Hypermobile Ehlers-Danlos syndrome (hEDS) is a heritable connective tissue disorder that causes generalized joint hypermobility, joint instability, and chronic pain. hEDS is also associated with a variety of other symptoms and related conditions that affect many different areas of the body.
hEDS is the most common type of EDS, accounting for about 90% of EDS cases. hEDS is currently classified as a rare disorder and is thought to affect at least 1 in 3,100–5,000 people. However, the true prevalence of hEDS is not known and may be underestimated.
Signs and Symptoms
hEDS may be suspected if a person has:
Joint hypermobility
Joint instability
Chronic pain
Mild skin hyperextensibility
Abnormal scarring
People with hEDS may also have:
Chronic fatigue
Gastrointestinal issues
Dysautonomia
Headaches
Mast cell activation diseases
You can learn more about the features of hEDS by selecting different body parts on the left side of the screen.
Causes
The cause(s) of hEDS have not been identified. The condition appears to follow an autosomal dominant inheritance pattern. This means people with hEDS have a 50% chance of passing the condition on to each child they have.
Diagnosis
There is currently no laboratory test available to diagnose hEDS. The diagnosis of hEDS is given to adults who meet the clinical diagnostic criteria for hEDS. Children and adolescents with generalized joint hypermobility can be assessed using the pediatric diagnostic framework.
To meet the diagnostic criteria for hEDS, a person must meet all three criteria (1 and 2 and 3).
Criterion 1: Generalized joint hypermobilityCriterion 2: Two or more of the following features (A, B, and C) must be present
Feature A: Manifestations of a connective tissue disorder (must have five or more of the following):
Unusually soft or velvety skin
Mild skin hyperextensibility
Unexplained striae such as striae distensae or rubrae at the back, groins, thighs, breasts, and/or abdomen in adolescents, men, or pre-pubertal women without a history of significant gain or loss of body fat or weight
Bilateral piezogenic papules of the heel
Recurrent or multiple abdominal hernia(s) (e.g., umbilical, inguinal, crural)
Atrophic scarring involving at least two (2) sites and without the formation of truly papyraceous and/or hemosideric scars as seen in classical EDS
Pelvic floor, rectal, and/or uterine prolapse in children, men or nulliparous women without a history of morbid obesity or other known predisposing medical condition
Dental crowding and high or narrow palate
Arachnodactyly, as defined in one or more of the following:
positive wrist sign (Steinberg sign) on both sides
positive thumb sign (Walker sign) on both sides
Arm span-to-height ratio ≥ 1.05
Mitral valve prolapse (MVP) mild or greater based on strict echocardiographic criteria
Aortic root dilatation with Z-score >+2
Feature B: Positive family history (one or more first-degree relatives independently meet the current diagnostic criteria for hEDS)
Feature C: Musculoskeletal complications (must have at least one of the following):
Musculoskeletal pain in two or more limbs, recurring daily for at least three (3) months
Chronic, widespread pain for at least three (3) months
Recurrent joint dislocations or frank joint instability, in the absence of trauma (a or b)
Three (3) or more atraumatic dislocations in the same joint or two (2) or more atraumatic dislocations in two (2) different joints occurring at different times OR
Medical confirmation of joint instability at two (2) or more sites not related to trauma
Criterion 3: ALL of the following prerequisites must be met:
Absence of unusual skin fragility, which should prompt consideration of other types of EDS
Exclusion of other heritable and acquired connective tissue disorders, including autoimmune rheumatologic conditions
In patients with an acquired connective tissue disorder (e.g., lupus, rheumatoid arthritis, etc.), additional diagnosis of hEDS requires meeting both Features A and B of Criterion 2. Feature C of Criterion 2 (chronic pain and/or instability) cannot be counted towards a diagnosis of hEDS in this situation.
Exclusion of alternative diagnoses that may also include joint hypermobility by means of hypotonia and/or connective tissue laxity. Alternative diagnoses and diagnostic categories include, but are not limited to:
Neuromuscular disorders (such as myopathic EDS and Bethlem myopathy)
Other heritable connective tissue disorders (such as other types of EDS, Loeys–Dietz syndrome, Marfan syndrome)
Skeletal dysplasias (such as osteogenesis imperfecta)
Management
hEDS is managed by addressing the symptoms a person is experiencing. hEDS can cause a variety of symptoms in many areas of the body, so people with hEDS may require multiple providers in different specialties to manage their care. Key aspects of care include physical therapy and pain management. Everyone with hEDS is different, so each person should work with their care team to develop a care plan that meets their individual needs.
Choose a body part from the menu to explore the signs and symptoms of hEDS
Signs and Symptoms
Musculoskeletal
Skin
Nervous System
Spine
Head
Mouth and Throat
Eyes
Cardiovascular
Gastrointestinal
Pelvic organs
Immune System
Hands
Feet
Pregnancy
How to Use:
Explore the features of hEDS by selecting different body parts from the menu.
Please note that hEDS affects each person differently. The symptoms listed here may not affect everyone with hEDS, and people with hEDS may have other symptoms that are not listed on this page. This page is intended to provide information about symptoms that may occur in individuals with hEDS and does not constitute medical advice. Always consult a healthcare professional for personalized medical guidance.
Select from the list below to learn how hEDS can affect the musculoskeletal system.
Joint hypermobility
Joint hypermobility means a joint has a greater range of motion than usual. People with hEDS have generalized joint hypermobility, which means joint hypermobility is present in many areas throughout the body.
Joint instability
A joint is the point where two or more bones connect. Joint instability means the bones of a joint are not held in place securely. This can lead to joint subluxations, dislocations, sprains, and other injuries.
A joint dislocation occurs when two bones at a joint separate completely and are no longer touching. A subluxation is a partial dislocation in which two bones at a joint are out of place but are still touching each other.
Joint and muscle pain
Most people with hEDS have chronic pain that persists over a long period of time. hEDS can also cause acute pain that lasts for a shorter period due to something specific, like an injury.
Sprains
Ligaments are bands of connective tissue that can connect two bones in a joint. Sprains occur when ligaments are stretched or torn, which can cause pain, swelling, and bruising.
Strains
Tendons are bands of connective tissue that connect muscles to bones and other structures. Strains occur when muscles or tendons are stretched or torn, which can cause pain, swelling,and muscle spasms.
Osteoarthritis
Cartilage is a connective tissue that protects the joints by cushioning the bones and preventing them from rubbing together. Osteoarthritis (OA) occurs when the cartilage in a joint wears away. Osteoarthritis can cause joint pain, swelling, and stiffness.
Osteoarthritis is common as people age because it is caused by wear on the joints over time. Osteoarthritis may start at a younger age in people with hEDS because joint hypermobility causes increased wear on the joints.
Arm span-to-height ratio ≥ 1.05
Arm span is the distance between a person’s fingertips when their arms are outstretched parallel to the ground in opposite directions while standing upright. A person’s arm span is usually about the same as their height, with an arm span-to-height ratio of about 1.Some people with hEDS have a longer arm span than height, with an arm span-to-height ratio greater than or equal to 1.05.
Select from the list below to learn how hEDS can affect the skin.
Skin hyperextensibility
Skin hyperextensibility means the skin can be stretched beyond the normal range. Many people with hEDS have mild skin hyperextensibility.
Easy bruising
People with hEDS often bruise easily.
Soft, velvety skin
People with hEDS may have soft, velvety skin.
Skin fragility
Some people with hEDS have fragile skin that is prone to tearing.
Poor wound healing
Wounds may heal poorly or take longer to heal in people with hEDS.
Atrophic scars
Atrophic scars are sunken or depressed scars that form when wounds heal belowthe normal surface layer of the skin.This happens when the body does not produce enough collagen during healing.
Stretch marks
Stretch marks, also called striae,arescars thatoccur when skin stretches or shrinks quickly. These indented streaks in the skin are common in peoplewho have had rapid weight changes, including during pregnancy. Some people with hEDS have unexplained stretch marks without a history of significant weight changes or pregnancy.
Resistance to local anesthetics
Local anesthesia is amedicineused to numb parts of the body before a medical procedure. Local anesthetics, such as lidocaine, are not as effective in some people with hEDS.
Select from the list below to learn how hEDS can affect the nervous system.
Dysautonomia
Dysautonomia, also called autonomic dysfunction, is a group of disorders that affect the autonomic nervous system. The autonomic nervous system regulates many involuntary bodily processes that we do not consciously think about, including heart rate, blood pressure, body temperature, sweating, digestion, metabolism, and bladder control.
Common symptoms of dysautonomia include:
Tachycardia (fast heart rate)
Hypotension (low blood pressure)
Dizziness/lightheadedness
Gastrointestinal dysmotility (problems moving food through the digestive system)
Bladder issues
Temperature and sweating dysregulation
Sleep problems
Each type of dysautonomia causes different symptoms. Many people with hEDS have a type of orthostatic intolerance, which means the symptoms occur when upright or standing. The two most common types of orthostatic intolerance are:
Orthostatic hypotension (OH) — low blood pressure on being upright
Postural orthostatic tachycardia syndrome (POTS) — an abnormal increase in heart rate when standing without a drop in blood pressure
Reduced proprioception
Proprioception is the ability to sense the body’s position and movement. Research shows that people with hEDS have decreased proprioception. Reduced proprioception may make a person seem clumsy or uncoordinated and increase the risk of injury.
Neuropathic pain
Neuropathic pain is a type of persistent (or chronic) nerve pain caused by problems with the nervous system. Nerve pain may feel like burning, stabbing, shooting, numbness, or tingling.
Nerve entrapment
Nerve entrapment occurs when a nerve is compressed or pinched by surrounding tissues. Nerve entrapment can cause pain, numbness, tingling, and weaknessin the affected area.
Small fiber neuropathy
Small fiber neuropathy (SFN) occurs when small nerve fibers are damaged. Small nerve fibers regulate bodily processes and carry sensations like pain and temperatureto the brain. Symptoms of SFN include pain, numbness, tingling, and burning in the feet and hands.
Idiopathic intracranial hypertension
Idiopathic intracranial hypertension (IIH), also called pseudotumor cerebri, is an increase in pressure around the brain. IIH can cause symptoms such as headaches and vision changes.
Cerebrospinal fluid leaks
Cerebrospinal fluid (CSF) is a liquid that surrounds and protects the brain and spinal cord. A CSF leak happens when CSF leaks out through a tear in the outer lining of the brain and spinal cord.
Symptoms of CSF leaks include:
Headaches that are worse when standing
Neck or shoulder pain
Ringing in the ears
Changes in hearing or vision
Dizziness
Nausea and vomiting
Thoracic outlet syndrome
Thoracic outlet syndrome (TOS) occurs when nerves or blood vessels in the lower neck and upper chest are compressed.
Symptoms of TOS include:
Pain in the neck and shoulder
Numbness and tingling of the fingers
Weakness in the arms
Cold hands
Swelling
Skin color changes
Select from the list below to learn how hEDS can affect the spine.
Scoliosis
Scoliosis is a sideways curve in the spine. Scoliosis gives the spine an “S” or “C” shape.
Kyphosis
Kyphosis is an abnormal forward curve in the spine that causes the upper back to look more rounded.Some people with hEDSdeveloppostural kyphosisdue to poor posture and loose connective tissues.
Craniocervical instability
Craniocervical instability (CCI) is increased movement where the spine meets the skull. This can happen when the surrounding tissues are too weak or loose to properly support the joint between the skull and the first vertebra of the spine.
Symptoms of CCI include:
Headaches
Neck pain
Dizziness
Balance and coordination issues
Nausea
Numbness and tingling in the hands and feet
Bladder or bowel issues
Vision and hearing problems
Swallowing issues
Atlantoaxial instability
The atlantoaxial joint connects the first (C1) and second (C2) vertebrae in the neck. Atlantoaxial instability (AAI) is increased movement in the atlantoaxial joint. This can happen when the surrounding tissues cannot properly support this joint.
Symptoms of AAI include:
Neck pain
Headaches
Restricted neck movements
Vision changes
Dizziness
Nausea
Facial pain
Swallowing issues
Chiari I malformation
Chiari I malformation, also called Arnold-Chiari 1 malformation, occurs when the lower part of the brain bulges into the spinal canal. This may put pressure on parts of the lower brain and upper spinal cord and block the flow of cerebrospinal fluid.
Symptoms of Chiari I malformation include:
Headache
Neck pain
Balance problems
Dizziness
Vision problems
Coordination issues
Numbness and tingling in the hands and feet
Bladder or bowel issues
Trouble swallowing
Hoarseness
Tethered cord syndrome
The spinal cord is part of the nervous system that extends from the brain to the lower back. It carries nerve signals back and forth between the brain and the nerves that run throughout the body.
The spinal cord normally floats freely inside a tube in the spine called the spinal canal. In tethered cord syndrome (TCS), the spinal cord is stuck (tethered) to the inside of the spinal canal. This limits the spinal cord’s movement and causes it to stretch.
Symptoms of tethered cord syndrome include:
Low back pain
Leg pain
Leg weakness or numbness
Changes in bladder and bowel function
Degenerative disc disease
The spine is made up of bones called vertebrae. The vertebrae are separated by discs of connective tissue that support and cushion them and allow the spine to move. Degenerative disc disease happens when the spinal discs wear down and no longer properly cushion the vertebrae.
Degenerative disc disease becomes more common as people age due to wear on the joints over time. Joint hypermobility and instability can increase wear on the joints, which may contribute to the development of degenerative disc disease in people with hEDS.
Select from the list below to learn how hEDS can affect the head.
Fatigue
Fatigue is severe tiredness or lack of energy that prevents a person from functioning normally. Many people with hEDS have chronic fatigue, which is constant or recurring fatigue that lasts for more than six months.
Headaches
People with hEDS may get headaches for several different reasons, including:
Migraines
Muscle tension
Idiopathic intracranial hypertension
Dysautonomia
Craniocervical instability
Temporomandibular joint dysfunction
Cerebrospinal fluid leaks
Cervical spine disorders
Lightheadedness
People with hEDS may sometimes feel lightheaded or dizzy, particularly when standing. Lightheadedness is often due to dysautonomia in people with hEDS.
Sleep issues
People with hEDS may have issues with sleep initiation (falling asleep), sleep maintenance (staying asleep), and sleep restoration (getting refreshing sleep).
Sleep apnea
Obstructive sleep apnea (OSA) is when breathing stops repeatedly during sleep due to a partial or complete airway blockage.
Anxiety
Anxiety is a feeling of worry, nervousness, or unease about something. Anxiety can cause physical symptoms, such as fast heart rate, rapid breathing, and sweating.
Depression
Depression is a constant feeling of sadness and loss of interest in activities.
Attention deficit hyperactivity disorder (ADHD)
Attention deficit hyperactivity disorder (ADHD) is a condition that causes people to be inattentive, hyperactive, and impulsive.
Inattentive means someone is easily distracted and has trouble focusing their attention
Hyperactive means someone moves around a lot and has a hard time sitting still
Impulsive means someone acts quickly without thinking their actions through
Autism spectrum disorder
Autism spectrum disorder, also called autism or ASD, is a neurodevelopmental disorder that affects how people communicate and interact with the world. Autism is a “spectrum disorder,” which means there is wide variation in both the type and severity of symptoms. Autism is often associated with difficulties with social and communication skills, repetitive behaviors, restricted interests, and sensory sensitivities.
Select from the list below to learn how hEDS can affect the mouth and throat.
High or narrow palate
Some people with hEDS have a high or narrow palate, meaning the roof of the mouth is unusually tall or narrow.
Dental crowding
Dental crowding, or malocclusion, means there is not enough space for all of the teeth to fit in the mouth properly.
Temporomandibular joint dysfunction
The temporomandibular joint (TMJ) connects the lower jaw to the skull. Problems with the TMJ and the ligaments and muscles that control it are more common in people with hEDS.
Voice disturbance
Some people with hEDS have trouble producing or sustaining their voice, also known as dysphonia.
Swallowing difficulties
Some people with hEDS have a hard time swallowing, also known as dysphagia.
Select from the list below to learn how hEDS can affect the eyes.
Nearsightedness (myopia)
Myopia, also called nearsightedness or shortsightedness, is a condition that makes it difficult to see objects that are far away. Due to differences in eye shape, people with myopia can see objects near them more clearly but have trouble seeing objects further away.
Select from the list below to learn how hEDS can affect the cardiovascular system.
Tachycardia
Tachycardia occurs when the heart beats too fast, at more than 100 beats per minute at rest.Many people with hEDS experience tachycardia due to dysautonomia.
Mitral valve prolapse
The heart has four chambers separated by valves that open and close to ensure that blood flows in the correct direction. The mitral valve separates the left chambers of the heart.
Mitral valve prolapse (MVP) occurs when the mitral valve is floppy and does not close tightly. Some people with hEDS have MVP, but it is usually mild and does not progress or require treatment.
Aortic root dilation
The aorta is the largest artery in the body. It carries blood from the heart to the rest of the body. Aortic root dilation occurs when the first section of the aorta is enlarged. Some people with hEDS have mild aortic root dilation, but it typicallydoes not progress or require treatment.
Select from the list below to learn how hEDS can affect the gastrointestinal system.
Dysmotility
Gastrointestinal motility is the movement of food through the digestive system. Problems with this process are known as dysmotility. Dysmotility occurs when the muscles or nerves of the digestive system don’t work properly. This can cause symptoms such as reflux, nausea, vomiting, abdominal pain, bloating, constipation, and diarrhea.
Gastroesophageal reflux disease (GERD)
The esophagus is a tube that connects the throat to the stomach.Gastroesophageal reflux disease (GERD) occurs when stomach acid regularly flows backward into the esophagus. This backward flow of acid cancause burning in the chest, which isknown as heartburn. GERD can also cause swallowing and voice problems.
Gastroparesis
Gastroparesis, also called delayed gastric emptying, occurs when the stomach either slows down or stops working, causing food to remain in the stomach for longer.Symptoms of gastroparesis include nausea, vomiting, feeling full at the beginning of a meal, and feeling full long after a meal.
Irritable bowel syndrome (IBS)
Irritable bowel syndrome (IBS) is a condition that causes abdominal pain and changes in bowel movements.
Nausea and vomiting
People with hEDS may feel uneasy and feel the need to vomit.
Abdominal pain
Some people with hEDS experience pain in the abdomen, the midsection of the body that contains the gastrointestinal system and other organs.
Bloating
Bloating is feeling fullness, tightness, or pressure in the abdomen. It is usually caused by a buildup of air or gas in the stomach or intestines. Bloating may be uncomfortable and make the abdomen look larger.
Constipation
People with hEDS may have infrequent or difficult bowel movements.
Diarrhea
People with hEDS may have loose, watery, or more frequent bowel movements.
Hernia
A hernia occurs when an internal body part pushes through a weak spot in thetissues that support it. This creates an outward bulge, typically in the abdomen or groin.
Abdominal vascular compression syndromes
Abdominal vascular compression syndromes are a group of conditions that occur when blood vessels in the abdomen are put under pressure (compressed) by nearby structures or organs. Abdominal vascular compression syndromes can cause pain, nausea, vomiting, and other symptoms
Types of abdominal vascular compression syndromes include:
Median arcuate ligament syndrome (MALS) – occurs when the median arcuate ligament compresses the celiac artery
Nutcracker syndrome – occurs when arteries near the kidney compress the left renal vein
Superior mesenteric artery syndrome (SMAS) – occurs when part of the small intestine is compressed between the abdominal aorta and the superior mesenteric artery
May-Thurner syndrome – occurs when the right iliac artery compresses the left iliac vein
Select from the list below to learn how hEDS can affect the pelvic organs.
Voiding dysfunction
Voiding dysfunction occurs when there are problems with filling, storing, and emptying urine from the bladder. Symptoms of voiding dysfunction include changes in urinary frequency (urinating more than eight times a day), urgency (feeling a stronger need to urinate), retention (being unable to completely empty the bladder), and control (urine leaking from the urethra).
Urinary incontinence
Urinary incontinence is the loss of bladder control. People with urinary incontinence are not always able to prevent urine from leaking out of the urethra.
Prolapse
Prolapse occurs when one or more pelvic organs fall from their normal position. This happens when the muscles and tissues cannot properly support the bladder, uterus, or rectum.
Dyspareunia
Dyspareunia is painin the genital area before, during, or after sexual intercourse.
Painful, heavy, or prolonged menstrual bleeding
People with hEDS who menstruate are more likely to have painful periods (dysmenorrhea) andheavy periods or periods that last longer than usual (menorrhagia).
Select from the list below to learn how hEDS can affect the immune system.
Mast cell activation syndrome (MCAS)
Mast cells are part of the immune system that cause inflammation and allergic reactions when activated. Mast cell activation syndrome (MCAS) refers to an increased number of mast cells, increased activity of mast cells, or both.
MCAS can cause many different symptoms throughout the body, including typical allergic responses (such as hives, itchiness, and anaphylaxis), gastrointestinal symptoms (such as nausea and abdominal pain), and bladder issues (such as pain and inflammation).
Select from the list below to learn how hEDS can affect the hands.
Arachnodactyly
Some people with hEDS have arachnodactyly, which means their fingers and toes are unusually long and slender.
Select from the list below to learn how hEDS can affect the feet.
Piezogenic papules of the heel
Piezogenic papules are small bumps of fat that appear under the skin when pressure is applied to the heels or wrists. Piezogenic papules usually do not cause problems but can cause pain in some cases.
Select from the list below to learn how hEDS can affect pregnancy.
Changes in symptoms during pregnancy
People with hEDS may experience changes in their symptoms during pregnancy. This may include the worsening of the following:
Pain
Joint instability
Gastrointestinal issues
Dysautonomia
Mast cell activation syndrome
Increased bleeding
Some people with hEDS bleed more during pregnancy and birth. This may be due to fragile tissues or problems with the platelets.
Fast active labor
The active phase of labor starts whenthe cervix dilates to 6 centimeters and contractions become regular. This active phase usually lasts about four to eight hours butmay be shorter (less than 3 hours) for people with hEDS.
Please note that hEDS affects each person differently. The symptoms listed here may not affect everyone with hEDS, and people with hEDS may have other symptoms that are not listed on this page. This page is intended to provide information about symptoms that may occur in individuals with hEDS and does not constitute medical advice. Always consult a healthcare professional for personalized medical guidance.
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