Classical Ehlers-Danlos Syndrome (cEDS)

Poor posture, such as forward head extension (where the head and chin tend to poke forward instead of sitting directly on top of the neck) causes tension to build up in the upper back, neck, and shoulders, which may lead to a headache. This type of headache is usually felt as a throbbing at the base of the skull and sometimes spreads into the face, especially the forehead.

Headaches related to dysfunction of the temporomandibular joint can occur on one or both sides of the face/head. They are thought to be caused by incoordination of the muscles used for chewing, clenching of the jaw, postural imbalances, and instability of the neck and base of the skull.

A type of headache caused by instability or injury to structures of the cervical spine (the area of the spine found in the neck) such as the atlantooccipital joint (the point where the base of the skull meets the spine), neck muscles, discs, vertebra. Generally triggered by abnormal movements or postures of the neck, pressing the back of the neck, or sudden movements from coughing or sneezing, CGH is usually felt on only one side of the head and/or face. It can also cause symptoms such as pain in the shoulder or arm, reduced flexibility of the neck, and vision problems.

Atlantoaxial instability (AAI) is a potential complication of all forms of EDS. The atlantoaxial joint (also known as the atlantoaxial junction) is a complex joint found between the first and second cervical vertebrae (the first two bones at the top of the spinal column, where the head joins to the neck). also know as the atlantoaxial junction (for more information on AAI, please click here.

Craniocervical instability (CCI) is a type of loose ligament condition in EDS that results in injury to the nervous system. CCI occurs when ligaments from the skull to the spine don’t restrict unsafe movement. Further information on CCI can be found here.

Both the classical and hypermobile types of Ehlers-Danlos syndrome are associated with spinal cerebrospinal fluid leaks. Such leaks should be suspected in EDS patients who describe a sudden onset of orthostatic symptoms, including orthostatic headache, who have had a diagnosis of postural orthostatic tachycardia ruled out, and who do not respond to standard therapy.

Chiari malformation Type I (CMI) has been reported as a condition that can occur with the classical and hypermobile types of EDS. The average age of onset tends to be younger in the CMI and EDS subgroup when compared to the general CMI population. CMI is a disorder affecting the tissue around the brainstem, in which a lack of space causes obstruction of the normal fluid movement around the brain. Obstruction of fluid circulation may flatten the pituitary gland, leading to hormone changes. Surgery should be urgently performed in the presence of worsening neurological problems. Managing both CMI and EDS is particularly difficult due to the head and neck being overly movable, with an increased risk of fluid (CSF) leaks. CMI may be mild enough not to need surgery, and some cases can get better spontaneously. More research in EDS patients with this condition is needed to improve management methods.

Already common in the general population, migraine is more common in women than men and in those with EDS (which also occurs more often in females). Therefore, EDS may be considered a risk factor for migraines. Migraine headaches are long-lasting headaches (symptoms can last anywhere from hours to days), usually felt as a pulsing pain on one side of the head. Some people experience symptoms such as sensitivity to sound, sensitivity to light (including migraine aura: seeing shapes, light flashes, or bright spots, tingling, changes to sense of taste or smell), vomiting and nausea, and may involve sensitivity to light or sound.

A condition where a headache appears suddenly and is continuous for three months or more. In fact, the defining feature of this type of headache is that an individual is usually able to clearly pinpoint the first time the headache occurred. NDPH are often confused with migraine or tension headaches as symptoms can be very similar, and their exact cause is not fully understood: some research suggests NDPH can be triggered by events such as viral infection, inflammation of the immune system, increases or decreases in the spinal fluid pressure and head injury, The headaches, which last for more than four hours a day, are often described as pressure-like or a tightening sensation that can fluctuate in intensity, on one or both sides of the head. NDPH is normally considered to be mild or moderate in severity, although that is not always the case, and does not usually interfere with an individual’s day-to-day activities. For those whose headaches are migraine-like, symptoms may include: problems sleeping, feeling dizzy, light or sound sensitivity, nausea, anxiety and low mood, non-specific abdominal pain, back pain, neck pain, and diffuse muscle and joint pain. Other conditions that have many of the same symptoms as NDPH are ruled out before a diagnosis is given.

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Structural changes to the sclera (the outermost layer of the eye). In some people with cEDs, thinness, and transparency of the collagen fibers which make up the usually opaque, white sclera may allow the underlying
epithelium to show through, causing the sclera to appear slightly blue.

Structural changes to the cornea (the transparent front part of the eye). Some people with cEDS have thin, steep corneas. These changes do not, however, seem to cause an increase in refractory errors (including astigmatism) nor an increase in keratoconus (a cone-like bulge to the normally round dome-shaped cornea).

There is some evidence that shortsightedness may be more common in adults with cEDS than in the general population.

Dermatochalasis (excess skin on the eyelids, sometimes referred to as droopy/floppy eyelids); See the section on Facial Features.

Epicanthic folds (a fold of upper eyelid skin which covers the inner corner of the eye on either side of the nose) Epicanthic folds seem more commonly observed in the young. See the section on Facial Features.

Ear symptoms such as pain, a sense of fullness, or tinnitus can sometimes be experienced as a complication of Temporal headaches in those with cEDS who are affected by muscular dysfunction involving the temporomandibular joint; See sections on Jaw and Head.

• absence or underdevelopment of the ear lobes has been noted, particularly in children and teens. See section on Facial Features. 

Although found in the general population (most frequently caused by trauma to the face), congenital deviated nasal septum (from birth) is frequently associated with genetic connective tissue disorders. The septum is made up of cartilage and bone. When this cartilage or bone is off-center (deviated to one side) or crooked, it can cause difficulty breathing through one or both nostrils (often leading to mouth-breathing during sleep); loud breathing and snoring during sleep; nosebleeds; sinus infections; facial pain; headache and postnasal drip.

Sleep-disordered breathing (SDB)/ The Ehlers-Danlos syndromes are an important and often under-recognized cause of sleep-disordered breathing (SDB), possibly caused by genetically related cartilage defects that lead to the development of craniofacial structures known to cause SDB.

SBD may lead to the development of obstructive sleep apnea (where the walls of the throat relax and narrow during sleep, interrupting normal breathing) and airflow limitation. In one study of classical and hypermobile patients, all the patient cohorts were found to have craniofacial abnormalities which may contribute to SDB. These included significant nasal septum deviation and nasal valve collapse and dental abnormalities. All in the cohort presented with unrefreshing, fragmented sleep, and daytime fatigue, and many complained of snoring and insomnia. OSA is particularly notable in this population for its occurrence in non-obese individuals.

As collagen is found in all of the structures and tissues involved in swallowing and speaking, those with classical EDS may experience laryngological presentations (symptoms involving the voice, swallowing, or upper airway), relating to the stretchiness of ligaments, potential muscle fatigue, or weakness. They are, however, most commonly associated with the hypermobile type.

They include:

• vocal cords and throat muscles that get tired very easily. This may lead to dysphonia (known as hoarseness). Dysphonia can cause the voice to involuntarily sound lower in pitch, softer/weaker in volume, louder in
volume and/or strained, croaky, shaky, or raspy;

• throat pain – which may be related to the need to try and speak at an increased volume in order to be heard, and/or to clenching of the jaw.

• a sensation of globus (a painless sensation of having food, or other obstruction in the throat when there is none there and swallowing is not affected). Globus may be linked to stress and anxiety, muscle tension, loss of muscle coordination, or gastrointestinal dysfunction such as gastroesophageal reflux disease (acid reflux);

• esophageal spasms (throat spasms) – sudden, involuntary contractions in the esophagus (the tube that connects the throat to the stomach) which may be painful and make it hard for food to reach the stomach;

• disordered swallowing. If the three-part sequence involved in swallowing is not performed in coordination by the muscles, ligaments, and nerves involved, this can lead to dysphagia, with symptoms including:

I. a sensation of food “sticking” in the throat or chest;
II. Choking on swallowing liquid or food;
III. Coughing during or immediately after swallowing;
IV. Regurgitation (bringing food back up after it has reached the
stomach). Unlike vomiting, this happens effortlessly, without the contraction of abdominal muscles. It can occur as a result of disordered swallowing and/or as a result of gastroesophageal
reflux disease (GERD);
V. Nasal regurgitation – when food or fluid comes up into the nose; this occurs when the nasopharynx does not close properly;
VI. Other symptoms such as sore throat and/or shortness of breath.

• a sensation of globus (a painless sensation of having a lump or obstruction in the throat when there is none there. Unlike dysphagia, globus occurs between meals and is somewhat relieved by swallowing something. Globus may be linked to stress and anxiety, muscle tension, loss of muscle coordination, or gastrointestinal dysfunction such as gastroesophageal reflux disease (acid reflux);

• Instability of the hyoid bone (the bone that holds up the tongue and voice box, and plays a role in muscle control when opening the jaw). Instability can lead to a clicking sensation in the neck on swallowing or when moving the head and, in rare instances, upper airway restriction.

In craniocervical instability (CCI), overly stretchy ligaments allow the vertebrae (neck bones) to move beyond their normal range of motion, failing to restrict unsafe movement. This leaves the person unable to turn or move their head properly or without pain and makes it difficult for the cervical spine to support the head properly. Since the symptoms of cervical instability may be similar to those of other conditions, it can often be difficult to work out the true cause of symptoms. Symptoms of CCI include:

I. difficulty/inability to hold the head up for an extended period of time,
II. pain at the top of the neck where it joins the skull,
III. dizziness/balance problems,
IV. tinnitus,
V. pressure headaches,
VI. vision problems,
VII. brain fog and memory problems,
VIII. referred pain to the shoulders,
IX. tightness or stiffness in neck muscles,
X. tenderness,
XI. near-constant headaches,
XII. strange skin sensations.

There is increased recognition that nerve injury may occur as a result of stresses and strains of the musculoskeletal system. In some with EDS, the effects of ligament laxity (and resulting neck instability) on nearby nerves, arteries, brainstem, and upper spinal cord may result in degenerative changes to the nervous system. In some cases, these changes may explain slow development of movement skills, poor coordination, learning difficulties such as dyslexia, headaches, and clumsiness.

An overly movable head and neck, such as that seen in CCI, can also impact temporomandibular joint function (functioning of the jaw joint). In a recent survey, researchers found that 90% of the patients with cervical pain experienced problems with their jaw joints had TMD. As the neck and upper spine are often involved in EDS patients, the interaction, recognition, and potential comanagement between them should be considered.

Using dynamic imaging when investigating the possibility of CCI is important because compression of the ventral brainstem may exist when the cervical spine is bent, but appear normal on routine imaging carried out when the spine is straight. In cases of severe headache and worsening function (and after all non-surgery options have been tried),
surgery may be needed. Though there are no established guidelines for treatment in EDS, there is information available for the diagnosis and treatment of CCI in various other connective tissue disorders.

Atlantoaxial instability (AAI) is a potential complication of all forms of EDS. The antantoaxial joint (also known as the atlantoaxial junction) is a complex joint found between the first and second cervical vertebrae (the first two bones at the top of the spinal column, where the head joins to the neck), also know as the atlantoaxial junction. The atlantoaxial junction is the most mobile joint of the body. It is supported by ligaments which, in those with EDS, can stretch more than normal. When these ligaments are stretched too much by rotation, excessive mobility can occur, causing stretching and kinking of arteries which, in turn, results in blood supply problems. Symptoms such as neck pain and suboccipital headaches are the most common findings in those with EDS, however other symptoms such as torticollis (head tilt), limb weakness, tiring very easily, lack of coordination, limited neck mobility, and loss of bladder control have all been attributed to loose ligaments and overly movable joints connecting the head and neck. The first line of treatment should be a neck brace, physical therapy, and avoidance of activities that provoke an exacerbation of symptoms. Surgery can be used to fuse the two joints in extreme cases.

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Aortic Dissection: A life-threatening complication

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Not actually a disease in itself, the term discopathy is used to describe any condition affecting an intervertebvral disk (a cushion of fibrocartilage that acts as a shock absorber between two vertebrae in the spinal column). Pain and, sometimes, other symptoms such as numbness, weakness, and hot, shooting pains in the arms or legs may be experienced, caused by (degeneration) wear and tear, stiffening, and the gradual ‘collapse’ of the disc.

Kyphosis is an abnormal forward curve in the spine. It can occur as a result of spinal instability (caused by weakness of the ligaments, soft tissue, muscles, and joints in the spine allowing a greater than normal range of motion between vertebral sections) and/or by discopathy (see above). As the disc collapses, the segment of the spine situated directly above tilts forward and begins to curve.

Tethered cord syndrome (TCS) is a condition that can be present in EDS, where the spinal cord is attached to surrounding tissue in a way that creates elongation and tension of the nervous tissue, leading to low back pain, loss of bladder control, lower body weakness, and loss of sensation. Symptoms may become more apparent as a child grows. Forced flexing and stretching are often thought to be responsible for the disease starting in adulthood. TCS is treated with surgery that removes material causing tension, but there is no standard technique established.

Both the classical and hypermobile types of Ehlers-Danlos syndrome are associated with spinal cerebrospinal fluid leaks. Such leaks should be suspected in EDS patients who describe a sudden onset of orthostatic symptoms, who have had a diagnosis of postural orthostatic tachycardia ruled out, and who do not respond to standard therapy.

Cerebrospinal fluid (CSF) is a colourless, clear fluid that surrounds the spinal cord and brain, cushioning them from injury and delivering nutrients and removing waste from the brain. A spinal CFS Leak can be caused by events such as a lumbar puncture (spinal tap), spinal anaesthesia or a spinal injury. In some cases, however, CFS leaks occur spontaneously (without any apparent cause).

Growing evidence suggests that a significant proportion of spontaneous spinal CSF leaks occur as a result of the underlying weakness of the spinal dura (a layer of soft tissue surrounding the spinal cord and arachnoid mater, which is responsible for keeping in the cerebrospinal fluid). Weakness in the dural layer is associated with having an underlying heritable disorder of connective tissue (HDCT) such as Ehlers-Danlos syndrome. When a leak occurs, cerebrospinal fluid in the spine can flow into muscles and connective tissue surrounding the spinal column, causing symptoms such as:

I. positional headaches – headaches that occur or worsen when sitting
upright and feel better when lying down (but other patterns do occur),
II. dizziness,
III. neck pain or stiffness,
IV. nausea and vomiting,
V. change in hearing (ringing in the ears, muffled or underwater-like),
VI. sense of imbalance,
VII. sensitivity to light (photophobia),
VIII. sensitivity to sound (phonophobia),
IX. numbness or pain in the arms,
X. pain between the shoulder blades.

Spontaneous CSF leak should be suspected in EDS patients who describe a sudden onset of orthostatic symptoms, who have had a diagnosis of postural orthostatic tachycardia ruled out, and who do not respond to standard therapy. Unfortunately, however, in those with Ehlers-Danlos syndromes, these symptoms may be confused with other associated disorders such as postural orthostatic tachycardia syndrome, persistent fatigue, chronic pain and migraine etc. Some neurosurgeons may also not be aware of new understandings which are currently evolving and may alter the classic teaching about CSF leaks in high-risk groups, such as those with Ehlers-Danlos syndrome. Amongst other things, these include findings that:

I. opening pressure (a measurement of the pressure found inside the spinal canal when a care practitioner initially penetrates it to collect a sample of fluid for analysis) is most often normal in patients and fails to distinguish between patients with and without CSF leaks visible on spinal imaging.
II. Dura-arachnoid enhancement (looked for on diagnostic MRI scans) may be present in only a minority of patients with CSF leaks. Subtle brainstem measurements may be as important as the more classic and obvious dura-arachnoid enhancement to predict finding a spinal CSF leak.
iii. New imaging techniques, such as lateral decubitus digital subtraction myelogram (LDDSM) demonstrate that spinal CSF leaks into epidural and CSF-venous fistulas are much more common than previously thought and will be missed by conventional MRI, magnetic resonance myelogram, and computed tomography myelogram – which provides falsely reassuring spine imaging results.

All of the above can make spontaneous CFS leaks harder to detect and delay diagnosis. Concerns over increased risk related to investigations and surgeries may also make a neurosurgeon hesitant to investigate an EDS patient for a leak. They may, for example, be concerned about impaired wound healing or spinal segmental instability. There is some evidence, however, that suggests the success rate of surgical CSF leak repair remains unchanged regardless of the presence of underlying hereditary connective tissue disorders such as EDS. Nevertheless, further research is still needed to better the surgical risks.

The abnormal twisting or sideways curvature of the spine.

Although most common and severe in the kyphoscoliotic type of Ehlers-Danlos syndrome, scoliosis can be present in any type of EDS. In an evaluation of patients with classical, hypermobile, and vascular EDS, carried out in 2000, 36% of those with classical EDS, 30% of those with hEDS and 33% of those with vascular EDS had scoliosis. A more recent study (2020) found that of seventy-five patients with classical EDS, 74.3% of them had mild scoliosis. Defective connective tissue combined with poor muscle tone and strength, leaving the spinal column lacking support, are likely to contribute to the likelihood of developing scoliosis in those with EDS, although the exact cause is not yet known.

Signs and symptoms of scoliosis include:

IV. one shoulder blade sticking out more than the other,
V. uneven shoulder height,
VI. hips and waist that are uneven,
VII. One side of the rib cage jutting forward,
VIII. head not aligned along the center of the pelvic axis,
IX. on one side of the back appears higher than the other when bending
forward,
X. back pain,
XI. difficulty in breathing may be experienced where the curvature of the spine is significant because the area in the chest where the lungs expand is reduced.

Tarlov cysts are fluid-filled sacs that can develop near the spinal cord, they can put pressure on adjacent neural structures. These abnormalities can be without symptoms, but significant issues can arise such as pain, and bowel/bladder control problems. Of patients undergoing destruction of Tarlov cysts, success is reported in 80–88% of patients, with few complications. More research is needed in order to better understand why Tarlov cysts cause pain in some people and not others; what the effects are; and how common Tarlov Cysts are in those with classic and hypermobile types of EDS as opposed to the general population.

• Generalized joint hypermobility (GJH) is often something a person is born with and possibly inherit, although acquired forms of GJH exist (training such as dance, widespread inflammatory or degenerative diseases of the joints, musculoskeletal tissues, and nerves). The range of movement (the maximum distance and direction a joint can move) is dependent on factors such as the extent of ligament laxity, the shape of the joint sockets, proprioception.

• Sprains. Sprains happen when stresses placed on a joint cause the overstretching or even tearing of the supporting ligaments (the bands of connective tissue that connect two bones together). This may happen as a result of an injury or through the tissue or joint being used to the point where it becomes injured. Sprains can be mild, moderate, or may involve ligaments tearing completely or separating from the bone. All sprains commonly cause pain, swelling, bruising, and inflammation;

• Dislocations (also known as luxations) and subluxations. A dislocation is defined as “displacement of a bone from its natural position in the joint”. This is where the two bones that form a joint fully separate from each other in any direction. A subluxation is a partial dislocation. It can be no less painful than a full dislocation, but the two bones that form the joint are still partially in contact with each other.

Dislocations and subluxations occur in EDS primarily because abnormal collagen composition means ligaments and tendons, which would usually secure the joint like ‘guy ropes’, are stretchier. Other factors may also contribute, such as altered muscle tone, repeated overstretching, the shape of joint surfaces, and traumatic incidents.

Dislocations and subluxations are painful (although the starchiness of ligaments and tendons in those with EDS may, in some people, make them less painful than they might be for people in the general population) and can happen in almost any joint (shoulders, knees, thumbs, and ankles seem to be the most prevalent). In some people, the joint finds its own way back into place. But in others, once the joint slips out, it won’t go back in again and may, if it stays that way for very long (or if the limb starts to change color due to a lack of blood supply, or goes completely numb) require medical intervention.

Some people with EDS experience dislocations/subluxations more frequently than others. For some, they may occur once a year, or once a week or day, and for others, they might be experienced repeatedly throughout the day. Either way, we need to try to reduce the frequency if we can, and manage them when they do happen; Consider adding Jason Parry’s article ‘Tips for reducing the frequency of dislocations/subluxations and how to manage them when they do happen here. https://www.ehlers-danlos.com/dislocationsubluxation-management/)

In EDS, pain sensations often begin in the joints or limbs. Indeed, when asked, many with EDS state that their earliest recollections of painful sensations were experienced in relation to incidents such as dislocations and sprains, as well as from “growing pains”, mostly in the knees or thighs. Causes and contributors to such pain can include:

I. macro trauma – injuries such as dislocations, subluxations, and connective soft tissue damage (ligaments, tendons, muscles), which can cause acute pain and loss of joint function.
II. microtrauma – injuries that are too small to be noticed as they happen. Over time, they may make a person susceptible to recurrent or persistent pain, and possibly early joint degeneration like osteoarthritis
(see below).
III. issues with proprioception – In those with GJH, signals sent from receptors in the joints, skin, muscles, and tendons to the central nervous system may be reduced, affecting the sense of the relative position of parts of the body and how much effort is needed for movement can be reduced. Not understanding where joints are and how much muscle strength it takes to use them can lead to a cycle that increasingly limits the ability to manage everyday life.
IV. factors such as sports activities undertaken, lifestyle, previous damage or surgery, and existing conditions.
Occasional, recurring pain is, of course, a natural result of the trauma, but chronic pain can develop – perhaps because of the repeated triggering of pain receptors in the tissues, or increased sensitivity to pain (hyperalgesia), and perhaps because of an impaired connective tissue function.

Early-onset osteoarthritis (wear and tear of the cartilage, joint lining, ligaments, and bone in a joint). It has been hypothesized that microtrauma in the joints (due to subluxations and dislocations), makes EDS patients prone to developing osteoarthritis (OA) in the early stage.

Temporomandibular joint dysfunction (See section on Jaw) (problems with the jaw joint and the ligaments and muscles that control it) is common.

Flat feet is the term used to describe a change in foot shape in which the foot does not have a normal arch when standing. Instead, the whole foot makes contact with the surface the individual is standing on. Flat feet occur because the ligaments and tendons holding the joints in the foot together are loose.

• hallux valgus – a subluxation of the big toe (often referred to as a bunion), which causes the toe to point towards the other toes on the same foot. This, in turn, cause a bony bulge to form where the big toe joins the side of the foot. The bulge may be associated with pain, rubbing and footwear struggles, and, in some cases, arthritis developing in the joint.

• dyspraxia-like symptoms. Children who are hypermobile at multiple joints in their body may be late walking (bottom shuffling instead of walking) and may struggle to achieve physical coordination, experiencing difficulties in gross motor development such as sitting without support, the ability to run, hop, kick a ball, walk up and downstairs, etc.).

True dyspraxia is a brain-based neurological disorder, in which the brain is unable to smoothly create movement patterns. In children with hypermobile joints, however, lack of physical coordination is usually a result of impaired proprioceptive input from their unstable joints. Therefore, when stability is created through increasing muscle strength, providing braces and splints, etc, an improvement in their movement coordination usually occurs. Although hypermobility may delay motor development in early childhood, intellectual development is unaffected.

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2. Ritelli, M. et al. Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients:
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