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 New principles of diagnosis and classification of the Ehlers-Danlos syndrome

2018 ◽  
Vol 9 (1) ◽  
pp. 118-125
Author(s):  
Vadim G. Arsentev ◽  
Tamara I. Kadurina ◽  
Larisa N. Abbakumova
Keyword(s):  
Connective Tissue ◽  
Diagnostic Criteria ◽  
Clinical Picture ◽  
Clinical Signs ◽  
Connective Tissue Disorders ◽  
Ehlers Danlos Syndrome ◽  
Dominant Type ◽  
Monogenic Diseases ◽  
Danlos Syndrome

Ehlers-Danlos syndrome (EDS) is a heterogeneous group of monogenic diseases caused by a violation of collagen metabolism, the structure and function of myomatrix and the synthesis of proteoglycans. This pathology is characteri zed by hyperelasticity of the skin, subcutaneous globules, overextension of the joints, tissue vulnerability and hemorrhagic syndrome. EDS is one of the seven hereditary connective tissue disorders for which international diagnostic criteria are met. More than 30 years ago, the so-called Berlin nosology of hereditary connective tissue disorders was first compiled and approved (1986). For a long time, doctors used the “Villefranche Nosology” classification of EDS, adopted in 1998 and divided the disease into 6 types. The new criteria were published by the International Committee of Experts in 2017. In the clinical classification of EDS, 13 types with different inheritance, clinical features and biochemical defects are described. In most cases, it is inherited by an autosomal dominant type. True prevalence is unknown due to the complexity of verification and a large number of light forms, the frequency of diagnosed cases is 1 : 5000 births, severe forms are rare (1 : 100 000). Diagnosis of this syndromeis also based on the diagnostic criteria of the international classification. The lecture presents new data on classification diagnostic criteria of EDS, polymorphism of the clinical picture, genetic heterogeneity, the main principles of treatment of the disease. The new classification criteria take into account, in the main, the features of the clinical picture, they did not simplify the diagnosis, but they increased the specificity and increased the significance of the clinical and anamnestic features. The scope of the examination is determined by the presence of leading clinical signs. The genealogical examination and molecular genetic methods of diagnostics are of great importance.

scholarly journals Genetic testing for vascular Ehlers-Danlos syndrome and other variants with fragility of the middle arteries

2018 ◽  
Vol 2 (s1) ◽  
pp. 42-44
Author(s):  
Yeltay Rakhmanov ◽  
Paolo Enrico Maltese ◽  
Alice Bruson ◽  
Marco Castori ◽  
Tommaso Beccari ◽  
...  
Keyword(s):  
Extracellular Matrix ◽  
Clinical Trials ◽  
Vascular Involvement ◽  
Molecular Testing ◽  
Connective Tissue Disorders ◽  
Ehlers Danlos Syndrome ◽  
Recurrent Mutations ◽  
Gene Test ◽  
Danlos Syndrome

Abstract Ehlers-Danlos syndrome (EDS) is an umbrella term for various inherited connective tissue disorders associated with mutations in genes involved in extracellular matrix formation. “The 2017 International Classification of Ehlers-Danlos Syndromes and related disorders” identifies 13 clinical types with mutations in 19 distinct genes. The present module focuses on forms with major vascular involvement: vascular EDS (vEDS) caused by heterozygous mutations in COL3A1, “vascular-like” EDS (vlEDS) caused by recurrent mutations in COL1A1, classical EDS with vascular fragility associated with heterozygous mutations in COL5A1, and kyphoscoliotic EDS associated with recessive variations in PLOD1 and FKBP14. The overall prevalence of EDS is estimated between 1/10,000 and 1/25,000 and vEDS accounts for about 5 to 10% of all EDS cases. This Utility Gene Test was prepared on the basis of an analysis of the literature and existing diagnostic protocols. Molecular testing is useful for diagnosis confirmation, as well as differential diagnosis, appropriate genetic counselling and access to clinical trials.

Psychiatric Manifestations of Ehlers-Danlos Syndrome in Adolescents: A Case Report and Literature Review

2020 ◽  
Vol 16 ◽  
Author(s):  
Daisy Vyas Shirk ◽  
Sarah D. Williams
Keyword(s):  
Chronic Pain ◽  
Literature Review ◽  
Literature Search ◽  
Web Search ◽  
Psychiatric Symptoms ◽  
Connective Tissue Disorders ◽  
Ehlers Danlos Syndrome ◽  
Symptoms Of Depression ◽  
Psychiatric Manifestations ◽  
Danlos Syndrome

Background: Ehlers-Danlos Syndromes (EDS) comprise a group of heterogeneous hereditary connective tissue disorders [1, 2]. Psychiatric disorders such as depression, anxiety, panic disorder, agoraphobia, schizophrenia, neurodevelopmental disorders, personality disorder, eating disorders, substance misuse and interpersonal issues have been reported in the literature to be associated with EDS [1-3]. Objectives: The case of a 15-year -old male who was hospitalized after a suicide attempt by gunshot was discovered to have symptoms suggestive of EDS is presented in this paper along with the results of a literature search of psychiatric manifestations of EDS in children and adolescents. Methods: Literature review was conducted on the UpToDate website on March 11, 2020 to review symptoms of EhlersDanlos Syndrome for the purpose of preliminary diagnosis of this patient. Additional literature search was conducted on PubMed on 4/2/20 at 12:10 P.M. and on 4/9/20 at 10:51 P.M. and on the search engine Google on 4/2/20 at 12:25 P.M. On May 11, 2020 at 2 P.M., another web search was conducted with review of 6 different websites pertaining to EhlersDanlos Syndrome. Results: A systematic review of psychiatric manifestations of Ehlers-Danlos Syndromes revealed a strong incidence of psychiatric symptoms. Conclusion: Our patient’s psychiatric symptoms of depression, suicidal ideations, anxiety and social and educational struggles may have been at least partially due to chronic pain- abdominal, headache and musculoskeletal, and social ostracization associated with Ehlers-Danlos Syndrome. Education regarding this illness helped our patient’s recovery as he came to understand why he was so “odd” and the cause of his multisystemic chronic pain.

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

scholarly journals Pain Symptomatology and Management in Pediatric Ehlers–Danlos Syndrome: A Review

Children ◽  
2020 ◽  
Vol 7 (9) ◽  
pp. 146
Author(s):  
Estée C. H. Feldman ◽  
Daniel P. Hivick ◽  
P. Maxwell Slepian ◽  
Susan T. Tran ◽  
Pradeep Chopra ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Psychological Interventions ◽  
Pediatric Pain ◽  
Connective Tissue Disorders ◽  
Ehlers Danlos Syndrome ◽  
Major Criterion ◽  
Pain Characteristics ◽  
The Relationship ◽  
Danlos Syndrome

Ehlers–Danlos syndromes (EDS) are a group of connective tissue disorders that manifest with hyperextensibility of joints and skin, and general tissue fragility. While not a major criterion for clinical diagnosis, pain is a frequently endorsed symptom across subtypes of EDS. As such, the present review aims to summarize research to date on pain characteristics and management, and the relationship between such pain symptomatology and quality of life in pediatric EDS. Characteristics of pain, including theorized etiology, relative intensity and extent of pain are described, as well as descriptions of frequently endorsed pain sites (musculoskeletal, and non-musculoskeletal). Interventions related to the management of musculoskeletal (e.g., pharmaceutical intervention, physical therapy) and non-musculoskeletal pain (e.g., pharmaceutical and psychological interventions) are discussed, highlighting the need for additional research related to pediatric pain management in the context of hypermobility syndromes. In addition, the relationship between pain in pediatric EDS and quality of life is described. Finally, limitations of literature to date are described and recommendations for future lines of research are outlined.

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.

scholarly journals Hereditary Connective Tissue Diseases in Young Adult Stroke: A Comprehensive Synthesis

2011 ◽  
Vol 2011 ◽  
pp. 1-18 ◽  
Author(s):  
Olivier M. Vanakker ◽  
Dimitri Hemelsoet ◽  
Anne De Paepe
Keyword(s):  
Connective Tissue ◽  
Metabolic Disorders ◽  
Type Iv Collagen ◽  
Connective Tissue Diseases ◽  
Haemorrhagic Stroke ◽  
Monogenic Disease ◽  
Connective Tissue Disorders ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Danlos Syndrome

Though the genetic background of ischaemic and haemorrhagic stroke is often polygenetic or multifactorial, it can in some cases result from a monogenic disease, particularly in young adults. Besides arteriopathies and metabolic disorders, several connective tissue diseases can present with stroke. While some of these diseases have been recognized for decades as causes of stroke, such as the vascular Ehlers-Danlos syndrome, others only recently came to attention as being involved in stroke pathogenesis, such as those related to Type IV collagen. This paper discusses each of these connective tissue disorders and their relation with stroke briefly, emphasizing the main clinical features which can lead to their diagnosis.

scholarly journals Hypodontia of mandibular incisors: considerations on the orthodontic treatment

2018 ◽  
Vol 23 (4) ◽  
pp. 79-87
Author(s):  
Renato Barcellos Rédua ◽  
Paulo César Barbosa Rédua
Keyword(s):  
Case Report ◽  
Treatment Option ◽  
Orthodontic Treatment ◽  
Composite Resin ◽  
Therapeutic Approaches ◽  
Missing Teeth ◽  
Craniofacial Malformation ◽  
Space Closure ◽  
Composite Resin Restorations

ABSTRACT Hypodontia is the most prevalent craniofacial malformation in mankind. It may present a wide variety of manifestations and, depending on the number and location of missing teeth, it may affect the esthetics, mastication, speech and occlusal balance. This paper discusses the therapeutic approaches to solve this condition, describing a case report with hypodontia of one mandibular lateral incisor, which treatment option included space closure at the region of hypodontia associated with composite resin restorations in the mandibular central incisors. The three-year follow-up after treatment revealed occlusal stability, adequate intercuspation in Class I relationship and excellent micro and macroesthetics.

scholarly journals Ehlers–Danlos syndrome: how to diagnose and when to perform genetic tests

2014 ◽  
Vol 100 (1) ◽  
pp. 57-61 ◽  
Author(s):  
Glenda Sobey
Keyword(s):  
Genetic Basis ◽  
Correct Diagnosis ◽  
Clinical Signs ◽  
Accurate Diagnosis ◽  
Connective Tissue Disorders ◽  
Internal Organs ◽  
Ehlers Danlos Syndrome ◽  
Starting Point ◽  
Life Threatening ◽  
Danlos Syndrome

The term Ehlers–Danlos syndrome (EDS) encompasses a group of inherited connective tissue disorders. The manifestations of EDS can be seen in skin, joints, blood vessels and internal organs and vary from mild to severe and life threatening. Each subtype is a separate and different condition. The genetic basis of many subtypes has now been elucidated, confirming heterogeneity. An awareness of the different conditions within this group is the starting point towards accurate diagnosis. Accurate elicitation of history and clinical signs is vital in selecting the correct confirmatory investigation. Skin biopsy with electron microscopy can be helpful in the decision process of whether and when to perform genetic testing. Correct diagnosis within the EDSs allows targeted management, family screening and prenatal diagnosis.

scholarly journals Geno-phenotypic characteristics of Ehlers–Danlos syndrome: difficulties of disease type identification and approaches to pathogenetic treatment

2021 ◽  
Vol 66 (1) ◽  
pp. 22-30
Author(s):  
E. A. Nikolaeva ◽  
A. N. Semyachkina
Keyword(s):  
Connective Tissue ◽  
Clinical Symptoms ◽  
Molecular Genetic ◽  
Symptomatic Treatment ◽  
Pathological Process ◽  
Social Adaptation ◽  
Molecular Defect ◽  
Ehlers Danlos Syndrome ◽  
Pathogenetic Therapy ◽  
Danlos Syndrome

Veltischev Researchand Clinical Institutefor Pediatricsofthe Pirogov Russian National Research Medical University, Moscow, Russia The article presents modern data on the most common monogenic connective tissue disease – Ehlers–Danlos syndrome. The authors describe two previous classifications of the syndrome: Berlin (1988) classification, which distinguishes 11 types of the disease, and Beyton (1998) classification, which includes 6 types of the syndrome and takes into account the results of molecular genetic studies. Particular attention is paid to a new classification, proposed by the International Consortium in 2017. This classification is based on the clinical and molecular genetic data and unites 13 types of Ehlers–Danlos syndrome, divided in 7 groups (A–G), depending on the main molecular defect. This defect determines the violation of various collagen structures (primary, spatial, cross-linking) and others constituents of the connective tissue (myomatrix, glycosaminoglycans, complement component, etc.). The classification provides general clinical symptoms for all types of the disease and comprehensive information on the specific signs of each of the 13 types of the syndrome.The authors discuss approaches to the pathogenetic therapy of the syndrome, the possibilities of symptomatic treatment, including both medications of different spectrum of action, and physiotherapeutic measures, exercise therapy. The complex of the listed therapeutic measures is aimed at stabilizing the main pathological process, preventing complications, improving the patient’s quality of life and social adaptation. The authors emphasize that correct patient management, targeted medical supervision and medical genetic counseling requires molecular genetic verification of the diagnosis.

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