Materiały źródłowe

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

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

  Ehlers-Danlos syndrome (EDS) is a genetic disorder affecting collagen formation and function. Proper diagnosis of EDS is essential to improving the overall health and well-being of affected patients as well as mitigating these complications. […] It is largely diagnosed clinically, although identifying the gene encoding the collagen or proteins interacting with it is necessary to identify the type of EDS. Identifying the type of EDS to guide management and counseling is important. […] Diagnosis largely has its basis in identifying a collection of symptoms previously described that alert the practitioner to the possibility of Ehlers-Danlos syndrome. Following that suspicion, an initial evaluation of a patients complaints should be tailored to the specific system identified to determine if they are indeed consistent with EDS.

• #2 EDS Diagnostics 2017 – The Ehlers Danlos Society

  https://www.ehlers-danlos.com/eds-diagnostics/

  The path to an EDS and HSD diagnosis starts with an examination. This usually includes physical testing: […] If you believe that you, or someone you know, has one of the Ehlers-Danlos syndromes (EDS) or hypermobility spectrum disorders (HSD), you should ask your doctor to compare your symptoms to the diagnostic criteria. […] Most medical doctors should be able to diagnose EDS and HSD. However, because the Ehlers-Danlos syndromes are genetic disorders, primary care physicians often provide their patients with referrals to a geneticist. […] Early diagnosis is important. When patients and their medical team know which type of EDS or HSD they are dealing with, they can determine the proper course of treatment, therapy, and lifestyle adjustments necessary to build a healthy, happy, and productive life.

• #2 EDS Diagnostics 2017 – The Ehlers Danlos Society

  https://www.ehlers-danlos.com/eds-diagnostics/

  Diagnosis of a type of EDS comes by finding the one that most matches the patients symptoms. There are clinical criteria, available in the papers here, that help guide diagnosis; your signs and symptoms will be matched up to the major and minor criteria to identify the subtype that is the most complete fit. […] The diagnostic criteria for each type of EDS can be found here. […] The 2017 diagnostic criteria for hEDS were developed to assess adults. Children with generalized joint hypermobility can be assessed using the 2023 Diagnostic Framework for Pediatric Generalized Joint Hypermobility.

• #3 Ehlers-Danlos Syndrome: Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/17813-ehlers-danlos-syndrome

  Ehlers-Danlos syndrome is a genetic disorder. Talk to a healthcare provider about testing for EDS if someone in your biological family has it (an immediate relative like a biological parent, grandparent or sibling). […] A healthcare provider will diagnose Ehlers-Danlos syndrome with a physical exam and by discussing your medical history. Theyll examine your skin and joints and ask you about your symptoms. Tell your provider when you first noticed symptoms or if any activities make them worse. […] Most people with Ehlers-Danlos syndrome dont have a known genetic mutation, so providers usually diagnose it based on your symptoms and medical history. […] Your healthcare provider will suggest treatments for Ehlers-Danlos syndrome that help you manage your symptoms and prevent dangerous complications. Which treatments will work for you depends on which type of EDS you have and how your connective tissue is affected.

• #4 Diagnosing Ehlers-Danlos Syndrome | Neurological Surgery

  https://neurosurgery.weillcornell.org/condition/ehlers-danlos-syndrome-eds/diagnosing-ehlers-danlos-syndrome

  A diagnosis of Ehlers-Danlos Syndrome (EDS) will start with a physical exam and an individual health history, which can reveal any conditions associated with EDS (such as a pattern of frequent injuries). […] A doctor, typically a geneticist, will test for extra-loose joints, odd scarring (often noted to look like cigarette paper), and abnormal skin (loose and stretchy; unusually soft and velvety). […] An individuals specific signs and symptoms that are revealed in the clinical physical exam and history, in addition to results from the following tests, will help to narrow down the diagnosis to the specific type of Ehlers-Danlos Syndrome. […] A physician may make a diagnosis of EDS based on examination of a persons skin and joints and learning the family history. However, genetic (DNA) testing may also be ordered to confirm EDS or the specific type that is present by pinpointing the specific genes that are mutated.

• #4 Diagnosing Ehlers-Danlos Syndrome | Neurological Surgery

  https://neurosurgery.weillcornell.org/condition/ehlers-danlos-syndrome-eds/diagnosing-ehlers-danlos-syndrome

  Not all patients have DNA testing that finds an underlying mutation and this doesnt rule out EDS it only rules out those types that have been identified. […] In addition, imaging studies, such as the following, are often used to determine the specific type of EDS: […] Computerized tomography (CT) is a noninvasive procedure that uses X-rays to produce a three-dimensional image of the spine. […] Magnetic resonance imaging (MRI) uses magnetic fields and radio-frequency waves to create an image of the spine that reveals the discs, nerves, spinal canal, and other details that cant normally be seen on an X-ray. […] An MRI may also be used to check for spinal-cord compression. […] Electromyogram and nerve-conduction studies (EMG/NCS) measure the electrical activity in the nerves and muscles. They may any identify nerve damage or nerve compression that EDS has led to. […] Pulmonary-function tests may be ordered to determine if lung function is restricted due to decreased space in the chest from kyphosis or scoliosis that can be features of a type of EDS.

• #5 Ehlers-Danlos Syndrome Symptoms & Treatment | Baptist Health

  https://www.baptisthealth.com/care-services/conditions-treatments/ehlersdanlos-syndrome

  How Is Ehlers-Danlos Syndrome Diagnosed? […] Diagnosing Ehlers-Danlos syndrome typically involves the following steps: […] Physical exam: Your physician will measure the range of motion exhibited by your joints. A greater-than-normal range for example, an ability to bend your forearms below the elbow with your hands facing up, opposite of the normal direction may indicate EDS. Your doctor will also examine your skin, to determine its elasticity and conduciveness to cuts, bruises, and injury. […] Family medical history: EDS has a strong genetic component, so your physician will be particularly interested in whether your parents or other family members have been diagnosed with this disorder. […] Echocardiogram: In some cases, such as vascular EDS, your symptoms may not be readily obvious. If your doctor suspects that you have issues with your heart or arteries, he or she may order an echocardiogram. Echocardiography is an imaging technology for the circulatory system that utilizes soundwaves to create pictures for medical analysis.

• #5 Ehlers-Danlos Syndrome Symptoms & Treatment | Baptist Health

  https://www.baptisthealth.com/care-services/conditions-treatments/ehlersdanlos-syndrome

  Other imaging tests: X-rays, CT scans, or magnetic resonance imaging (MRI) scans can provide detailed images of joints and other structures impacted by EDS. […] Biopsy: A biopsy is the medical examination of a small sample of live cells for evidence of disease or abnormalities. A physician ordering an EDS biopsy will want to determine whether the collagen being produced by the body is normal and healthy or deficient in some manner. […] Its possible that your doctor will also refer you to a genetic specialist. He or she will conduct molecular testing to more precisely identify the type of EDS or other connective-tissue disorder that your symptoms are indicating.

• #6 Ehlers-Danlos syndrome – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/ehlers-danlos-syndrome/diagnosis-treatment/drc-20362149

  Extremely loose joints, fragile or stretchy skin, and a family history of Ehlers-Danlos syndrome are often enough to make a diagnosis. […] Genetic tests on a sample of your blood can confirm the diagnosis in rarer forms of Ehlers-Danlos syndrome and help rule out other problems. […] For hypermobile Ehlers-Danlos syndrome, the most common form, there is no genetic testing available. […] Your doctor may ask some of the following questions: Are any of your joints overly flexible? […] Is your skin extra stretchy? […] Does your skin heal poorly after injuries?

• #7 Ehlers-Danlos syndrome | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/ehlers-danlos-syndrome

  Extremely loose joints, fragile or stretchy skin, and a family history of Ehlers-Danlos syndrome are often enough to make a diagnosis. Genetic tests on a sample of your blood can confirm the diagnosis in rarer forms of Ehlers-Danlos syndrome and help rule out other problems. For hypermobile Ehlers-Danlos syndrome, the most common form, there is no genetic testing available. […] Your doctor may ask some of the following questions: Are any of your joints overly flexible? Is your skin extra stretchy? Does your skin heal poorly after injuries?

• #8 Ehlers-Danlos Syndrome – Rheumatology Advisor

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

  The diagnosis of EDS is largely based on patient history and clinical findings. Any collection of symptoms listed above should alert the medical practitioner to the possibility of Ehlers-Danlos. Once a diagnosis of Ehlers-Danlos syndrome has been presumed or determined, genetic testing can help differentiate between subtypes. […] If Ehlers-Danlos syndrome is suspected, a thorough medical and family history of the patient should be obtained. Skin and joints should be assessed for hyperextensibility. Joint hyperextensibility should be evaluated using the Beighton scale, a clinical rating scale used to assess joint laxity and hypermobility. […] To differentiate between specific subtypes of Ehlers-Danlos, referral to a geneticist who can perform diagnostic genetic testing is recommended. A genetic Ehlers-Danlos syndrome test can distinguish twelve of the thirteen subtypes. No genetic testing is available for the most common subtype, hypermobility Ehlers-Danlos syndrome.

• #8 Ehlers-Danlos Syndrome – Rheumatology Advisor

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

  This subtype must be diagnosed through clinical findings, meeting three specific criteria as outlined in the 2017 International Classification for the Ehlers-Danlos Syndromes. A summary of the three criteria are as follows, and all three must be met for a confirmed diagnosis of hypermobility Ehlers-Danlos: Generalized joint hypermobility (GJH) Breighton score 5 to 9, though cutoff may vary slightly with age; Two or more features among three groupings of systemic manifestations, family history and/or musculoskeletal complications; Absence of unusual skin frailty and exclusion of other connective tissue disorders and alternative diagnoses.

• #9 How are Hypermobility and EDS diagnosed? – The Fibro Guy

  https://www.thefibroguy.com/blog/how-are-hypermobility-and-eds-diagnosed/

  Ehlers-Danlos Syndromes (EDS) are a group of connective tissue disorders that can be inherited. They are generally characterized by joint hypermobility (joints that stretch further than normal), skin hyperextensibility (skin that can be stretched further than normal), and tissue fragility. The diagnosis of EDS is based on a combination of clinical criteria, physical examination, and in some cases, molecular testing. […] Diagnosis of EDS can indeed be a bit of a puzzle. Theres no one-size-fits-all test to pinpoint the condition. Instead, its a combination of delving into ones medical history and a thorough physical examination. In certain scenarios, genetic testing might be the key to unlocking the mystery, especially for specific EDS types. If you suspect you might have EDS, its crucial to consult with a healthcare professional, perhaps a rheumatologist or geneticist, whos well-versed in the nuances of EDS.

• #9 How are Hypermobility and EDS diagnosed? – The Fibro Guy

  https://www.thefibroguy.com/blog/how-are-hypermobility-and-eds-diagnosed/

  Each EDS type has a set of clinical criteria that help guide diagnosis. A patients physical signs and symptoms are matched up to the major and minor criteria to identify the type that is the most complete fit. Molecular diagnostic strategies, such as Next-Generation Sequencing (NGS) technologies, offer the potential for parallel sequencing of multiple genes, making the diagnosis more accurate.

• #10 Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders | AAFP

  https://www.aafp.org/pubs/afp/issues/2021/0415/p481.html

  Hypermobile Ehlers-Danlos syndrome (EDS) and hypermobility spectrum disorders are the most common symptomatic joint hypermobility conditions seen in clinical practice. Both are diagnosed by applying the 2017 diagnostic criteria, which also excludes other less common conditions presenting with joint hypermobility such as other forms of EDS and heritable connective tissue disorders. […] The diagnosis of hypermobile EDS/hypermobility spectrum disorders is made by medical history, physical examination, and exclusion of other conditions that present with musculoskeletal hypermobility. […] Diagnostic criteria for hypermobile EDS are listed in Figure 2. […] A differential diagnosis for joint hypermobility appears in Table 4. […] Once hypermobile EDS is suspected, the physician should determine the degree and pattern of hypermobility using a validated tool known as the Beighton score.

• #11 Hypermobility (hypermobile Ehlers Danlos syndrome) | Right Decisions

  https://rightdecisions.scot.nhs.uk/dgrefhelp-nhs-dumfries-galloway/musculoskeletal-system/hypermobility-hypermobile-ehlers-danlos-syndrome/

  Ehlers Danlos is a group of inherited conditions affecting connective tissue. Symptoms can include stretchy skin, hypermobile or unstable joints. […] The genetic forms of Ehlers Danlos are rare, some with just a few families worldwide who will almost certainly have been identified in early childhood. Genetic testing is available for these types. […] Hypermobile Ehlers Danlos is the commonest type and has no genetic test available. It can be diagnosed clinically. […] A score of 4 or more out of 9 suggests joint hypermobility. This is enough to make a diagnosis of a hypermobility syndrome. […] Patients may request a diagnosis of hEDS. This can be done by working through the diagnostic criteria here. This does not alter management in any way, which is still physiotherapy based.

• #12

  https://www.chronicpainpartners.com/diagnosing-eds/

  Diagnostic criteria differs depending on which type of EDS is suspected. Criteria for the 3 most common types of EDS are described below. […] The clinical diagnosis of Hypermobility Type EDS is typically established by family history and clinical examination. […] It is critical to use the current BRIGHTON DIAGNOSTIC CRITERIA for diagnosing Ehlers-Danlos Syndrome Hypermobility Type (HEDS)/ formerly EDS III, aka Joint Hypermobility Syndrome (JHS/BJHS), Hypermobility Syndrome (HMS). […] The Beighton Score is a diagnostic tool and only PART of the overall diagnostic criteria for HEDS. […] The combination of the first three major diagnostic criteria should have a high specificity for EDS, Classical Type. […] The presence of one or more minor criteria contributes to the diagnosis of the Classical Type of EDS, but is not sufficient to establish the diagnosis.

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

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

  Each type of EDS has its own clinical diagnostic criteria. Clinical diagnostic criteria are a set of symptoms and characteristics observed in each condition. If a person meets the diagnostic criteria for a type of EDS, a genetic test should be done to confirm the diagnosis. […] The genetic cause(s) of hEDS have not yet been identified, so there is currently no genetic test available to diagnose hEDS. The diagnosis of hEDS is given to those who meet the clinical diagnostic criteria for hEDS. […] If a person has symptomatic joint hypermobility but does not meet the diagnostic criteria for any type of EDS or other condition that can cause similar symptoms, then the hypermobility spectrum disorders (HSD) should be considered.

• #14 Ehlers-Danlos syndrome – Symptoms, diagnosis and treatment | BMJ Best Practice

  https://bestpractice.bmj.com/topics/en-gb/570

  Ehlers-Danlos syndromes are inherited connective tissue disorders, characterised by joint hypermobility, skin hyperextensibility, and tissue fragility. […] Definitive diagnosis for all subtypes of EDS, except hypermobile EDS, can be made by molecular genetic testing. The genetic basis of hypermobile EDS remains unknown and the diagnosis is made by clinical criteria only. […] Key diagnostic factors include presence of risk factors, joint hypermobility, joint or spine pain, motor delay in infancy, chronic pain syndrome, fatigue, recurrent joint dislocation or subluxation, muscle pain and/or muscle spasm, soft, silky skin texture, semi-transparent skin, thin and stretchy double fold of skin, atrophic scars, easy bruising, stretch marks, poor wound healing and/or wound dehiscence, significant injury, and history of delayed onset of local anaesthesia. […] 1st investigations to order include clinical diagnosis and genetic testing.

• #15 Ehlers-Danlos Syndrome | Doctor

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

  These syndromes are a group of heritable, connective tissue disorders characterised by joint hypermobility, skin hyperextensibility and tissue fragility. […] In the case of hypermobile EDS (hEDS), diagnosis is normally made on the clinical presentation. […] Molecular genetic testing is now recommended for the definitive diagnosis of the other subtypes, although not all patients with the specific condition will demonstrate the associated mutation. […] Since the publication of the 2017 criteria, the diagnosis of hEDS is made only in those who meet all of criteria 1, 2 and 3 described below, and should be made by a clinician experienced in EDS. […] There is currently no 'gold standard’ laboratory test to confirm or refute the diagnosis of hEDS. […] Diagnosis of cEDS requires skin hyperextensibility and atrophic scarring PLUS either GJH or at least three minor criteria.

• #15 Ehlers-Danlos Syndrome | Doctor

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

  The inheritance is usually autosomal dominant. Most cEDS patients have a mutation in one of the genes encoding type V collagen, although there are other rare variants. Molecular testing is needed to reach a final diagnosis. […] Diagnosis requires this, together with skin hyperextensibility OR severe GJH with multiple dislocations/subluxations, PLUS at least two other minor criteria. Confirmatory testing is needed for a final diagnosis. […] Diagnosis requires congenital muscle hypotonia and congenital or early-onset kyphoscoliosis, plus either GJH or three minor criteria. Confirmatory testing is needed for a final diagnosis. […] Diagnosis is based on a positive family history arterial rupture or dissection before the age of 40 years, unexplained sigmoid colon rupture, or spontaneous pneumothorax, in the presence of other features consistent with vEDS. […] Diagnosis requires extreme skin fragility and the characteristic craniofacial features, plus either one other major criterion or three minor criteria. Confirmatory testing is needed for diagnosis. […] Diagnosis requires congenital bilateral hip dislocation.

• #16 Classic Ehlers-Danlos Syndrome (cEDS) – Ehlers-Danlos Syndromes New Zealand

  https://ehlers-danlos.org.nz/ceds/?srsltid=AfmBOops1wUuR4PzMEMCQdKWs76fjhqGo7aR8OQ5CADxYOLplzuJCtBZ

  Classical EDS can be diagnosed both clinically and by genetic testing. […] To meet the diagnostic criteria for cEDS, a person must meet: Major criterion 1 AND Major criterion 2 OR Major criterion 1 AND three or more minor criteria. […] Major Criteria Include: Skin hyperextensibility and atrophic scarring, Generalized joint hypermobility. […] Minor Criteria Include: Easy bruising, Soft, doughy skin, Skin fragility (or traumatic splitting), Molluscoid pseudotumors, Subcutaneous spheroids, Hernia (or history thereof), Epicanthal folds, Complications of joint hypermobility (e.g., sprains, dislocations/subluxations, pain, flexible flatfoot), Family history of a first-degree relative who meets clinical criteria.

• #17 Ehlers-Danlos syndrome: Diagnosing and treating an ‘invisible’ disease | Men’s Health | Women’s Health | UT Southwestern Medical Center

  https://utswmed.org/medblog/ehlers-danlos-diagnosis-care/

  Vascular EDS, the most serious type, increases the risk of organ rupture, and patients might need to see a cardiologist to determine whether their heart or blood vessels have been damaged. […] The relief patients feel after getting a medical explanation for their symptoms can be life-changing. […] Until we find a cure, the goal of EDS treatment is to increase strength, which will decrease pain, discomfort, and fatigue. […] We customize treatment plans by collaborating with our pain management colleagues. […] The stronger they become mentally and physically the more they fill their tank and feel better.

• #18 Vascular Ehlers-Danlos Syndrome Diagnosis – The VEDS Movement

  https://thevedsmovement.org/what-to-expect/diagnosis/

  The diagnosis of Vascular Ehlers-Danlos syndrome, or VEDS, is based on careful assessment of the medical and family history and a physical examination that is designed to determine if major features are present. The diagnosis is then confirmed (or excluded) by the analysis of the DNA sequence of the COL3A1 gene (both copies), which can be extracted from blood, cells in saliva, or other tissues. This testing may include DNA sequence analysis, deletion/duplication analysis, and biochemical (protein-based) testing. […] Genetic testing detects 98% of the changes in the gene for VEDS; the rest require more specialized tests. Genetic testing is strongly recommended to confirm a diagnosis of Vascular Ehlers-Danlos syndrome when a person has any one of the major features of the condition. VEDS should be suspected in individuals with any one of the major features below or several minor features, particularly in those younger than age 40 years.

• #19 Ehlers-Danlos Syndrome Test Guide COL5A1 and COL5A2

  https://uwcpdx.org/collagen-diagnostic-laboratory/ehlers-danlos-syndrome-test-guide/

  The vast majority of probands in families with this form of EDS are identified on the basis of a major complication either bowel perforation or vascular aneurysm or rupture. […] DNA-based testing is recommended for those who meet these guidelines. […] The clinical diagnosis of EDS type IV is highly suspected when two major diagnostic criteria are present: Intestinal rupture, Arterial rupture, Uterine rupture during pregnancy, Family history of the vascular type of EDS. […] In each instance, if a mutation is identified, testing of at-risk relatives is available by directed sequencing of the appropriate gene segment.

• #20 Vascular Ehlers Danlos Syndrom | VEDS | Marfan Foundation

  https://marfan.org/conditions/veds/

  Genetic testing detects 98% of the changes in the gene for VEDS; the rest require more specialized tests. Genetic testing is strongly recommended to confirm a diagnosis of Vascular Ehlers-Danlos syndrome when a person has any one of the major features of the condition. VEDS should be suspected in individuals with any one of the major features or several minor features, particularly in those younger than age 40 years.

• #21 Ehlers-Danlos Syndrome: Symptoms, Diagnosis, Treatment

  https://www.webmd.com/a-to-z-guides/ehlers-danlos-syndrome-facts

  Your doctor will likely start with a physical exam: […] Sometimes, a diagnosis can be made at this point. Or, your doctor may order other tests. […] Sometimes, genetic testing can confirm that you have EDS. A quick blood test can look for some of the gene mutations (changes) that cause EDS. But if no changes are found, it doesn’t mean that you don’t have EDS. It only means that you don’t have the specific gene changes that the test looked for. […] Other tests can help your doctor better understand how EDS is affecting your body. For instance: […] Your doctor might also take a skin biopsy. For that, they’ll take a small sample of your skin to look for signs of abnormal collagen under a microscope. They might also run chemical tests on the sample to try to find out which type of EDS you might have. […] At times, a urine (pee) sample can also be tested to get more information.

• #22 How Long Does It Take to Get Diagnosed with EDS? | The EDS Clinic

  https://www.eds.clinic/articles/hard-to-get-eds-diagnosis

  Ehlers-Danlos Syndrome (EDS) presents a complex challenge for both patients and healthcare providers, characterized by a wide range of symptoms and a lack of awareness that often leads to significant delays in diagnosis and appropriate management. […] The journey to an Ehlers-Danlos Syndrome (EDS) diagnosis can be long and fraught with challenges, with some cases stretching out over decades. On average, it takes patients more than 10 years and 15 doctor visits to get diagnosed with Ehlers-Danlos Syndrome. Patients are often given more than 10 different diagnoses before receiving the correct EDS diagnosis. This extended diagnostic delay underscores the urgent need for increased awareness and understanding of EDS among both the public and healthcare professionals. […] Evaluation for EDS typically involves a comprehensive assessment that includes a detailed medical history, physical examination, and possibly genetic testing. The 2017 International Classification for the Ehlers-Danlos Syndromes outlines specific criteria for diagnosing various EDS types, focusing on features such as joint hypermobility and family history.

• #22 How Long Does It Take to Get Diagnosed with EDS? | The EDS Clinic

  https://www.eds.clinic/articles/hard-to-get-eds-diagnosis

  In theory, diagnosing Ehlers-Danlos Syndrome should be straightforward for any doctor; however, patients often struggle to find doctors experienced enough with Ehlers-Danlos Syndrome to provide an accurate diagnosis. […] EDS can be diagnosed at any age, but the timing largely depends on the visibility and impact of symptoms. Some individuals receive a diagnosis in childhood or adolescence, especially in cases with pronounced manifestations. However, others might not be diagnosed until adulthood as symptoms become more apparent or debilitating. […] Patients often receive numerous alternative diagnoses before reaching an accurate EDS diagnosis, including fibromyalgia, chronic fatigue syndrome, and various mental health disorders. […] Despite diagnostic challenges, obtaining an official diagnosis of EDS is invaluable, validating the patient’s experiences and providing a framework for understanding their symptoms. Most importantly, a diagnosis opens the door to better treatment options, helping avoid further injury and enabling access to appropriate interventions and support networks designed to manage the condition effectively.

• #23 Diagnosis – The Ehlers-Danlos Support UK

  https://www.ehlers-danlos.org/what-is-eds/information-on-eds/diagnosis/

  For many people with Ehlers-Danlos syndrome the journey to diagnosis will have been a long and convoluted one. Poor awareness of the condition amongst medical professionals means that it can go undiagnosed. […] Typically people will wait years or decades for a diagnosis of EDS, if they get one at all. Yet diagnosis is very important. The Ehlers-Danlos syndromes are genetic and are passed on from parent to child in different ways according to the type in question (some follow a dominant pattern of inheritence, others recessive). A precise diagnosis gives information about the risk of passing the condition on in a family and about prognosis. Diagnosis guides proper management of the syndromes, which includes learning to avoid activities which might cause irreversible joint damage as well as unhelpful treatments such as inappropriate medication. […] For these reasons the prognosis is likely to be better if someone is diagnosed at a younger age. Many with EDS would also argue that diagnosis is important for psychological reasons, encouraging motivation and acceptance. Most would agree that its easier to tackle something when you know what youre dealing with. […] The diagnostic pathway differs according the type of EDS suspected, with a different route for hEDS/HSD to that for the rare types. This section explores how to go about getting assessed and what to expect.

• #24 An exploration of the journey to diagnosis of Ehlers-Danlos Syndrome (EDS) for women living in Australia | PLOS One

  https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0307574

  Ehlers-Danlos syndromes (EDS) is an umbrella term for a group of hereditary connective tissue disorders usually featuring hyperextensible skin, easy bruising, poor healing, and joint hypermobility. According to international Ehlers-Danlos support groups, the average time to diagnosis of this rare genetic condition is 10-12 years. Consequently, the journey to diagnosis can potentially be traumatic. This pilot study aims to explore female patients’ journey to a diagnosis of EDS while living in Australia. […] This pilot survey demonstrated that the journey to diagnosis of EDS for women in Australia is frequently long and traumatic. Participants indicated that more EDS education and training is needed for health professionals, especially GPs, to improve the diagnostic process. […] The primary aim of this study was to capture female patients’ perspectives and experience regarding their journey to diagnosis of EDS while living in Australia.

• #25 The average time to diagnosis… – The Ehlers-Danlos SocietyFacebookShared with Public

  https://www.facebook.com/ehlers.danlos/posts/the-average-time-to-diagnosis-of-an-ehlers-danlos-syndrome-eds-or-hypermobility-/10159251586630336/

  The average time to diagnosis of an Ehlers-Danlos syndrome (EDS) or hypermobility spectrum disorder (HSD) is 10-12 years: for some, it can take decades. Early diagnosis is crucial to positive patient health. […] Too many in our community report that they are forced to travel far and wide to access a physician who knows how to manage their healthcare, often at great personal expense, and often with incredibly long wait times of over two years. In some countries, there is no recognition of EDS or HSD, or very little knowledge or understanding on how to manage symptoms. […] As these conditions are multi-systemic, the problems often go unconnected for many years. Many report being told their symptoms “are all in their head” or that they cannot possibly be experiencing the pain or other symptoms they say they are. Misdiagnosis is common, delaying treatment, or resulting in unnecessary surgeries or unsuitable treatments.

• #26 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

  The proposed treatment and surveillance is mainly a consensus between authors, and is also based on recommendations in the literature. […] Findings from this cohort emphasise the importance of 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 management and follow-up, in addition to counselling for both children and their family.

• #27 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 development of clinical guidelines and implementation of coordinated multi-disciplinary team (MDT) approaches have emerged as global priorities. […] A coordinated MDT approach for the diagnosis and management of EDS is highly recommended by the Group, along with 29 specific recommendations addressing key clinical questions. […] The clinical diagnostic criteria for each subtype of EDS were published in the 2017 International Classification and the extended 2020 version. […] An MDT approach is recommended for the medical assessment of patients clinically suspected to have EDS. […] The Guidelines recommend physicians, especially dermatologists, pediatricians, or other physicians working in Initial Consultation Departments, to be aware of features that may not relate to primary complaints but are indicative of a diagnosis of EDS.

• #27 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 Guidelines also emphasize an MDT collaboration during the genetic testing stage to improve outcomes. […] The confirmation of the diagnosis in most of the subtypes requires genetic testing, but discrepancies between the clinical and molecular diagnosis have been observed. […] 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 first guidelines on EDS will shorten the diagnostic odyssey and solve the unmet medical needs of the patients.

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

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

  A symptoms-based approach to hEDS/HSD is then indicated. Discuss what issues are affecting the patient the most at present and work from there to build a long-term relationship of mutual learning. […] 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. […] If any hypermobile condition other than hEDS/HSD is suspected, referral is indicated so that formal genetic testing may be considered. […] Where a patient has ongoing musculoskeletal symptoms despite adequate analgesia, physiotherapy/OT/podiatry input, referral to rheumatology should be considered.

• #29 How do I get diagnosed with Ehlers-Danlos Syndrome? | The EDS Clinic

  https://www.eds.clinic/articles/how-to-official-eds-diagnosis

  Obtaining an official diagnosis of Ehlers-Danlos Syndrome (EDS) can be a detailed process, requiring a combination of clinical evaluation, family and medical history assessment, and possibly genetic testing. […] A specialist will conduct a thorough clinical evaluation, which may include: […] The 2017 International Classification for the Ehlers-Danlos Syndromes proposes specific criteria for diagnosing different types of EDS. […] For some types of EDS, genetic testing can confirm a diagnosis. […] After diagnosis, your specialist should provide guidance on managing EDS symptoms and may refer you to other healthcare professionals for comprehensive care. […] Although any doctor can technically diagnose EDS, most of the time patients need to find a doctor who has a personal interest in EDS to get a diagnosis.

• #29 How do I get diagnosed with Ehlers-Danlos Syndrome? | The EDS Clinic

  https://www.eds.clinic/articles/how-to-official-eds-diagnosis

  Theoretically, most medical doctors should be able to diagnose EDS and HSD, but in practice most do not feel comfortable giving a diagnosis of Ehlers-Danlos Syndrome. […] Primary care providers should be able to screen patients for EDS using the Beighton score criteria, which may help them refer patients for additional evaluations by a specialist. […] For most types of EDS, there are no simple, definitive tests. […] Diagnosis is therefore based on clinical evaluation and meeting specific criteria, which requires a thorough and often time-consuming assessment by a knowledgeable professional.

• #30

  https://www.annabelleschallenge.org/vascular-eds/eds-national-diagnostic-service

  The EDS National Diagnostic Service is a highly specialised service commissioned by NHS England for individuals and families who are suspected to have complex Ehlers-Danlos Syndrome (EDS). Established in 2009 the service runs two specialist clinics for patients based at Sheffield Northern General Hospital and the Northwick Park St Mark’s Hospitals in London. […] The service sees patients who are suspected of having a diagnosis of classical, vascular or a rare type of EDS. The service will also see patients with a known diagnosis of classical, vascular or a rare type of EDS. […] Patients with hypermobile EDS or Hypermobility Spectrum Disorder are not seen in this clinic. […] The clinic appointment will vary depending on whether we already know the diagnosis or whether we are meeting the person to hopefully make a diagnosis. All appointments are usually 30 to 60 minutes long with a Consultant and Genetic Counsellor.

• #31 Ehlers-Danlos syndromes

  https://www.nhs.uk/conditions/ehlers-danlos-syndromes/

  Currently, there are no tests to confirm whether someone has hEDS. The diagnosis is made based on a person’s medical history and a physical examination. […] If there’s a possibility you may have 1 of the rare types of EDS, the GP can refer you to your local genetics service for an assessment. The genetics specialist will ask about your medical history, family history, assess your symptoms and may carry out a genetic blood test to confirm the diagnosis. […] If further investigation is needed, your hospital doctor can refer you to a specialist EDS diagnostic service based in Sheffield or London see the Annabelle’s Challenge website for more information.

• #32 SPOTLIGHT ON EHLERS-DANLOS SYNDROME: SYMPTOMS, DIAGNOSIS, AND TREATMENT | Mya Care

  https://myacare.com/blog/spotlight-on-ehlersdanlos-syndrome-symptoms-diagnosis-and-treatment

  The diagnosis of EDS is based on a combination of physical examination, medical and family history, as well as genetic testing. […] The symptoms will usually indicate a connective tissue disorder and will be investigated individually to pinpoint the precise cause. During a physical exam, a specialist is likely to measure blood pressure and heart rate, check for joint hypermobility, as well as assess skin elasticity, fragility, scarring, bruising, and transparency. […] Joint hypermobility can be evaluated using the Beighton score or Beighton scale. This measures how far certain joints can bend or stretch. A score of 5 or more out of 9 indicates joint hypermobility. […] Genetic Testing is the most definitive investigation for Ehlers-Danlos syndrome that confirms an EDS diagnosis by identifying the specific gene mutation involved. This is not yet available or conclusive for hEDS, in which case, the diagnosis is based on clinical criteria and the exclusion of other possible causes.

• #33 Ehlers-Danlos syndrome | healthdirect

  https://www.healthdirect.gov.au/ehlers-danlos-syndrome

  Ehlers Danlos syndrome (EDS) are a group of 13 genetic conditions that affect the joints, skin and blood vessels. […] Genetic testing can be used to diagnose all types of EDS except for hEDS (hypermobile EDS) which is diagnosed based on your symptoms, physical examination and medical history. […] Your doctor will first assess you by: asking about your symptoms, asking about your personal and family medical history, doing a physical examination. […] You might be referred to a specialist doctor such as a Rheumatologist or a Geneticist. Some types of EDS (usually the rarer types) can be tested with genetic testing via a blood test. There is no gene testing available for the more common type (hypermobile EDS (hEDS)).

• #34 Ehlers-Danlos syndrome: how to diagnose and when to perform genetic tests – PubMed

  https://pubmed.ncbi.nlm.nih.gov/24994860/

  The term Ehlers-Danlos syndrome (EDS) encompasses a group of inherited connective tissue disorders. […] 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.

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