-old boy with Ehlers-Danlos syndrome, classic type.Discussion: defective collagen increased the connective tissue extensibility affecting function of many body organs and systems, including gastrointestinal, biliary, and urinary tracts, musculoskeletal and cardiovascular systems. Small developmental anomalies led to functional (motor) disorders, which contributed to the chronic organic pathology (erosive reflux esophagitis, gastroduodenitis, cholelithiasis, proctosigmoiditis, chronic pyelonephritis, or chronic sinusitis). Given the multi-organ character of the lesions, the progredient course of bone and joint changes, and early development of disability, the prognosis for the health of this child is serious. A multidisciplinary approach is important to plan the follow-up (with orthopedist, gastroenterologist, cardiologist, ophthalmologist, and nephrologist). Timely rehabilitation, therapeutic physical training courses, massage, metabolic, and anti-relapse treatment are necessary to slow down the progredient course of the hereditary connective tissue disease.

scholarly journals The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers–Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases

Genes ◽  
2020 ◽  
Vol 11 (4) ◽  
pp. 420 ◽  
Author(s):  
Camille Kumps ◽  
Belinda Campos-Xavier ◽  
Yvonne Hilhorst-Hofstee ◽  
Carlo Marcelis ◽  
Marius Kraenzlin ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Short Stature ◽  
Connective Tissue Disorder ◽  
Zinc Transporter ◽  
Facial Features ◽  
Transporter Gene ◽  
Ehlers Danlos Syndrome ◽  
Type 3 ◽  
Danlos Syndrome

Recessive loss-of-function variants in SLC39A13, a putative zinc transporter gene, were first associated with a connective tissue disorder that is now called “Ehlers–Danlos syndrome, spondylodysplastic form type 3” (SCD-EDS, OMIM 612350) in 2008. Nine individuals have been described. We describe here four additional affected individuals from three consanguineous families and the follow up of two of the original cases. In our series, cardinal findings included thin and finely wrinkled skin of the hands and feet, characteristic facial features with downslanting palpebral fissures, mild hypertelorism, prominent eyes with a paucity of periorbital fat, blueish sclerae, microdontia, or oligodontia, and—in contrast to most types of Ehlers–Danlos syndrome—significant short stature of childhood onset. Mild radiographic changes were observed, among which platyspondyly is a useful diagnostic feature. Two of our patients developed severe keratoconus, and two suffered from cerebrovascular accidents in their twenties, suggesting that there may be a vascular component to this condition. All patients tested had a significantly reduced ratio of the two collagen-derived crosslink derivates, pyridinoline-to-deoxypyridinoline, in urine, suggesting that this simple test is diagnostically useful. Additionally, analysis of the facial features of affected individuals by DeepGestalt technology confirmed their specificity and may be sufficient to suggest the diagnosis directly. Given that the clinical presentation in childhood consists mainly of short stature and characteristic facial features, the differential diagnosis is not necessarily that of a connective tissue disorder and therefore, we propose that SLC39A13 is included in gene panels designed to address dysmorphism and short stature. This approach may result in more efficient diagnosis.

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