Materiały źródłowe

• #1 Ehlers-Danlos Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK549814/

  The prevalence of Ehlers-Danlos syndrome is estimated to be between 1 in 5000 and 1 in 100,000, based on the EDS subtype, but this could be an underestimation. […] The accurate prevalence of the different EDS subtypes is still not known. In our 2019 review of the literature, epidemiologic data based on the new 2017 classification system is minimal as most of the data is based on the 1997 nosology, in which genetic etiology was not yet a mainstay for diagnosis. What can be delineated is that hypermobility type EDS is the most common subtype, with an incidence between 1 in 10000 and 1 in 15000. […] EDS classical type is estimated to affect 1 per 10000 to 1 per 20000. Aside from the common subtypes, most others are exceedingly rare, with specific subtypes like EDS kyphoscoliotic type identified in about 60 total patients and EDS dysfibronectinemic type identified in only one single family. However, it is important to note that there is likely underestimation of the overall incidence of EDS as the more mild presentations with only minimal joint or skin involvement may not have clinically significant disease and, therefore, may not seek medical care. If they do, subtle signs and symptoms can be difficult to diagnose, and genetic testing is not indicated or pursued.

• #2 Are the Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders Rare or Common? – The Ehlers Danlos Society

  https://www.ehlers-danlos.com/prevalence/

  The overall prevalence of Ehlers-Danlos syndromes (EDS) is cited as 1 in 5000 based on a publication by Pyeritz (2000), and further supported by population data from Denmark (Kulas Sborg et al., 2017), and data extrapolated from a Swedish study (Cederlf et al., 2016). […] In a study of healthcare records in the Welsh population, Demmler et al. (2019), found an EDS prevalence of approximately 1 in 3100. […] However, as more is learned about the most prevalent type of EDS, hypermobile EDS (hEDS), it is now thought that figures for the prevalence of hEDS are an underestimate. […] Aside from hEDS, the other types of EDS are rarer than 1 in 5000. Classical EDS has a prevalence of 1 in 20,00040,000. Vascular EDS has a prevalence of 1 in 100,000200,000. Other types of EDS affect less than 1 in a million or are ultra-rare in that they affect small numbers of individuals and families (Malfait et al., 2017).

• #3 Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case–control comparison | BMJ Open

  https://bmjopen.bmj.com/content/9/11/e031365

  Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and casecontrol comparison […] To describe the epidemiology of diagnosed hypermobility spectrum disorder (HSD) and Ehlers-Danlos syndromes (EDS) using linked electronic medical records. […] We found 6021 individuals (men: 30%, women: 70%) with a diagnostic code of either EDS or JHS. This gives a diagnosed point prevalence of 194.2 per 100000 in 2016/2017 or roughly 10 cases in a practice of 5000 patients. […] EDS and JHS (since March 2017 classified as EDS or HSD) have historically been considered rare diseases only affecting the musculoskeletal system and soft tissues. These data demonstrate that both these assertions should be reconsidered. […] This work examined the epidemiology of EDS and JHS and found a combined diagnosed prevalence of 194.2 per 100000 (0.19%) or 1 in 500 people in Wales; hEDS or HSD within the 2017 classification. […] We conclude that EDS/HSD are not rare conditions and are associated with significantly increased odds of additional diagnoses and use of medications across many body systems.

• #4 Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case–control comparison | BMJ Open

  https://bmjopen.bmj.com/content/9/11/e031365.abstract

  Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and casecontrol comparison […] To describe the epidemiology of diagnosed hypermobility spectrum disorder (HSD) and Ehlers-Danlos syndromes (EDS) using linked electronic medical records. […] We found 6021 individuals (men: 30%, women: 70%) with a diagnostic code of either EDS or JHS. This gives a diagnosed point prevalence of 194.2 per 100000 in 2016/2017 or roughly 10 cases in a practice of 5000 patients. […] EDS and JHS (since March 2017 classified as EDS or HSD) have historically been considered rare diseases only affecting the musculoskeletal system and soft tissues. These data demonstrate that both these assertions should be reconsidered.

• #5 Hypermobile Ehlers-Danlos Syndrome

  https://fpnotebook.com/Rheum/Peds/HyprmblEhlrsDnlsSyndrm.htm

  Represents 80-90% of Ehlers-Danlos Syndrome cases.

• #6 What is EDS? – The Ehlers Danlos Society

  https://www.ehlers-danlos.com/what-is-eds/

  Each type of EDS has a different prevalence in the population. Hypermobile EDS (hEDS) is the most common type of EDS by far. hEDS accounts for about 90% of EDS cases and is thought to affect at least 1 in 3,100-5,000 people. hEDS is currently classified as a rare disorder, but the true prevalence is not known and may be underestimated. Classical EDS (cEDS) and vascular EDS (vEDS) are much rarer than hEDS. cEDS affects roughly 1 in 20,000-40,000 people. vEDS affects about 1 in 100,000-200,000 people. All other types of EDS are classified as ultra-rare, affecting less than 1 in 1 million people. Several types of EDS have only been reported in a few affected families. […] Each type of EDS is caused by variants in specific genes that provide the instructions for making collagens and related proteins. Some types of EDS are associated with multiple different genes. The genetic cause(s) of hEDS have not been identified.

• #7 Genetics of Ehlers-Danlos Syndrome: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/943567-overview

  EDS seems to have an overall prevalence of at least 1 in 5000 persons. The hypermobility and classical forms of EDS are the most common, with the former having a prevalence of perhaps 1 in 5,000 to 1 in 20,000 people, and the classical type being found in perhaps 1 in 20,000 to 1 in 40,000 individuals. […] Reduced life expectancy is not generally a feature of Ehlers-Danlos syndrome (EDS), with the exception of vascular-type EDS (type IV). Median life expectancy for patients with vascular-type EDS is 50 years because medium-sized arteries, and the gastrointestinal tract, can spontaneously rupture. Uterine rupture during pregnancy has also been reported. […] Morbidity in EDS is related to the primary pathophysiology and includes dislocations, pain, or both from chronic joint laxity and instability. Aberrant wound healing and scarring due to abnormal tensile strength of the skin also happens.

• #8 Prevalence of EDS | Ehlers-Danlos NewsEnvelope icon

  https://ehlersdanlosnews.com/prevalence-of-eds/

  Ehlers-Danlos syndrome (EDS) refers to a group of related genetic diseases that affect connective tissues. Its symptoms vary depending on the type and severity of the disease, ranging from very mild to life-threatening. Most EDS patients have joint hypermobility, meaning they can easily be dislocated. […] The prevalence of EDS differs by type of disease. […] Hypermobile EDS is thought to affect between 1 in 5,000 and 1 in 20,000 individuals. The classical type is more rare, thought to affect between 1 in 20,000 and 1 in 40,000 individuals. Classical-like EDS is difficult to distinguish in medical literature reporting from the classical type, and so may also occur in roughly 1 in 20,000 to 1 in 40,000 people. […] Other types of EDS are very rare, with only a few cases reported worldwide. Dermatosparaxis EDS is an example of an extremely rare type of EDS, with only a few cases recorded in medical literature. Vascular EDS is reported to have a prevalence of 1 in 100,000 individuals, and cardiac-valvular EDS a prevalence of less than 1 in a million people.

• #9 Orphanet: Vascular Ehlers-Danlos syndrome

  https://www.orpha.net/en/disease/detail/286

  A rare genetic connective tissue disorder typically characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits. […] The true prevalence of vascular Ehlers-Danlos syndrome (vEDS) is unknown, due to underdiagnosis of both symptomatic and milder forms of the disease. Prevalence estimates range between 1/50 000 and 1/200 000. […] Overall, patients with vEDS are exposed to recurrent organ complications, estimated at a rate of 1.6 events/5 years, 1.3 events/5 years for arterial complications. Overall life-expectancy is reduced to a median 51 years of age, but with an important range in age of survival for individual patients.

• #10 Vascular Ehlers-Danlos Syndrome: Causes, Symptoms and Treatment

  https://my.clevelandclinic.org/health/diseases/22696-vascular-ehlers-danlos-syndrome

  Ehlers-Danlos syndrome overall is a rare condition, only affecting 1 in 5,000 people. The vascular type of this condition is even rarer, with only 1 case per 200,000 to 250,000 people. […] Because vascular EDS is a genetic condition, there’s no way to prevent it or reduce your risk of developing it. People with this condition should consider talking to a healthcare provider if they become pregnant or want to have children, so they can know what to expect if their child inherits this condition. […] People with vascular EDS have a high risk of complications and problems related to bleeding or fragile internal tissues and organs. Most people with this condition will have at least one instance of severe complications or related conditions by age 20. The risk of having life-threatening complications is 80% by age 40. Half of the people with this condition will live to at least age 48.

• #11 Ehlers–Danlos syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Ehlers%E2%80%93Danlos_syndrome

  EhlersDanlos syndromes are estimated to occur in about one in 5,000 births worldwide. Initially, prevalence estimates ranged from one in 250,000 to 500,000 people, but these were soon found to be low, as medical professionals became more adept at diagnosis. EDS may be far more common than the currently accepted estimate due to the wide range of severities with which the disorder presents. […] The prevalence of the disorders differs dramatically. The most common is hypermobile EDS, followed by classical EDS. The others are very rare. For example, fewer than 10 infants and children with dermatosparaxis EDS have been described worldwide. […] Some types of EDS are more common in Ashkenazi Jews. For example, the chance of being a carrier for dermatosparaxis EDS is one in 2,000 in the general population but one in 248 among Ashkenazi Jews.

• #12 Genetics of Ehlers-Danlos Syndrome: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/943567-overview

  A study by Kim et al using the 2000-2012 National Inpatient Sample (NIS) indicated that compared with controls, hospitalized patients with EDS have a significantly greater likelihood of suffering from various cerebrovascular conditions, including carotid dissection, vertebral dissection, cervical artery aneurysm, cerebral aneurysm, and cerebrovascular malformation. […] Ehlers-Danlos syndrome equally affects all races. […] Of the 6 major types of Ehlers-Danlos syndrome classified by Villefranche nosology, both males and females are equally affected, as the genetic coding causing the differing phenotypes are located on the autosomes (chromosomes 1-22) and not the sex chromosomes (X or Y). […] Ehlers-Danlos syndrome is a genetic disorder. As such, this syndrome and its various types are present at birth; however, symptoms may not become apparent until later in life.

• #13 Ehlers-Danlos Syndrome | Doctor

  https://patient.info/doctor/ehlers-danlos-syndromes

  Overall, EDS has an estimated prevalence of 1:5,000 to 1:250,000 births. […] The ratio of affected women to men is about 8:1. […] The classical type occurs in 1 in 20,000 to 1 in 40,000 people. […] The vascular type is rare and the estimates of prevalence vary but is thought to affect around 1 in 250,000. […] The arthrochalasia type and the kyphoscoliosis type have each been described in fewer than 100 individuals worldwide. […] Only 10 cases of the dermatosparaxis type have been described.

• #14 Ehlers-Danlos Syndrome: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1114004-overview

  The prevalence of Ehlers-Danlos syndrome (EDS) is reported to be 1 case in approximately 400,000 people, but mild or incomplete forms appear to be underdiagnosed and more common than other forms. The frequency of vascular Ehlers-Danlos syndrome has been estimated at 1 case in 50,000 to 1 case in 200,000. […] No racial predominance seems to exist; however, some believe that Whites probably are affected more than other races. The sex-related prevalences are almost equal. The disease has clinical features (eg, joint mobility, skin extendibility, scarring tendency) that are easily recognizable beginning in early childhood. The other clinical manifestations require more time to become evident. Ehlers-Danlos syndrome is usually diagnosed in young adults.

• #15 Ehlers-Danlos Syndrome | Concise Medical Knowledge

  https://www.lecturio.com/concepts/ehlers-danlos-syndrome/

  The combined prevalence of all types is reported to be 1 case per 5000 people. […] The classical and hypermobility subtypes of EDS account for the majority of cases. […] 50% of patients have an affected parent. […] Caucasians more commonly affected than other races. […] Women = men. […] Dermatosparaxis type more common in Ashkenazi Jews.

• #16 Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN) – PubMed

  https://pubmed.ncbi.nlm.nih.gov/35779834/

  Vascular Ehlers-Danlos syndrome (vEDS) is a rare genetic disorder clinically characterized by vascular, intestinal and uterine fragility and caused by heterozygous pathogenic variants in the COL3A1 gene. […] Management of patients with vEDS is difficult due to the unpredictability of the events and clear recommendations on the care of adults and children with vEDS are lacking. […] Therefore, we aimed to collect data on the current strategy of surveillance and monitoring of vEDS patients by expert centers in continental Europe and Great Britain, as a first step towards a consensus statement. […] All experts endorse the importance of monitoring patients with vEDS. […] Despite the absence of evidence based guidelines monitoring is considered in almost all countries, but screening intervals and modalities used for monitoring may differ among centers. […] There is a need for more prospective multicenter studies to define proper guidelines.

• #17 The Ehlers-Danlos syndromes (EDS) GP Toolkit

  https://gptoolkit.ehlers-danlos.org/

  The median time from symptom onset to seeking a GP opinion is 2 years and the median time to diagnosis 10 years. If we make an early diagnosis and manage the conditions appropriately, there may be potential to reduce long term disability which can occur from EDS. Enquire about family members; these are hereditary disorders of connective tissue so positive family histories are common. Although no gene has yet been identified, hEDS is primarily of autosomal dominant inheritance. […] Many hypermobile patients will be managed, at least for the majority of their lives, solely within Primary Care. There may not be much advantage to your patient from seeing a rheumatologist who does not have a special interest in hypermobility, certainly not simply for confirmation of a hEDS or HSD diagnosis. However, there are certain situations where a referral may be advisable.

• #18 Vascular Ehlers-Danlos Imaging – The VEDS Movement

  https://thevedsmovement.org/what-to-expect/vascular-ehlers-danlos-syndrome-treatment-and-management/imaging/

  Currently, there are no evidenced-based guidelines for surveillance. Therefore, the type of surveillance and the recommended intervals for imaging for people with Vascular Ehlers-Danlos Syndrome (VEDS) vary from no imaging to imaging every 18 months. […] When imaging is conducted and abnormalities are identified, monitoring is important to determine if treatment is appropriate. Doctors may recommend an annual physical examination. People with known artery problems may need an evaluation by ultrasound or computerized tomography angiography (CTA) or magnetic resonance angiography (MRA) at specified intervals.

• #19 Diagnosis and treatment of the Ehlers-Danlos syndromes in China: synopsis of the first guidelines | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03121-0

  An MDT approach is recommended for the medical assessment of patients clinically suspected to have EDS. […] The Guidelines also emphasize an MDT collaboration during the genetic testing stage to improve outcomes. […] The collective integration of nursing care, rehabilitation, psychology, and nutrition within an MDT approach is increasingly acknowledged as crucial for optimizing patient care, especially in complex disorders requiring holistic and multidisciplinary interventions. […] One of the limitations of the Guidelines is that because EDS is a rare disease and there are few studies on relevant populations, it is difficult to form high-quality evidence for the research questions raised in the Guidelines. […] We believe that the establishment of the Group and the publication of the Guidelines will substantially enhance the quality of life for patients and families affected by EDS.

• #20 Ehlers-Danlos Syndrome – Rheumatology Advisor

  https://www.rheumatologyadvisor.com/ddi/ehlers-danlos-syndrome/

  Careful monitoring of Ehlers-Danlos patients is recommended. Regular hypertension and arterial disease screening should be conducted, as these increase the complications associated with blood vessel fragility. Pregnant patients with Ehlers-Danlos syndrome should be followed and managed by obstetricians trained in high-risk pregnancy. Due to Ehlers-Danlos being a multi-system disease process, patients benefit most from an inter-professional approach to their care. A knowledgeable primary care physician is needed and should coordinate the patients care for both surveillance and treatment needs.

• #21 Research Advances in Understanding the Etiology, Epidemiology, Pathophysiology, Clinical Features, and Management of the Ehlers Danlos Syndrome Disorders | Frontiers Research Topic

  https://www.frontiersin.org/research-topics/31428/research-advances-in-understanding-the-etiology-epidemiology-pathophysiology-clinical-features-and-management-of-the-ehlers-danlos-syndrome-disorders/magazine

  The Ehlers Danlos Syndrome (EDS) disorders are a group of heritable connective tissue disorders generally characterized by joint hypermobility and variable manifestations involving the skin, soft tissue and other body systems. Although considered rare, the true prevalence is anticipated to be much higher than currently appreciated, primarily due to lack of awareness among the healthcare community. […] The most common subtype of EDS is likely hypermobile EDS (hEDS), the only subtype relying on a clinical diagnosis and currently without a defined genetic basis. Early diagnosis of EDS is important to prevent and reduce disease-related complications, as well as inappropriate medical care, especially given the presence of multisystem involvement of disease and frequency of un/misdiagnosed patients.

• #22 Vascular Ehlers-Danlos syndrome in children: evaluating the importance of diagnosis and follow-up during childhood | European Journal of Human Genetics

  https://www.nature.com/articles/s41431-024-01773-x

  Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited connective tissue disorder predominantly caused by pathogenic COL3A1 variants. […] We highlight a paucity of literature regarding children diagnosed with vEDS, possibly explained by a restraint in predictive testing, and present data on 63 individuals (23 index cases) with a clinical and genetic diagnosis of vEDS in childhood (18 years) to address this. […] Our findings emphasise the importance of offering genetic testing in childhood when there is a positive family history of vEDS and/or features suggestive of a potential inherited connective tissue disorder. Diagnosis in childhood allows for follow-up surveillance and informed multi-disciplinary management, in addition to genetic counselling and patient-led management including lifestyle modification.

• #23 Vascular Ehlers-Danlos syndrome in children: evaluating the importance of diagnosis and follow-up during childhood | European Journal of Human Genetics

  https://www.nature.com/articles/s41431-024-01773-x

  In most individuals (n=35, 55.5%) diagnostic investigations were due to a positive family history of vEDS, initiated as part of familial genetic testing. […] Following diagnosis of vEDS in childhood by the London EDS service, individuals are primarily referred to the Inherited Cardiovascular Disease Clinic at GOSH where cardiovascular management is discussed, and individuals are followed-up in joint vEDS clinics with the London EDS service team. […] To date, no standardised international guidelines for management and surveillance in children with vEDS have been published, however specialists involved in their clinical care recommend periodic surveillance, by scanning of the aorta and arterial tree, and some form of blood pressure lowering medication.

• #24 Prevalence of Scoliosis in Hypermobile Ehlers-Danlos Syndrome – EMJ

  https://www.emjreviews.com/rheumatology/article/prevalence-of-scoliosis-in-hypermobile-ehlers-danlos-syndrome-j190221/

  Objective: The main purpose of this study was to evaluate the prevalence, form, and severity of scoliosis in a population of adults meeting the 2017 criteria for hypermobile Ehlers-Danlos syndrome (hEDS). The second objective was to compare the prevalence of scoliosis versus other criteria at initial hEDS diagnosis. […] EDS are rare diseases, with an estimated global frequency of one in 5,000.5 Inheritance is most often autosomal dominant but with variable expression in the same family. […] Limited data exist in the literature regarding the prevalence and severity of scoliosis in EDS and, in particular, in hEDS. […] This study provides interesting information regarding frequency of scoliosis and scoliotic inflection in a group of patients with hEDS. […] Highlighting the prevalence of scoliosis in patients with hEDS, this study supports the importance of considering screening for scoliosis in any patients meeting the criteria for hEDS. Regular follow-ups could avoid scoliosis progression by appropriate management. […] This retrospective study showed that scoliotic inflections and scoliosis are frequent in patients with hEDS. Considering this observation, the authors recommend performing full spinal X-ray in all patients with hEDS at the time of initial diagnosis and regularly during follow-up.

• #25 Ehlers-Danlos Syndrome | PM&R KnowledgeNow

  https://now.aapmr.org/ehler-danlos-syndrome/

  The actual prevalence of EDS is unknown, because many patients fail to be diagnosed, particularly if they demonstrate only a single symptom of the syndrome. The incidence may be as high as 1 in 5000 births, with no ethnic or racial predisposition. […] There is a lack of well-designed large studies evaluating the true prevalence and natural history. […] The knowledge of the underlying biology of EDS is limited regarding genetic pathways that contribute to disease etiology and pathogenesis. […] There is no consensus on cardiac surveillance. […] There are no prospective studies evaluating the optimal strategies to promote joint protection, minimize pain, and improve function. […] No consensus on the rehabilitation protocol for patients with EDS.

• #26 Research Advances in Understanding the Etiology, Epidemiology, Pathophysiology, Clinical Features, and Management of the Ehlers Danlos Syndrome Disorders | Frontiers Research Topic

  https://www.frontiersin.org/research-topics/31428/research-advances-in-understanding-the-etiology-epidemiology-pathophysiology-clinical-features-and-management-of-the-ehlers-danlos-syndrome-disorders/magazine

  Moreover, the prevalence of certain subtypes like hEDS remain underappreciated, as does the mechanism driving hEDS-related pathology and co-morbid conditions, such as orthostatic intolerance or immunologic dysfunction. A collective research topic presenting articles related to understanding disease prevalence, multisystem manifestations, best treatment and management practices, and even future goals to fill current knowledge gaps will help to enable healthcare provider awareness and ultimately improve patient outcomes.

• #27 How Common is Ehlers Danlos Syndrome? | The EDS Clinic

  https://www.eds.clinic/articles/eds-prevalence

  Research, such as a study in Wales analyzing electronic medical records, suggests that hEDS and hypermobility spectrum disorders (HSD) might be more common than previously thought, with prevalence rates as high as 1 in 500 individuals in certain populations. This raises questions about whether EDS should still be classified as a rare disease. […] Knowing how common EDS is helps direct resources for better diagnosis, treatment, and research. As awareness grows, the need for specialized care centers, education for healthcare providers, and support for individuals with EDS becomes increasingly evident. […] Research continues to improve our understanding of EDS prevalence. Larger, population-based studies using standardized diagnostic criteria are essential for more accurate estimates. This, combined with increased global awareness and advocacy, can shift the narrative from „rare” to „underdiagnosed” for certain EDS subtypes, ultimately leading to better care and outcomes for those affected.

• #28 Prevalence of Ehlers-Danlos Syndromes in the United States — Ehlers-Danlos Syndrome Research Foundation

  https://www.edsrf.org/research-projects/p5

  Currently Underway Mar 28 Written By Amber Amburgey […] PROJECT GOAL: To estimate the prevalence of Ehlers-Danlos syndromes and related comorbidities in the United States. […] SUMMARY: This project will use a global federated health research network, called TriNetX, that provides access to electronic medical records (diagnoses, procedures, medications, laboratory values, genomic information) across large healthcare organizations (HCOs).

• #29 Patient interest in the development of a center for Ehlers-Danlos syndrome/hypermobility spectrum disorder in the Chicagoland region | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03109-w

  The Ehlers-Danlos Syndromes (EDS) are a group of connective tissue disorders that are hereditary in nature and characterized by joint hypermobility and tissue fragility. […] In order to explore and begin to address barriers to seeking appropriate care facing EDS patients in this region, we developed an online survey which we circulated through EDS social media groups for Chicagoland patients. […] We found that there exists a strong medical need for and interest in the development of a center in the region, and participants reported that, if made available to them, they would make extensive and regular use of such a facility. […] We conclude that the establishment of a collaborative medical center specializing in the diagnosis and treatment of EDS, Hypermobility Spectrum Disorder, and related disorders in the Chicagoland area would greatly benefit patients by providing comprehensive care, alleviate the burden on overworked healthcare providers, and contribute to the sustainability of medical facilities.

• #30 Patient interest in the development of a center for Ehlers-Danlos syndrome/hypermobility spectrum disorder in the Chicagoland region | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03109-w

  As patients in the Chicagoland area report past dissatisfaction with services and poor access to qualified services, it appears that the creation of a center dedicated to treating patients with EDS/HSD and related disorders would be highly beneficial, valued, and accessed. […] Our results show that there is dissatisfaction with current care and a significant need for improved future care for the EDS/HSD population. […] It has been proposed that patients with diagnoses of EDS/HSD and related disorders would benefit from access to a medical system that provides them with: (a) one single point of entry into coordinated healthcare services, (b) a team of EDS/HSD-informed providers who are sensitive to the connection between their symptoms, (c) access to a network of EDS/HSD-aware specialty medical disciplines for referral and consultation, and (d) access to a collaborative medical model in which providers work together both within and beyond the center to discuss and plan treatment for these complex patients. […] Creation of such a center would offer synergistic benefits to the patients, medical providers, and the healthcare facilities that serve them.

• #31 Diagnosis and treatment of the Ehlers-Danlos syndromes in China: synopsis of the first guidelines | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03121-0

  The Ehlers-Danlos syndromes (EDS) are a group of rare hereditary connective tissue disorders. […] The cumulative prevalence of EDS was estimated to be 1 in 5,000 back in 2002. […] The challenges in diagnosis and management of EDS have long been recognized. […] The average diagnostic delay from first symptom is around 14 years, which is likely to be consequential. […] The barriers are partially caused by the complex nature of EDS, limited awareness, and lack of practical guidelines. […] The Guidelines highly recommend a coordinated MDT approach in both diagnosing and managing EDS, alongside 29 specific recommendations addressing crucial clinical questions encountered across 23 departments. […] The Guidelines aim not only to aid the recovery in hospital settings but more significantly, to the transition from a life defined by illness to one that is more normalized.

• #32 Ehlers-Danlos syndrome (EDS)

  https://dermnetnz.org/topics/ehlers-danlos-syndrome

  The global frequency of EDS is about 1 in 5000. EDS may occur in males and females of all races and usually first becomes apparent in childhood and young adult life. […] The patient should have regular blood pressure monitoring and arterial disease screening to reduce the risk of bleeding and vascular complications. Non-invasive screening ultrasound, computed tomography (CT) scan, echocardiogram, and magnetic resonance imaging (MRI) may be performed to identify potential complications. Invasive screening procedures should be considered with care. Dual-energy X-ray absorptiometry (DEXA) bone density scans should be performed every few years. Patients with kEDS should have an eye check regularly, as they are at risk of eye complications.

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