Can You Have Ehlers Danlos Without Stretchy Skin?

No, almost all type of EDS has stretchy skin. But, in hEDS (Hypermobile Ehlers Danlos Syndrome), you have only a minimal amount of elastic skin. So skin seems normal in the early stages of hEDS. One of the most notable differences between “normal” and hEDS participants is the degree to which their skin is soft, stretchy, fragile, easily bruised, and has poor wound healing. This is modest in comparison to other types of EDS. If a clinician is not up to date on the classification of EDS types, he or she may assume that all EDS types exhibit severe skin changes, such as those reported in patients with cEDS and vEDS, and this may lead to misdiagnosis. According to the clinical criteria for hEDS, mild skin stretchiness (rather than severe) is recognized as a systemic symptom rather than a local one.

Even though stretch marks are not unavoidable in people with hEDS, they frequently emerge in people with hEDS during teenage growth spurts and are not always caused by rapid weight gain. The absence of stretch marks should not be used as a reason to rule out a diagnosis of high-risk EDS. Other tissues that may fail in the presence of hEDS include the protective coatings surrounding the organs themselves. Hernias are frequently caused by a weakness in this connective tissue in people with hEDS (tissues or organs pushing through). People with hEDS who undergo abdominal surgery, such as laparotomy or C-section, may be more susceptible to develop hernias as a result of the procedure.

HEDS is the most prevalent subtype of Ehlers-Danlos syndromes (EDS), and it is arguably the most common of all hereditary connective tissue illnesses. HEDS is also known as hypermobile type Ehlers-Danlos syndrome (hEDS) (HDCT). Ehlers–Danlos Syndrome Type III diagnosis is now replaced by the new EDS classification system, which is more accurate. Joint hypermobility syndrome (EDS-III / EDS-HT) and hypermobility type III (EDS-III / EDS-HT) (JHS).

Many persons who have previously been diagnosed with EDS-III, EDS-HT, or JHS will now fit the criteria for hEDS; others will be classified as having Hypermobility Spectrum Disorders instead (HSD). The new standards for hEDS are more stringent to achieve a more consistent and targeted identification to understand better the cause(s) and course (natural history) of the illness. With more stringent criteria, there is a better likelihood of discovering the particular causes and mechanisms of disease. More knowledge leads to more opportunities for positive change for those suffering from hEDS, including promoting highly targeted research, successful illness management, and eventually enhancing the quality of life for those suffering from hEDS, among other things.

Classic EDS (cEDS) and Vascular EDS (vEDS) are both characterized by generalized joint hypermobility (GJH), extra joint difficulties, and prominent skin symptoms, which are less severe than those observed in hEDS. hEDS is more than “simply GJH plus a few items from a checklist of results.” It is a comprehensive system of care. People who have hEDS and those who care for them must become familiar with the disorder to understand its characteristics better.

Prevalence of hEDS:

EDS affects at least one in every 5000 people in the population, with 80–90 percent of those suspected to be cases of hEDS.

Although accurate data on the prevalence of hEDS are lacking, it is estimated that at least one in every 5,000 people suffers from EDS, with 80–90 percent of those cases being cases of hEDS. According to high estimates based on the old classification method, up to 2 million people in the United Kingdom, 10-12 million in the United States, 17 million in Europe, and 255 million globally are affected by hEDS. hEDS has been classified more selectively under the new categorization system, resulting in lower statistics than previously reported

Genetics: We still have a lot to learn about hypermobile Ehlers Danlos Syndrome (hEDS) genetics.

At this time, no one gene mutation has been identified as being the cause of hEDS. A wide range of genetic alterations is likely to be responsible for hereditary Ehlers Danlos Syndrome (hEDS). Additional hEDS-related genes should be discovered due to a more stringent classification of hEDS and more in-depth genetic investigations. Due to the identification of genetic causes for hEDS, it is possible that this condition will be further divided into specific named hEDS subtypes or that it will be redefined and replaced by several new specific EDS types, like how classical-like EDS (clEDS) has been defined as a new EDS type due to the identification of the genetic cause for EDS.

A roughly 50 percent chance of being passed on to each kid (autosomal dominance), but different patterns of heredity may explain why this disorder occurs in some families (see Genetics for further information). hEDS inheritance is challenging to study because the condition may be moderate for most of a person’s life, or when compared to close relatives who have the disorder, or when the disease appears to “skip” a generation. The explanation for the perceived overabundance of females is still unclear; however, sex hormones may have a more substantial influence on JH than previously thought. Women are more likely than men to be affected with hereditary Ehlers Danlos Syndrome syndrome (hEDS), which is classified as an autosomal dominant disorder impacted by age and gender.

Natural History: What happens to those who have erectile dysfunction?

In an individual with high-functioning EDS, the condition will likely manifest itself in various ways during their lifespan. The individual may be diagnosed with multiple other conditions known to occur in persons who have high-functioning EDS. Among the findings of a 2010 study was the identification of three illness phases:

  • A “pain” phase
  • A “stiffness” phase
  • A “hypermobility” phase

Alternatively, recent research has led to the hypothesis that there is a natural transition from EDS-HT to GJH due to growing older.

Current research indicates that children with hEDS who experience pain are more likely to have discomfort limited to the lower limbs (for example, “growing pains”) and to have pain induced by recurring tasks such as writing in the school setting than other children. Children who have hEDS may have difficulty with coordination. The “pain” phase is frequently accompanied by a diagnosis of fibromyalgia or other long-term (chronic) pain conditions, as well as chronic fatigue. This phase typically begins in the second to fourth decade and is characterized by chronic pain, headaches, digestive system disorders, and other symptoms, among other things. Only a few people experience the “stiffness” phase, and unfortunately for them, the signs of the “pain” phase may linger and worsen. Their general functionality may be considerably decreased.


Conditions that are often seen in people with hEDS

HEDS can indeed cause substantial discomfort and pain!

Untrained clinicians make sweeping assertions such as, “Ehlers-Danlos syndrome cannot cause pain!” or “Ehlers-Danlos syndrome cannot cause pain!” As it turns out, while hEDS does not necessarily cause considerable pain in every person who meets the diagnostic criteria, many people who have hEDS will suffer from severe pain for a significant period of their life. A doctor may dismiss the fact that hEDS can cause severe discomfort. This may have a profoundly negative impact on the success of the relationship between clinician and patient and the overall quality of life of those who suffer from hEDS.

Those working in the healthcare field must be aware that the incidence of considerable pain in many people with hEDS is well-documented in the literature and can be traced back to a logically postulated or verified cause. According to the American College of Physicians, joint/muscle pain in two or more limbs (occurring daily for less than three months) and long-term, widespread pain (for less than three months) are mainly regarded as part of the diagnostic criteria hEDS.

Dermatology and connective tissue: People who suffer from hEDS do not necessarily have highly stretched skin!

Frustration: Chronic fatigue is one of the most prevalent consequences experienced by those suffering from hEDS.

A prominent symptom of hEDS is chronic, debilitating exhaustion, and this fatigue has a substantial influence on both mental and physical function, ultimately affecting the overall quality of life. Those suffering from hEDS are more likely to meet the criteria for chronic fatigue syndrome (CFS).

Under no condition should a diagnosis of CFS be given to a person who also satisfies the requirements for hEDS be interpreted as indicating that hEDS should be ignored or overlooked. hEDS is believed to be a specific cause of chronic fatigue, but CFS is considered a condition with an unclear etiology; in this scenario, the diagnosis of CFS would be more legitimately called into question than in the previous case.

Cardiovascular: While diseases of the heart and blood arteries can occur due to hEDS, they are usually not severe, but they should be taken into mind individually.

Patients with heart and blood vessel problems, such as mitral valve prolapse (MVP) and aortic root dilatation, are more likely to develop heart and blood vessel problems. Additionally, blood pressure and heart rate issues such as postural orthostatic tachycardia syndrome (POTS), neurally mediated hypotension (NMH), and orthostatic intolerance may develop. Those who suffer fluctuations in blood pressure may also experience episodes of near-fainting or fainting.

Digestive system: The digestive system is affected by hEDS frequently, resulting in gastrointestinal (GI) disorders.

Approximately 75% of people with hEDS will experience issues with the function of their digestive system at some point during their lives. Disruptions in the digestive system can occur anywhere along its length. This includes the mouth and throat (which affects processes such as chewing and swallowing) and other parts of the GI tract. Insufficient flow of material through the tract, reflux, heartburn, stomach pain, bloating, irritable bowel syndrome, diarrhea, constipation, or incontinence are all symptoms of diverticulitis. Individuals with hEDS are more likely than the general population to experience structural abnormalities, such as hernias, internal organ displacement, and rectal prolapse. Further investigation into the link between all structural abnormalities and hEDS is required.


Dysautonomia: For the vast majority of people with hEDS, the “Fight or Flight” and “Rest and Digest” responses do not work correctly.

A substantial amount of literature demonstrates that people with hEDS frequently experience issues with involuntary bodily functions (dysautonomia). The trouble with automatic body functions can cause exhaustion, dizziness and fainting, memory problems, and lacking focus. It can also cause changes in bowel movement, bladder malfunction, and specific psychological characteristics. Dysautonomia may be a debilitating manifestation of hEDS. It will have a more critical impact on their quality of life than joint instability, pain, or any other indication of the condition for some individuals.

Bone Density: The available research does not conclusively demonstrate that hEDS are likely to decrease bone density or an increased risk of fragility fractures. It is necessary to do research that has been carefully planned.

Even though existing studies have suggested a link between various EDS types and conditions such as osteopenia (low bone mineralization) and osteoporosis (low bone density), those who suffer from EDS often have a significantly reduced activity level. Therefore, rather than any alteration in bone density or mineralization directly attributable to EDS, any mineralization or alteration in bone density should be considered in conjunction with EDS. The importance of bone health in hEDS cannot be overstated.

Osteoarthritis: Yes, high-dose ethylene diamine sulfate enhances the vulnerability of joint cartilage to osteoarthritis.

Several decades have passed before osteoarthritis (a breakdown of joints) was first identified in the literature as a probable long-term effect of JH. Since joint hypermobility (JH) is a distinguishing feature of hEDS, and because JH is known to cause osteoarthritis, it would be reasonable to expect that many people who have the disorder will develop osteoarthritis. Just as osteoarthritis is not universally present in all patients suffering from JH, it should not be assumed to be inevitable in all people suffering from hEDS.

Headaches: For a variety of causes, hEDS can cause severe or debilitating headaches in specific individuals.

According to existing research, the prevalence of headaches and migraines, particularly in people with EDS, is higher than in the general population. Headaches in people with erectile dysfunction are thought to be caused by various factors, with putative processes including neck instability, strain, or muscular spasms, jaw joint dysfunction, and pharmaceutical adverse effects. All people with hEDS who suffer from headaches have different types and degrees of intensity in their headaches. Some people believe that headaches are the most incapacitating symptom of hEDS.

The Temporomandibular Joint (TMJ) and Dental Issues: Dentists, Orthodontists, and Oral Surgeons may be the first to suspect that a patient has hEDS.

It is more likely that a hypermobile jaw joint will develop dysfunction than a non-hypermobile jaw common. Those who suffer from hEDS and jaw joint dysfunction frequently experience noises, locking, dislocation, grinding teeth, and migraines in the temple area of the head.

Some of the mouth manifestations of hEDS include fragile gums that gum recession, bleed easily, pointed and deep teeth, small or absent frenula, gum disease, shortened roots, irregular enamel, tooth fractures, ineffective dental anesthesia, and rapid orthodontic correction (and rapid return without orthodontia).

Spine: It can be challenging to evaluate whether a person with hEDS would benefit from surgery at times. Even when surgery is required, it does not necessarily provide a solution to all of the symptoms.

People who suffer from hEDS may experience neck pain, difficulty walking, numbness and tingling in their hands and feet, disorientation, swallowing issues, and changes in their speech, among other symptoms. These individuals are more likely to exhibit indicators of looseness or instability in the areas of the head and neck. Symptoms may continue even after successful surgery in many situations, indicating that the cause of the symptoms is not wholly attributable to head and neck dysfunction.

hEDS patients frequently have aberrant spine curvature, which is caused by a combination of structural and functional abnormalities in the spine’s supporting tissues, to name a few contributing factors. Ideally, conservative care will allow for the avoidance of surgical intervention.

Gynecologic Complications: Women who have hEDS may endure heavy periods or uncomfortable sexual encounters.

Pelvic Dysfunction: It is uncertain whether or whether high estrogen levels alone predispose women to pelvic dysfunction or how significant role childbirth plays in this process.

Many studies did not control for previous childbirth. They included a wide range of EDS types, even though the available research implies that pelvic floor disorders such as urinary incontinence, uterine, rectal, or bladder prolapse are common among people with hEDS.

Birth and pregnancy: To yet, no research has recommended against pregnancy or childbirth only based on a diagnosis of hepatic encephalopathy.

While some studies of women with EDS-type 3/EDS-HT and JHS found a higher incidence of infertility, pregnancy losses, and premature births, other research found no such increase. Studies on preterm birth included Classic EDS in the study group, which was similar to other studies. Before the current EDS classifications, one of the most comprehensive investigations revealed that similar fertility measures existed.

When it comes to how pregnancy impacts symptoms of hEDS, the results are as follows: some symptoms worsen, some signs remain the same, and some symptoms improve. When it comes to labor, it is estimated that temporary labor occurs in more than one-third of all deliveries. Bleeding during or after birth and aberrant scarring after a C-section or an episiotomy are among the most severe complications associated with labor and delivery that are thought to occur at a substantial rate in women with hEDS according to research. According to the most recent research, no studies have recommended against pregnancy and childbirth because a woman has been diagnosed with hEDS without any other concerns.

The urinary system: It may be affected by hEDS, leading to urinary incontinence, urinary tract infections, vesicoureteral reflux, and voiding dysfunction in children.

Sleep Disturbance: Patients suffering from hEDS may experience extreme fatigue.

People who suffer from hEDS frequently suffer from considerable sleep deprivation. When you don’t get enough restorative sleep, you can develop any number of severe health problems, including a weakened immune system, poor muscle coordination, and an increased perception of pain, as well as issues of memory and thought processes (such as “brain fog,” irritability, and depression). Some people who have hEDS have been diagnosed with additional illnesses such as restless leg syndrome or sleep apnea, which are medically recognized.

Mast Cell Activation Syndrome (MCAS) in hEDS: The current understanding of mast cell activation syndrome (MCAS) in hEDS is inadequate.

Mast cell activation syndrome is an immunological disease that can cause allergy-like symptoms, up to and including anaphylaxis, in susceptible individuals. More research is needed to determine whether MCAS is a condition that happens more frequently in people with hEDS than in the general population and how it impacts the person with hEDS and the management of the illness.

Aspects of the psyche: Although hEDS is not found in mind, it is located in the connective tissue, impacting the mind.

Most people suffering from hEDS are either ascribed psychiatric diagnoses or are disregarded by professionals who fail to notice that they fit diagnostic criteria for the disorder. Inevitably, this leads to a failure to provide adequate care for the person suffering from hEDS. When dealing with chronic diseases, such as hEDS, it is vital to remember that psychological problems (such as anxiety or depression) are persistent. Ignoring major concomitant psychological disorders will result in less effective treatment.

Quality of Life: Research to date has consistently found that hEDS hurts one’s quality of life.

According to studies that have been carefully conducted, individuals with EDS and associated secondary concerns such as digestive system diseases, anxiety, depression, and physical discomfort have a lower quality of life when assessed or reported than the general population.

Management: Recognizing the presence of hEDS is only half the battle. The diagnosis is not sufficient in and of itself. Adequate care of hEDS requires an understanding of the condition’s complexity, just as it does with any other disorder. There is a set of evidence-based standards of treatment that has been developed through the work of several healthcare practitioners. Healthcare professionals must adhere to established standards of care when managing hEDS. This includes treating both acute and long-term difficulties while also emphasizing the importance of preventative care and education.

Clinicians, particularly surgeons and anesthesiologists responsible for caring for a patient with hEDS, should become familiar with the current management criteria.

The following are essential considerations in the management of conditions in hEDS:

  • The approach should be comprehensive, taking into consideration the patient’s problems.
  • When it comes to pain relief, results should not be expected overnight: it often takes months of regular toning exercise to slow down deterioration, and it may take years to see a significant reduction in discomfort. Fatigue, like pain, frequently responds to treatment, such as exercise therapy, but only after a long period of time.
  • The use of many drugs in conjunction with physical therapy and alternative medicine is often more successful than using one or two medications on an as-needed basis alone. Some individuals who can still cope with their pain may require a more comprehensive pain treatment strategy. It is preferable to maintain adequate pain control while keeping it at an acceptable level rather than removing it thoroughly.
  • In addition to counseling and cognitive-behavioral treatment, consideration should be given to distraction tactics, hypnosis, and the careful consideration of pharmacological therapy in managing mental disorders.

Future predictions:

As vital as it has been to refine the diagnostic criteria for hereditary Ehlers Danlos Syndrome, the quest for genetic causes of the ailment is even more critical in order to identify, investigate, and ultimately cure patients suffering from the condition. hEDS is the only kind of Ehlers–Danlos syndrome that has not been linked to skin stretchiness or a known molecular abnormality. Instruments such as a database registry will be essential in finding a solution to the problem and discovering how hEDS is formed. A large number of further research are urgently required to guide therapy effectively. Physical therapy, pain management, imaging, and measurement are some of the topics that could be investigated.

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