# Ehlers-Danlos Syndrome | Symptoms, Causes, Tests and Treatment | OSANG > EDS is classified into 13 subtypes, with hypermobility EDS (hEDS) being the most common. The prevalence is estimated to be approximately 1:5,000 to 1:20,000, but is unde… - Official page: https://osns.co.kr/en/encyclopedia/ehlers-danlos-syndrome - Organization: OSANG Neurosurgery ## Page content Neurological Conditions ## Ehlers-Danlos Syndrome Ehlers-Danlos Syndrome · Q79.6 Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders characterized by skin hyperextension, joint hypermobility, and tissue fragility due to genetic defects in collagen synthesis or structure. ## At a glance EDS is classified into 13 subtypes, with hypermobility EDS (hEDS) being the most common. The prevalence is estimated to be approximately 1:5,000 to 1:20,000, but is underestimated because diagnostic delays are common. A neurologically important point is that approximately 50-80% of EDS patients are accompanied by autonomic dysfunction, including postural orthostatic tachycardia syndrome (POTS). Chronic pain, fatigue, and digestive symptoms are also very common. - 01Definition and Overview - 02major subtypes - 03autonomic dysfunction - 04pain - 05diagnosis - 06EDS-POTS-MCAS triple disease - 07Treatment and Management ## Definition and Overview Ehlers-Danlos syndrome (EDS) is a group of connective tissue disorders caused by genetic defects in collagen and related proteins. According to the 2017 international classification, it is divided into 13 subtypes, each with different genetic bases and clinical manifestations. The prevalence of hypermobile EDS (hEDS), the most common subtype, is estimated to be approximately 1:5,000 to 1:20,000, but since it takes an average of 10 to 20 years to be diagnosed, the actual prevalence is estimated to be higher. ## major subtypes ### Hypermobility EDS (hEDS) It is the most common subtype, accounting for approximately 80-90% of all EDS. Joint hypermobility, chronic pain, fatigue, and autonomic dysfunction are the main characteristics. The causative gene has not yet been identified. ### Classic EDS (cEDS) It is caused by mutations in the COL5A1 or COL5A2 genes. Skin hyperextensibility and fragility are prominent, delayed wound healing, and extensive atrophic scars (cigarette paper scars) are characteristic. ### Vascular EDS (vEDS) It is the most serious subtype caused by COL3A1 gene mutation. There is a high risk of fatal complications such as artery rupture, intestinal perforation, and uterine rupture. With the median life expectancy being approximately 50 years, regular vascular monitoring is essential. ## autonomic dysfunction ### Association between EDS and autonomic dysfunction In EDS patients, especially hEDS, autonomic dysfunction occurs at a very high frequency. In a study by De Wandele et al., autonomic dysfunction was identified in approximately 78% of hEDS patients. ### Postural orthostatic tachycardia syndrome (POTS) It is the most common autonomic disorder in patients with EDS. Due to connective tissue abnormalities, venous elasticity is reduced, causing excessive blood retention in the lower extremities when standing, and sympathetic overactivity to compensate for this causes tachycardia. Symptoms include dizziness, palpitations, general weakness, and presyncope when standing, and the diagnostic standard is an increase in heart rate of more than 30 bpm (or more than 120 bpm) within 10 minutes of standing. ### Orthostatic hypotension Some EDS patients are accompanied by orthostatic hypotension, and the frequency of neurally mediated syncope (vasovagal syncope) is also high. ### Gastrointestinal autonomic dysfunction Gastroparesis, decreased intestinal motility, and functional constipation are common, and may also show signs of irritable bowel syndrome (IBS). This is the result of a combination of abnormalities in the connective tissue of the intestinal wall and dysregulation of the autonomic nervous system. ## pain ### Mechanisms of Chronic Pain Chronic pain in EDS involves a combination of repetitive micro-damage caused by joint instability, muscle spasms, central sensitization, and neuropathy. More than 90% of hEDS patients complain of chronic pain, and many are diagnosed with fibromyalgia. ### pain management - Physical therapy: Joint stabilization and strengthening of deep muscles are most important. Exercise without moving beyond the safe joint range. - Medication: Neuropathy pain medications, including NSAIDs (short-term), duloxetine, and gabapentin. - Non-drug treatment: aquatic exercise, cognitive behavioral therapy (CBT), TENS ## diagnosis ### hEDS diagnostic criteria (2017) According to the 2017 international standards, all three of the following must be met: 1. Generalized joint hypermobility: Beighton score ≥ 5 (adults), ≥ 6 (children/adolescents) 2. Two or more of the following: (A) five or more systemic connective tissue abnormalities, (B) diagnosis of hEDS in a first-degree relative, (C) musculoskeletal complications (chronic pain, recurrent joint dislocations/subluxations) 3. Rule out other connective tissue diseases ### Beighton Score It is a joint hypermobility evaluation tool with a 9-point score. - 5th metacarpophalangeal joints on both sides dorsiflexed more than 90° (2 points) - Touch both thumbs to the flexors of the forearm (2 points) - Bilateral elbow hyperextension of more than 10° (2 points) - Bilateral knee hyperextension of more than 10° (2 points) - Touch both palms to the floor (forward bend with knees straight) (1 point) ## EDS-POTS-MCAS triple disease The “trifecta” of EDS, POTS, and mast cell activation syndrome (MCAS) simultaneously is frequently observed clinically. Although the common mechanism of the three diseases has not been fully elucidated, it is assumed that connective tissue abnormalities simultaneously affect vascular elasticity, mast cell stability, and autonomic nervous system regulation. ## Treatment and Management ### Multidisciplinary approach EDS is difficult to manage with a single treatment, and requires collaboration with neurology, rehabilitation medicine, rheumatology, gastroenterology, cardiology, genetic medicine, and pain medicine. ### joint protection Joint protection education, use of braces, and avoidance of high-impact exercises are important in preventing subluxation and pain. ### Management of autonomic symptoms For POTS, increased fluid and salt intake, compression stockings, and a progressive aerobic exercise program are the first-line treatments. If necessary, use midodrine, fludrocortisone, or ivabradine. ### genetic counseling For subtypes whose genes have been identified, such as vEDS, genetic counseling is essential, and family screening is recommended. ## Frequently asked questions ### Q01What are the symptoms of Ehlers-Danlos Syndrome? The joints are abnormally flexible and frequently fall out (subluxation), or the skin is very soft and stretchy and bruises easily. Chronic joint pain and muscle pain are very common, and are often accompanied by chronic fatigue, digestive disorders (abdominal pain, constipation, postprandial bloating), and autonomic symptoms (dizziness when standing up, tachycardia). ### Q02Why do patients with EDS often have POTS? Due to an abnormality in the connective tissue, the blood vessel walls become excessively compliant, causing excessive blood to accumulate in the lower extremities when standing. To compensate for this, the sympathetic nerve becomes overactive and tachycardia occurs. It is reported that approximately 50-80% of EDS patients meet the criteria for POTS. ### Q03How is EDS diagnosed? It is diagnosed clinically according to the 2017 international diagnostic criteria. Hypermobility EDS (hEDS) is determined based on the Beighton score (5 or more out of 9), findings of systemic connective tissue abnormalities, family history, and musculoskeletal complications. Some subtypes, such as vascular EDS, are confirmed through genetic testing. ### Q04Is EDS treatable? There is no fundamental treatment, and symptom management and prevention of complications are the key to treatment. Joint stabilization and muscle strengthening through physical therapy are most important, and pain management, treatment of autonomic symptoms, and management of digestive symptoms are approached in a multidisciplinary manner. Joint protection education is essential to prevent subluxation. ### Q05Is EDS inherited? Most EDS subtypes are inherited autosomal dominantly, so if one parent is affected, there is a 50% chance of passing it on to their children. However, the gene for hEDS has not yet been identified, and in some cases, it occurs without a family history. ## Related articles - delirium - Cervical radiculopathy - Cervical disc herniation - dystonia This article provides general medical information and does not replace an individual diagnosis or treatment plan. Please seek a medical assessment if symptoms persist. ## Important notice This Markdown alternative helps search and AI tools understand the public page accurately. It provides general health information and does not replace an individual diagnosis or treatment.