In high school and college your hyperflexibility was remarkable. The splits and advanced yoga postures were executed without difficulty or significant stretching. Then pain and joint instability became an issue limiting your activity. Your orthopedic specialist told you everything is fine and you simply suffered a sprain. Your PT thinks your may have a problem with your connective tissue. What is Ehlers-Danlos Syndrome? What are the common causes of Ehlers-Danlos Syndrome? Are there different types of Ehlers-Danlos Syndrome? What are the common symptoms? How is Ehlers-Danlos Syndrome diagnosed? What is the prevalence? What are the common treatment options for Ehlers-Danlos Syndrome? Are there new advanced treatment options? What areas can be treated with Regenerative injections? Is managing joint pain and instability caused by EDS possible? Let’s dig in.
Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome is a group of disorders that affect and weaken your connective tissue. Connective tissue exists in every part of your body. It provides support and structure to tissues and organs including bone, ligaments, tendons, blood vessels, and lymphatic vessels.
What Is Ehlers-Danlos Syndrome? (Connective Tissue Disease)
Ehlers Danlos Syndrome (EDS) is a group of inherited disorders that affect and weaken the connective tissues such as tendons and ligaments (1). It is a hereditary disorder which means you are born with it. EDS has many different signs and symptoms which can vary significantly depending upon the type of EDS and its severity. It most commonly affects the skin, joints, and blood vessels. Joints are typically hypermobile with excessive joint range of motion because of a defect in collagen formation.
Common Causes of Ehlers-Danlos Syndrome? (Inherited)
In most cases Ehlers-Danlos syndrome is inherited. That is to say that you are born with it. The two main ways EDS is inherited are:
Autosomal dominant inheritance: The faulty gene that causes EDS is passed on by 1 parent.
Autosomal recessive inheritance: The faulty gene is inherited from both parents.
All the genes listed below provide instruction on how to assemble collagen. Collagen is an important protein that serves as a major building block for bones, skin, muscles, tendons and ligaments. In patients with Ehlers-Danlos Syndrome there is defect in how the body makes collagen. The most common genes that cause EDS include:
- COL1A1
- COL1A2
- COL3A1
- COL5A1
- COL6A2
- PLOD1
- TNXB
Are There Different Types of EDS?
Yes! There are 13 major types of Ehlers-Danlos syndromes (2). Each type has a set of clinical criteria to help establish a diagnosis. Each type of Ehlers-Danlos Syndrome affects different areas of the body. All types of EDS however have one thing in common: hypermobility. Often there is significant symptom overlap between the EDS subtypes and other connective tissue disorders.
The three most common types of EDS are:
Hypermobile
Hypermobile EDS ( hEDS) is the most common form of EDS.
Classic
Classic is the second most common type of EDS. Previously it was also called EDS Type I & II.
Vascular
Vascular EDS is quite rare and is the most severe type of EDS. Vascular EDS is much different from Hypermobile and Classic EDS. In addition to loose joints, and translucent skin these patients are at risk for life-threatening rupture of the intestine, uterus, and arteries
The other types of EDS syndromes are:
- Cardiac-valvular EDS
- Kyphoscoliosis EDS
- Arthrochalasia EDS
- Dermatosparaxis EDS
- Musculocontractural EDS
- Myopathic EDS
- Periodontal EDS
- Brittle Cornea Syndrome (BCS)
- Spondylodysplastic E
Ehlers-Danlos Syndrome Symptoms And Clinical Presentations
EDS symptoms vary depending upon the specific type and its severity. There is significant clinical overlap between EDS types. The following is a general overview of the three most common EDS types and symptoms.
Hypermobile Ehlers-Danlos Syndrome
Patients with Hypermobile EDS may have:
- Joint hypermobility
- Unstable or loose joints that easily dislocate
- Fatigue
- Skin that is easy to bruise
- Digestive problems that include heartburn and constipation
- Problems with bladder control
Classical Ehlers-Danlos Syndrome
Patients with Classical EDS may have:
- Joint hypermobility
- Unstable or loose joint that easily dislocate
- Stretchy skin
- Fragile skin prone to injury
- Smooth, velvety skin that bruises easily
- Wounds that are slow to heal and leave wide scars.
Vascular Ehlers-Danlos Syndrome
Patients with this rare type of EDS can have involvement of the blood vessels and internal organs. They are susceptible to life threatening bleeding. Other symptoms include:
- Skin that is easy to bruise
- Thin skin with visible small blood vessels
- Fragile blood vessels that are prone to damage with bleeding
- Joint hypermobility
- Organs at risk for tearing (uterus and lung)
Diagnosing EDS
Establishing a diagnosis of Ehlers-Danlos Syndrome starts with a full history and physical examination. While your PCP may start the process, a referral to Rheumatologist or another specialist is common. During the physical examination both the skin and joints are examined in detail. How far the skin is able to be stretched ( hyperextensibility) is important as is the flexibility of the joints. A Beighton score is often times utilized. It is a simple system of maneuvers that quantifies joint laxity and hypermobility (3). It uses a 9-point system where the higher the score the higher the laxity. Other testing may include:
- Collagen Typing
- Genetic Testing
- MRI
- CT (Computerized Tomography)
- Ultrasound of the Heart (Echocardiogram)
- Urine Analysis
- Skin Biopsy
The Prevalence of EDS
The estimated prevalence for all EDS varies between 1/10,000 and 1/25,000 (5). Hypermobile EDS is more common than previously reported (6)
Common EDS Treatment Options
Specific treatment will depend upon the specific type of the EDS and its severity. EDS is not curable but certainly treatable. When appropriate conservative therapy should always be the first option. Treatment options include (4):
Physical Therapy
PT can provide specific exercises and workouts that focus on joint strength. The stability of a given joint is dependent upon muscle strength and ligament integrity. In patients with EDS muscular strengthening can enhance joint stability thereby limiting dislocations, injuries and pain.
Bracing
External bracing is often times utilized in an effort to provide stability when muscle strength and ligamental stability are compromised. The goal is to stabilize the joint so as to prevent injuries, pain and dysfunction. Examples include knee and ankle braces. In more advanced cases wheelchairs and scooters may be necessary.
Surgical Procedures
Surgery may be necessary when life threatening conditions occur such as organ rupture, uncontrolled bleeding and retinal detachment occurs.
Regenexx Procedures
Regenexx is a highly specialized, research-based group of nonsurgical procedures that use PRP and Mone Marrow Concentrate to treat common orthopedic conditions. Bone Marrow Concentrate contains stem cells. This will be discussed in detail below.
There’s A Non-Invasive Way To Manage Pain
There are several ways to manage the pain depending upon the source and its severity. When conservative care in the form of PT, OT and Chiropractic care fail, there are other available options which include
Medications
Good quality fish oil and Tumeric can address the pain and inflammation. NSAIDs should be avoided due to associated risks and negative impact on cartilage and stem cell function. Oral steroids should also be avoided as they can adversely affect ligament stability.
Injections
Not all injections are the same. Steroid injections should be avoided in patients with EDS as they can weaken the already compromised ligaments. They can make the joint hypermobility and and dysfunction worse.
At the Centeno-Schultz Clinic we are experts in the treatment of ligament injuries. Treatment options include the following:
Prolotherapy
Prolotherapy, also known as proliferation therapy, involves the injection of an irritant such as dextrose into a damaged or weakened structure. This is typically ligaments. The injected irritant initiates the body’s innate healing process by increasing inflammation. The increased inflammation triggers the body to send healing cells, platelets and specialized proteins to the area. The intended result is the body’s healing and strengthening of the injected structures.
PRP
PRP stands for Platelet Rich Plasma. Platelets are cells within our blood that are responsible for clotting. They are also rich in growth factors which can increase blood flow in a given area thereby promoting healing. PRP can be made in a lab or by a bedside automated centrifuge. Blood is drawn from a patient’s arm and processed in the lab or automated centrifuge. Certain fractions of the blood are removed allowing the platelets to be super concentrated. At the Centeno-Schultz Clinic we have a state of the art laboratory that allows us to customize the PRP dose to a specific patient’s need. Think of growth factors like espresso shots for local repair cells. They stimulate other cells to do more work and can even call the needed repair cells to the area.
Bone Marrow Concentrate
Bone Marrow Concentrate contains your own stem cells. It is an Autologous procedure because the bone marrow comes from you. In contrast Allogenic means bone marrow from a person other than the patient. Bone marrow is commonly taken from your iliac crest (hip) using a needle to remove the bone marrow. The procedure is performed under x-ray or ultrasound guidance. Local anesthetic is injected into the skin and deeper structures prior to the aspiration. The bone marrow aspirate is then placed into a centrifuge where the cells are separated.
What Areas Can be Treated with Regenerative Injections?
At the Centeno-Schultz Clinic we acknowledge the complexity of the human body and recognize that for best clinical outcomes it is best to view and treat the body as a whole. This concept is referred to as Functional Spinal Unit (FSU). To learn more about this approach please click here.
The list of areas that can treated in patients with EDS is extensive. The most common include:
Cervical, Thoracic and Lumbar Spine: Supraspinous, Interspinous and Thoracolumbar fascia
Upper Cervical Ligaments: Alar and Transverse ligaments
Sacroiliac Joints and Ligaments
Knees and important ligaments that include ACL, PCL, MCL and LCL
Hips and supporting capsule and ligaments
Shoulders: Superior, middle and inferior Glenohumeral ligaments
Ankles: Deltoid, Anterior Talofibular and Calcanofibular ligaments.
The Centeno-Schultz Clinic are experts in the treatment of patients with EDS and hypermobility. We have pioneered the following procedures to address important ligament injuries.
Knees
Non surgical treatment of Anterior Cruciate Ligament tears in the Knee utilizing both PRP and Bone Marrow Concentrate. To learn more please watch video below.
Upper Cervical Ligaments
Important ligaments connect your head to your cervical spine. The two most important are the Alar and Transverse ligaments. Patients with Ehlers-Danlos Syndrome can injure or stretch these ligaments giving rise to a number of symptoms that often times are poorly understood and recognized. The condition is called Craniocervical Instability and has been discussed in prior blogs. To learn more about this revolutionary non surgical treatment option please click on the video below.
Managing Pain Brought On By Ehlers-Danlos Syndrome Is Possible!
Ehlers-Danlos Syndrome can be associated with joint instability, pain and dysfunction. When conservative care fails to provide significant clinical improvement, the good news is that there are new advanced treatment options. Injured, stretched or partially torn ligaments and tendons can be precisely injected under MSK ultrasound with Prolotherapy, PRP or Bone Marrow Concentrate. Injections without guidance also known as blind injections are below the standard of care at the Centeno-Schultz Clinic and often miss the targeted tissue and fail to provide patients with the best clinical outcomes.
In Conclusion
- Ehlers-Danlos Syndrome (EDS) is a group of inherited disorders that affect and weaken the connective tissue such as tendons and ligaments.
- Most cases of EDS are inherited.
- There are 13 major types of EDS.
- The three most common types of EDS are Hypermobile, Classic and Vascular.
- Symptoms and clinical presentations vary depending upon the specific type and severity.
- Diagnosing Ehlers-Danlos Syndrome involves history and physical examination. A specialist is often times used to confirm the diagnosis. Testing may include collagen testing, genetic testing, MRI, CT, Echocardiogram, urine analysis and skin biopsy.
- Common treatment options include physical therapy, bracing and medications. Life threatening conditions can warrant surgery.
- Precise injections of Prolotherapy, PRP or Bone Marrow Concentrate can potentially accelerate healing and enhance stability of hypermobile joints.
- Areas that can be treated include the cervical, thoracic, and lumbar spine, upper cervical ligaments, sacroiliac joints, knees, hips, shoulders and ankles.
If you or a loved one suffers from Ehlers-Danlos Syndrome and have persistent joint pain and limitations despite conservative care, please schedule a telephone candidacy discussion with a board-certified, fellowship-trained physician. We can help you live comfortably with your Ehlers-Danlos condition. Learn about our advanced regenerative procedures that can improve your qaulity of life and get you back in the game.
—————————————————————————————————————————————————————————–
1.Chopra P, Tinkle B, Hamonet C, et al. Pain management in the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017;175(1):212-9.DOI: 10.1002/ajmg.c.31554
2.Malfait F, Castori M, Francomano CA, Giunta C, Kosho T, Byers PH. The Ehlers-Danlos syndromes. Nat Rev Dis Primers. 2020 Jul 30;6(1):64. doi: 10.1038/s41572-020-0194-9. PMID: 32732924.
3.Smits-Engelsman B, Klerks M, Kirby A. Beighton score: a valid measure for generalized hypermobility in children. J Pediatr. 2011 Jan;158(1):119-23, 123.e1-4. doi: 10.1016/j.jpeds.2010.07.021. Epub 2010 Sep 17. PMID: 20850761.
4.Song B, Yeh P, Nguyen D, Ikpeama U, Epstein M, Harrell J. Ehlers-Danlos Syndrome: An Analysis of the Current Treatment Options. Pain Physician. 2020 Jul;23(4):429-438. PMID: 32709178.
5.Germain DP. Ehlers-Danlos syndrome type IV. Orphanet J Rare Dis. 2007 Jul 19;2:32. doi: 10.1186/1750-1172-2-32. PMID: 17640391; PMCID: PMC1971255.
6.Demmler JC, Atkinson MD, Reinhold EJ, Choy E, Lyons RA, Brophy ST. Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case-control comparison. BMJ Open. 2019;9(11):e031365. Published 2019 Nov 4. doi:10.1136/bmjopen-2019-031365
Ehlers-Danlos Syndrome
In high school and college, your hyperflexibility was remarkable. The splits and advanced yoga postures were executed without difficulty or significant stretching. Then pain and joint instability became an issue limiting your activity. Your orthopedic specialist told you everything is fine and you simply suffered a sprain. Your PT thinks your may have a problem with your connective tissue. What is Ehlers-Danlose Syndrome? What are the common causes of Ehlers-Danlos Syndrome? Are there different types of Ehlers-Danlos Syndrome? What are the common symptoms? How is Ehlers-Danlos Syndrome diagnosed? What is the prevalence? What are the common treatment options for Ehlers-Danlos Syndrome? Are there new advanced treatment options? What areas can be treated with Regenerative injections? Is managing joint pain and instability caused by EDS possible? Let’s dig in.
Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome is a group of disorders thata affect and weaken your connective tissue. Connective tissue is exists in every part of your body. It provides support and structure to tissues and organs including bone, ligaments, tendons, blood vessels, and lymphatic vessels.
What is Ehlers-Danlos Syndrome? (Connective Tissue Disease)
Ehlers Danlos Syndrome (EDS) is a group of inherited disorders that affect and weaken the connective tissues such as tendons and ligaments (1). It is a hereditary disorder which means you are born with it. EDS has many different signs and symptoms which can vary significantly depending upon the type of EDS and its severity. It most commonly affects the skin, joints, and blood vessels. Joints are typically hypermobile with excessive joint range of motion because of a defect in collagen formation
Common Causes of Ehlers-Danlos Syndrome? (Inherited)
In most cases Ehlers-Danlos syndrome is inherited. That is to say that you are born with it. The two main ways EDS is inherited are:
Autosomal dominant inheritance: the faulty gene that causes EDS is passed on by 1 parent.
Autosomal recessive inheritance: the faulty gene is inherited from both parents.
All the genes listed below provide instruction on how to assemble collagen. Collagen is an important protein that is a serves as a major building block for bones, skin, muscles, tendons and ligaments. In patients with Ehlers-Danlos Syndrome there is defect in how the body makes collagen. The most common genes that cause EDS include:
- COL1A1
- COL1A2
- COL3A1
- COL5A1
- COL6A2
- PLOD1
- TNXB
Are There Different Types of EDS? (Hypermobile, Classic, Vascular)
Yes! There are 13 major types of Ehlers-Danlos syndromes (2). Each type has a set of clinical criteria to help establish a diagnosis. Each type of Ehlers-Danlos Syndrome affects different areas of the body. All types of EDS however have one thing in common: hypermobility. Often there is signficant symptom overlap between the EDS subtypes and other connective tissue disorders.
The three most common types of EDS are:
Hypermobile
Hypermobile EDS ( hEDS) is the most common form of EDS.
Classic
Classic is the second most common type of EDS. Previously is was also called EDS Type I & II.
Vascular
Vascular EDS is quite rare and is the most severe type of EDS. Vascular EDS is much different from Hypermobile and Classic EDS. In addition to loose joints, and translucent skin these patients are a risk for life-threatening rupture of the intestine, uterus, and arteries
The other types of EDS syndromes are:
- Cardiac-valvular EDS
- Kyphoscoliosis EDS
- Arthrochalasia EDS
- Dermatosparaxis EDS
- Musculocontractural EDS
- Myopathic EDS
- Periodontal EDS
- Brittle Cornea Syndrome (BCS)
- Spondylodysplastic E
Ehlers-Danlos Syndrome Symptoms And Clinical Presentations
EDS symptoms vary depending upon the specific type and its severity. There is signficant clinical overlap between EDS types. The following is a general overview of the three most common EDS types and symptoms.
Hypermobile Ehlers-Danlos Syndrome
Patients with Hypermobile EDS may have:
- Joint hypermobility
- Unstable or loose joints that easily dislocate
- Fatigue
- Skin that is easy to Bruise
- Digestive problems that include heartburn and constipation
- Problems with bladder control
Classical Ehlers-Danlos Syndrome
Patients with Classical EDS may have:
- Joint hypermobility
- Unstable or loose joint that easily dislocate
- Stretchy skin
- Fragile skin prone to injury
- Smooth, velvety skin that bruises easily
- Wounds that are slow to heal and leave wide scars.
Vascular Ehlers-Danlos Syndrome
Patients with this rare type of EDS can have involvement of the blood vessels and internal organs. They are susceptible to life threatening bleeding. Other symptoms include:
- Skin that is easy to Bruise
- Thin skin with visible small blood vessel
- Fragile blood vessel that are prone to damage with bleeding
- Joint hypermobility
- Organs at risk for tearing ( uterus and lung)
Diagnosing EDS
Establishing a diagnosis of Ehlers-Danlos Syndrome starts with a fully history and physical examination. While your PCP may start the process, a referral to Rheumatologist or other specialist is common. During the physical examination both the skin and joints are examined in detail. How far the skin is able to be stretched ( hyperextensibility) is important as is the flexibility of the joints. A Beighton score is often times utilized. It is a simple system of maneuvers that quantifies joint laxity and hypermobility (3). It uses a 9 point system where the higher the score the higher the laxity. Other testing may include
- Collagen Typing
- Genetic Testing
- MRI
- CT (Computerized Tomography)
- Ultrasound of the Heart (Echocardigram)
- Urine Analysis
- Skin Biopsy
The Prevalence of EDS
The estimated prevalence for all EDS varies between 1/10,000 and 1/25,000 (5). Hypermobile EDS is more common than previously reported (6)
Common EDS Treatment Options
Specific treatment will depend upon the specific type of the EDS and its severity. EDS is not curable but certainly treatable. When appropriate conservative therapy should always be the first option. Treatment options include (4):
Physical Therapy
PT can provide specific exercises and workouts that focus on joint strength. The stability of a given joint is dependent upon muscle strength and ligament integreity. In patients with EDS muscular strengthening can enhance joint stability thereby limiting dislocations, injuries and pain.
Bracing
External bracing is often times utilized in an effort to provide stability when muscle strength and ligamental stability is compromised. The goal is to stabilize the joint so as to prevent injuries, pain and dysfunction. Examples include knee and ankle braces. In more advanced cases wheelchairs and scooters may be necessary.
Surgical Procedures
Surgery may be necessary when life threatening conditions occur such as organ rupture, uncontrolled bleeding and retinal detachment occurs.
Regenexx Procedures
Regenexx is a highly specialized, research based group of nonsurgical procedures that uses PRP and bone marrow concentrate to treat common orthopedic conditions. Bone marrow concentrate contains stem cells. This will be discussed in detail below.
There’s A Non-Invasive Way To Manage Pain (Precise Injections)
There are several ways to manage the pain depending upon the source and its severity. When conservative care in the form of PT, OT and chiropractic care fail, there are other available options which include
Medications
Good quality fish oil and Tumeric can address the pain and inflammation. NSAID should be avoided due to associated risks and negative impact on cartilage and stem cell function. Oral steroids should also be avoided as they can adversely affect ligament stability.
Injections
Not all injections are the same. Steroid injections should be avoided in patients with EDS as they can weaken the already compromised ligaments. They can make the joint hypermobility and and dysfunction worse.
At the Centeno-Schultz Clinic we are experts in the treatment of ligament injuries. Treatment options include the following:
Prolotherapy
Prolotherapy, also known as proliferation therapy, involves the injection of an irritant such as dextrose into a damaged or weaken structure. This is typically ligaments. The injected irritant initates the body’s innate healing process by increasing inflammation. The increased inflammation triggers the body to send healing cells, platelets and specialized proteins to the area. The intended result is healing and strengthening of the injected structures.
PRP
PRP stands for platelet rich plasma. Platelets are cells within our blood that are responsible for clotting. They are also rich in growth factors which can increase blood flow in a given area thereby promoting healing. PRP can be made in a lab or by a bedside aumated centrifuge. Blood is drawn from a patient’s arm and processed in the lab or automated centrifuge. Certain fraction of the blood are removed allowing the platelets to be superconcentrated. At the Centeno-Schultz Clinic we have a state of the art laboratory that allows us to customize the PRP dose to a specific patient’s need. Think of growth factors like shots for local repair cells. They stimulate other cells to do more work and can even call teh needed repair cells to the area.
Bone Marrow Concentrate
Bone marrow aspirate concentrate procedure is a stem cell treatment using autologous bone marrow-derived cells. Autologous means the bone marrow comes from yourself. In contrast Allogenic means bone marrow from a person other than the patient. Bone marrow is commonly taken from your iliac crest (hip) using a needle to remove the bone marrow. The procedure is performed under x-ray or ultrasound guidance. Local anesthetic is injected into the skin and deeper structures prior to the aspiration. The bone marrow aspirate is the placed into a centrifuge where the cells are separated.
What Areas that Can be Treated with Regenerative Injections?
At the Centeno-Schultz Clinic we acknowledge the complexity of the human body and recognize that for best clinical outcomes it is best to view and treat the body as a whole. This concept is referred to as Functional Spinal Unit (FSU). To learn more about this approach please click here.
The list of areas that can treated in patients with EDS is extensive. The most common include:
Cervical, Thoracic and Lumbar Spine: supraspinous, interspinous and thoracolumbar fascia
Upper Cervical Ligaments: Alar and transverse ligaments
Sacroiliac Joints and Ligaments
Knees and important ligaments that include ACL, PCL, MCL and LCL
Hips and supporting capsule and ligaments
Shoulders: Superior, middle and inferior glenohumeral ligaments
Ankles: deltoid, anterior talofibular and calcanofibular ligaments.
The Centeno-Schultz Clinic are experts in the treatment of patients with EDS and hypermobility. We have pioneered the following procedure to address important ligament injuries.
Knees
Non surgical treatment of Anterior Cruciate Ligament tears in the Knee utilizing both PRP and bone marrow concentrate. To learn more please watch video below.
Upper Cervical Ligaments
Important ligaments connect your head to your cervical spine. The two most important are the alar and transverse ligament. Patients with Ehlers-Danlos Syndrome can injure or stretch these ligaments giving rise to a number of symptoms that often times are poorly understood and recognized. The condition is called Craniocervical Instability and has been discussed in prior blogs. To learn more about this revolutionary non surgical treatment option please click on the video below.
Managing Pain Brought On By Ehlers-Danlos Syndrome Is Possible!
Ehlers-Danlos Syndrome can be associated with joint instability, pain and dysfunction. When conservative care fails to provide signficant clinical improvement the good news is that there are new advanced treatment options. Injured, stretched or partially torn ligaments and tendons can be precisely injected under MSK ultrasound with prolotherapy, PRP or bone marrow concentrate. Injections without guidance also known as blind injections are below the standard of care at the Centeno-Schultz Clinic and often times miss the targeted tissue and fail to provide patients with the best clinical outcomes.
In Conclusion
- Ehlers-Danlos Syndrome (EDS) is a group of inherited disorders that affect and weaken the connective tissue such as tendons and ligaments.
- Most cases of EDS are inherited.
- There are 13 major types of EDS.
- The three most common types of EDS are Hypermobile, Classic and Vascular.
- Symptoms and clincal presentation vary depending upon the specific type and severity.
- Diagnosing Ehlers-Danlos Syndrome involves history and physical examination. A specialist is often times used to confirm the diagnosis. Testing may include collagen testing, genetic testing, MRI, CT, Echocardiogram, urine analysis and skin biopsy.
- Common treatment options include physical therapy, bracing and medications. Life threatening conditions can warrant surgery.
- Precise injections of prolotherapy, PRP or bone marrow concentrate can potentially accelerate healing and enhance stability of hypermobile joints.
- Areas that can be treated include the cervical, thoracic and lumbar spine, upper cervical ligaments, sacroiliac joints, knees, hips, shoulders and ankles.
If you or a loved one suffers from Ehlers-Danlos Syndrome and have persistent joint pain and limitations despite conservative care, please schedule a telephone candidacy discussion with a board-certified, fellowship-trained physician. We can help you live comfortably with your Ehlers-Danlos condition. Learn about our advanced regenerative procedures that can improve your qaulity of life and get you back in the game.
—————————————————————————————————————————————————————————–
1.Chopra P, Tinkle B, Hamonet C, et al. Pain management in the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017;175(1):212-9.DOI: 10.1002/ajmg.c.31554
2.Malfait F, Castori M, Francomano CA, Giunta C, Kosho T, Byers PH. The Ehlers-Danlos syndromes. Nat Rev Dis Primers. 2020 Jul 30;6(1):64. doi: 10.1038/s41572-020-0194-9. PMID: 32732924.
3.Smits-Engelsman B, Klerks M, Kirby A. Beighton score: a valid measure for generalized hypermobility in children. J Pediatr. 2011 Jan;158(1):119-23, 123.e1-4. doi: 10.1016/j.jpeds.2010.07.021. Epub 2010 Sep 17. PMID: 20850761.
4.Song B, Yeh P, Nguyen D, Ikpeama U, Epstein M, Harrell J. Ehlers-Danlos Syndrome: An Analysis of the Current Treatment Options. Pain Physician. 2020 Jul;23(4):429-438. PMID: 32709178.
5.Germain DP. Ehlers-Danlos syndrome type IV. Orphanet J Rare Dis. 2007 Jul 19;2:32. doi: 10.1186/1750-1172-2-32. PMID: 17640391; PMCID: PMC1971255.
6.Demmler JC, Atkinson MD, Reinhold EJ, Choy E, Lyons RA, Brophy ST. Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case-control comparison. BMJ Open. 2019;9(11):e031365. Published 2019 Nov 4. doi:10.1136/bmjopen-2019-031365
https://docs.google.com/document/d/1-om7dviQhG9LCn1B_mJbXRDkhtPKzhI8-yKWbPjSxyc/edit
Ehlers-Danlos Syndrome
In high school and college your hyperflexibility was remarkable. The splits and advanced yoga postures were executed without difficulty or signficant stretching. Then pain and joint instability became an issue limiting your activity. Your orthopedic specialist told you everything is fine and you simply suffered a sprain. Your PT thinks your may have a problem with your connective tissue. What is Ehlers-Danlose Syndrome? What are the common causes of Ehlers-Danlos Syndrome? Are there different types of Ehlers-Danlos Syndrome? What are the common symptoms? How is Ehlers-Danlos Syndrome diagnosed? What is the prevalence? What are the common treatment options for Ehlers-Danlos Syndrome? Are there new advanced treatment options? What areas can be treated with Regenerative injections? Is managing joint pain and instability caused by EDS possible? Let’s dig in.
Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome is a group of disorders thata affect and weaken your connective tissue. Connective tissue is exists in every part of your body. It provides support and structure to tissues and organs including bone, ligaments, tendons, blood vessels, and lymphatic vessels.
What is Ehlers-Danlos Syndrome? (Connective Tissue Disease)
Ehlers Danlos Syndrome (EDS) is a group of inherited disorders that affect and weaken the connective tissues such as tendons and ligaments (1). It is a hereditary disorder which means you are born with it. EDS has many different signs and symptoms which can vary significantly depending upon the type of EDS and its severity. It most commonly affects the skin, joints, and blood vessels. Joints are typically hypermobile with excessive joint range of motion because of a defect in collagen formation
Common Causes of Ehlers-Danlos Syndrome? (Inherited)
In most cases Ehlers-Danlos syndrome is inherited. That is to say that you are born with it. The two main ways EDS is inherited are:
Autosomal dominant inheritance: the faulty gene that causes EDS is passed on by 1 parent.
Autosomal recessive inheritance: the faulty gene is inherited from both parents.
All the genes listed below provide instruction on how to assemble collagen. Collagen is an important protein that is a serves as a major building block for bones, skin, muscles, tendons and ligaments. In patients with Ehlers-Danlos Syndrome there is defect in how the body makes collagen. The most common genes that cause EDS include:
- COL1A1
- COL1A2
- COL3A1
- COL5A1
- COL6A2
- PLOD1
- TNXB
Are There Different Types of EDS? (Hypermobile, Classic, Vascular)
Yes! There are 13 major types of Ehlers-Danlos syndromes (2). Each type has a set of clinical criteria to help establish a diagnosis. Each type of Ehlers-Danlos Syndrome affects different areas of the body. All types of EDS however have one thing in common: hypermobility. Often there is signficant symptom overlap between the EDS subtypes and other connective tissue disorders.
The three most common types of EDS are:
Hypermobile
Hypermobile EDS ( hEDS) is the most common form of EDS.
Classic
Classic is the second most common type of EDS. Previously is was also called EDS Type I & II.
Vascular
Vascular EDS is quite rare and is the most severe type of EDS. Vascular EDS is much different from Hypermobile and Classic EDS. In addition to loose joints, and translucent skin these patients are a risk for life-threatening rupture of the intestine, uterus, and arteries
The other types of EDS syndromes are:
- Cardiac-valvular EDS
- Kyphoscoliosis EDS
- Arthrochalasia EDS
- Dermatosparaxis EDS
- Musculocontractural EDS
- Myopathic EDS
- Periodontal EDS
- Brittle Cornea Syndrome (BCS)
- Spondylodysplastic E
Ehlers-Danlos Syndrome Symptoms And Clinical Presentations
EDS symptoms vary depending upon the specific type and its severity. There is signficant clinical overlap between EDS types. The following is a general overview of the three most common EDS types and symptoms.
Hypermobile Ehlers-Danlos Syndrome
Patients with Hypermobile EDS may have:
- Joint hypermobility
- Unstable or loose joints that easily dislocate
- Fatigue
- Skin that is easy to Bruise
- Digestive problems that include heartburn and constipation
- Problems with bladder control
Classical Ehlers-Danlos Syndrome
Patients with Classical EDS may have:
- Joint hypermobility
- Unstable or loose joint that easily dislocate
- Stretchy skin
- Fragile skin prone to injury
- Smooth, velvety skin that bruises easily
- Wounds that are slow to heal and leave wide scars.
Vascular Ehlers-Danlos Syndrome
Patients with this rare type of EDS can have involvement of the blood vessels and internal organs. They are susceptible to life threatening bleeding. Other symptoms include:
- Skin that is easy to Bruise
- Thin skin with visible small blood vessel
- Fragile blood vessel that are prone to damage with bleeding
- Joint hypermobility
- Organs at risk for tearing ( uterus and lung)
Diagnosing EDS
Establishing a diagnosis of Ehlers-Danlos Syndrome starts with a fully history and physical examination. While your PCP may start the process, a referral to Rheumatologist or other specialist is common. During the physical examination both the skin and joints are examined in detail. How far the skin is able to be stretched ( hyperextensibility) is important as is the flexibility of the joints. A Beighton score is often times utilized. It is a simple system of maneuvers that quantifies joint laxity and hypermobility (3). It uses a 9 point system where the higher the score the higher the laxity. Other testing may include
- Collagen Typing
- Genetic Testing
- MRI
- CT (Computerized Tomography)
- Ultrasound of the Heart (Echocardigram)
- Urine Analysis
- Skin Biopsy
The Prevalence of EDS
The estimated prevalence for all EDS varies between 1/10,000 and 1/25,000 (5). Hypermobile EDS is more common than previously reported (6)
Common EDS Treatment Options
Specific treatment will depend upon the specific type of the EDS and its severity. EDS is not curable but certainly treatable. When appropriate conservative therapy should always be the first option. Treatment options include (4):
Physical Therapy
PT can provide specific exercises and workouts that focus on joint strength. The stability of a given joint is dependent upon muscle strength and ligament integreity. In patients with EDS muscular strengthening can enhance joint stability thereby limiting dislocations, injuries and pain.
Bracing
External bracing is often times utilized in an effort to provide stability when muscle strength and ligamental stability is compromised. The goal is to stabilize the joint so as to prevent injuries, pain and dysfunction. Examples include knee and ankle braces. In more advanced cases wheelchairs and scooters may be necessary.
Surgical Procedures
Surgery may be necessary when life threatening conditions occur such as organ rupture, uncontrolled bleeding and retinal detachment occurs.
Regenexx Procedures
Regenexx is a highly specialized, research based group of nonsurgical procedures that uses PRP and bone marrow concentrate to treat common orthopedic conditions. Bone marrow concentrate contains stem cells. This will be discussed in detail below.
There’s A Non-Invasive Way To Manage Pain (Precise Injections)
There are several ways to manage the pain depending upon the source and its severity. When conservative care in the form of PT, OT and chiropractic care fail, there are other available options which include
Medications
Good quality fish oil and Tumeric can address the pain and inflammation. NSAID should be avoided due to associated risks and negative impact on cartilage and stem cell function. Oral steroids should also be avoided as they can adversely affect ligament stability.
Injections
Not all injections are the same. Steroid injections should be avoided in patients with EDS as they can weaken the already compromised ligaments. They can make the joint hypermobility and and dysfunction worse.
At the Centeno-Schultz Clinic we are experts in the treatment of ligament injuries. Treatment options include the following:
Prolotherapy
Prolotherapy, also known as proliferation therapy, involves the injection of an irritant such as dextrose into a damaged or weaken structure. This is typically ligaments. The injected irritant initates the body’s innate healing process by increasing inflammation. The increased inflammation triggers the body to send healing cells, platelets and specialized proteins to the area. The intended result is healing and strengthening of the injected structures.
PRP
PRP stands for platelet rich plasma. Platelets are cells within our blood that are responsible for clotting. They are also rich in growth factors which can increase blood flow in a given area thereby promoting healing. PRP can be made in a lab or by a bedside aumated centrifuge. Blood is drawn from a patient’s arm and processed in the lab or automated centrifuge. Certain fraction of the blood are removed allowing the platelets to be superconcentrated. At the Centeno-Schultz Clinic we have a state of the art laboratory that allows us to customize the PRP dose to a specific patient’s need. Think of growth factors like shots for local repair cells. They stimulate other cells to do more work and can even call teh needed repair cells to the area.
Bone Marrow Concentrate
Bone marrow aspirate concentrate procedure is a stem cell treatment using autologous bone marrow-derived cells. Autologous means the bone marrow comes from yourself. In contrast Allogenic means bone marrow from a person other than the patient. Bone marrow is commonly taken from your iliac crest (hip) using a needle to remove the bone marrow. The procedure is performed under x-ray or ultrasound guidance. Local anesthetic is injected into the skin and deeper structures prior to the aspiration. The bone marrow aspirate is the placed into a centrifuge where the cells are separated.
What Areas that Can be Treated with Regenerative Injections?
At the Centeno-Schultz Clinic we acknowledge the complexity of the human body and recognize that for best clinical outcomes it is best to view and treat the body as a whole. This concept is referred to as Functional Spinal Unit (FSU). To learn more about this approach please click here.
The list of areas that can treated in patients with EDS is extensive. The most common include:
Cervical, Thoracic and Lumbar Spine: supraspinous, interspinous and thoracolumbar fascia
Upper Cervical Ligaments: Alar and transverse ligaments
Sacroiliac Joints and Ligaments
Knees and important ligaments that include ACL, PCL, MCL and LCL
Hips and supporting capsule and ligaments
Shoulders: Superior, middle and inferior glenohumeral ligaments
Ankles: deltoid, anterior talofibular and calcanofibular ligaments.
The Centeno-Schultz Clinic are experts in the treatment of patients with EDS and hypermobility. We have pioneered the following procedure to address important ligament injuries.
Knees
Non surgical treatment of Anterior Cruciate Ligament tears in the Knee utilizing both PRP and bone marrow concentrate. To learn more please watch video below.
Upper Cervical Ligaments
Important ligaments connect your head to your cervical spine. The two most important are the alar and transverse ligament. Patients with Ehlers-Danlos Syndrome can injure or stretch these ligaments giving rise to a number of symptoms that often times are poorly understood and recognized. The condition is called Craniocervical Instability and has been discussed in prior blogs. To learn more about this revolutionary non surgical treatment option please click on the video below.
Managing Pain Brought On By Ehlers-Danlos Syndrome Is Possible!
Ehlers-Danlos Syndrome can be associated with joint instability, pain and dysfunction. When conservative care fails to provide signficant clinical improvement the good news is that there are new advanced treatment options. Injured, stretched or partially torn ligaments and tendons can be precisely injected under MSK ultrasound with prolotherapy, PRP or bone marrow concentrate. Injections without guidance also known as blind injections are below the standard of care at the Centeno-Schultz Clinic and often times miss the targeted tissue and fail to provide patients with the best clinical outcomes.
In Conclusion
- Ehlers-Danlos Syndrome (EDS) is a group of inherited disorders that affect and weaken the connective tissue such as tendons and ligaments.
- Most cases of EDS are inherited.
- There are 13 major types of EDS.
- The three most common types of EDS are Hypermobile, Classic and Vascular.
- Symptoms and clincal presentation vary depending upon the specific type and severity.
- Diagnosing Ehlers-Danlos Syndrome involves history and physical examination. A specialist is often times used to confirm the diagnosis. Testing may include collagen testing, genetic testing, MRI, CT, Echocardiogram, urine analysis and skin biopsy.
- Common treatment options include physical therapy, bracing and medications. Life threatening conditions can warrant surgery.
- Precise injections of prolotherapy, PRP or bone marrow concentrate can potentially accelerate healing and enhance stability of hypermobile joints.
- Areas that can be treated include the cervical, thoracic and lumbar spine, upper cervical ligaments, sacroiliac joints, knees, hips, shoulders and ankles.
If you or a loved one suffers from Ehlers-Danlos Syndrome and have persistent joint pain and limitations despite conservative care, please schedule a telephone candidacy discussion with a board-certified, fellowship-trained physician. We can help you live comfortably with your Ehlers-Danlos condition. Learn about our advanced regenerative procedures that can improve your qaulity of life and get you back in the game.
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1.Chopra P, Tinkle B, Hamonet C, et al. Pain management in the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017;175(1):212-9.DOI: 10.1002/ajmg.c.31554
2.Malfait F, Castori M, Francomano CA, Giunta C, Kosho T, Byers PH. The Ehlers-Danlos syndromes. Nat Rev Dis Primers. 2020 Jul 30;6(1):64. doi: 10.1038/s41572-020-0194-9. PMID: 32732924.
3.Smits-Engelsman B, Klerks M, Kirby A. Beighton score: a valid measure for generalized hypermobility in children. J Pediatr. 2011 Jan;158(1):119-23, 123.e1-4. doi: 10.1016/j.jpeds.2010.07.021. Epub 2010 Sep 17. PMID: 20850761.
4.Song B, Yeh P, Nguyen D, Ikpeama U, Epstein M, Harrell J. Ehlers-Danlos Syndrome: An Analysis of the Current Treatment Options. Pain Physician. 2020 Jul;23(4):429-438. PMID: 32709178.
5.Germain DP. Ehlers-Danlos syndrome type IV. Orphanet J Rare Dis. 2007 Jul 19;2:32. doi: 10.1186/1750-1172-2-32. PMID: 17640391; PMCID: PMC1971255.
6.Demmler JC, Atkinson MD, Reinhold EJ, Choy E, Lyons RA, Brophy ST. Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case-control comparison. BMJ Open. 2019;9(11):e031365. Published 2019 Nov 4. doi:10.1136/bmjopen-2019-031365
https://docs.google.com/document/d/1-om7dviQhG9LCn1B_mJbXRDkhtPKzhI8-yKWbPjSxyc/edit
Ehlers-Danlos Syndrome
