Why do we need awareness?

We need awareness

Why do we need awareness?

The average time to diagnosis of an Ehlers-Danlos syndrome (EDS) or hypermobility spectrum disorder (HSD) is 10-12 years: for some, it can take decades. Early diagnosis is crucial to positive patient health.

Too many in our community report that they are forced to travel far and wide to access a physician who knows how to manage their healthcare, often at great personal expense, and often with incredibly long wait times of over two years. In some countries, there is no recognition of EDS or HSD, or very little knowledge or understanding on how to manage symptoms.

As these conditions are multi-systemic, the problems often go unconnected for many years. Many report being told their symptoms “are all in their head” or that they cannot possibly be experiencing the pain or other symptoms they say they are. Misdiagnosis is common, delaying treatment, or resulting in unnecessary surgeries or unsuitable treatments.

Once diagnosed, there is often little or no follow-up care, and often at the point of diagnosis, patients are not given information on their condition, how to self-manage aspects of their care, adaptions that can be made to improve quality of life, or where to find support for a lifelong, chronic condition.

People have been turned away from Emergency Rooms or had treatment delayed due to misconceptions or lack of knowledge on the different subtypes of EDS, HSD, and their associated conditions. This needs to change, and awareness is key. 

Community Voices

Ellie from England, Dominique from Scotland, Luca from Italy, Jessica from England, and Faith from the USA, share their stories with us and why awareness is so important to those living with EDS and HSD.

We need pathways for treatment and care.

We need education of healthcare professionals

Living with GI pain and gastroparesis

We need advocacy, support, and empathy

What are the Ehlers-Danlos syndromes and hypermobility spectrum disorders?

The Ehlers-Danlos syndromes (EDS) are a group of 13 heritable connective tissue disorders. The conditions are caused by genetic changes that affect connective tissue. Each type of EDS has its own set of features with distinct diagnostic criteria. Some features are seen across all types of EDS, including joint hypermobility, skin hyperextensibility, and tissue fragility. 

The hypermobility spectrum disorders (HSD) are diagnosed when the musculoskeletal complications of joint hypermobility and joint instability (ease of injury, joint pain, and dislocations for example) arise in a person who does not have the defining features of an underlying syndrome such as EDS or other heritable disorders of connective tissue or cause primary cause of joint pain. Other problems such as fatigue, headaches, GI problems, and autonomic dysfunction are often seen as part of HSD.

At this time, the prevalence of the Ehlers-Danlos syndromes is said to be 1 in 5,000 people, with rarer types described as found in 1 in 20,000 to 1 in 100,000 depending on the variant, and ultra-rare types found in just a few families. Recent clinical experience suggests that the hypermobile variant of Ehlers-Danlos syndrome (hEDS) may be more common. EDS and HSD are known to affect people of all genders, all racial, and all ethnic backgrounds. 

How can someone with an EDS or HSD be affected?

The Ehlers-Danlos syndromes have a common set of problems that include joint hypermobility, joint instability, skin laxity and injury, and pain. Although some of the concerns in EDS can be prevented and many can be treated to reduce the burden of illness, EDS is a chronic, life-long condition. 

Several related disorders are observed in a number of people with EDS and with HSD (known as comorbid conditions or associated symptoms and conditions). These add complexity to the presentation of their condition and its management. Such related disorders include for example functional bowel disorders; autonomic dysfunction; severe chronic fatigue; neurological concerns including cord and nerve entrapment and sensory neuropathy; immune hypersensitivity; anxiety disorders and depression; and, ADHD. 

In some of the rarer types of EDS, life-threatening complications such as heart valve disease, rupture of organs, and aneurysm formation and rupture of major blood vessels can occur. 

Vascular EDS (vEDS) is a life-threatening connective tissue disorder that affects all tissues, arteries, and internal organs making them extremely fragile, it is estimated to affect 1 in 90,000 people. At present, the life span for affected individuals with vEDS is a median age of about 51 years (49 for males and 53 for females) but with a very large range from 10 years to 80 years. 

How are the Ehlers-Danlos syndromes inherited?

The two known inheritance patterns for the Ehlers-Danlos syndromes include autosomal dominant and autosomal recessive.

  • Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary to cause a particular disease. The abnormal gene can be inherited from either parent or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from an affected parent to an offspring is 50% for each pregnancy. The risk is the same for people assigned female at birth and people assigned male at birth. 
  • Recessive genetic disorders occur when an individual inherits two copies of an abnormal gene for the same trait, one from each parent. If an individual inherits one normal gene and one gene for the disease, the person will be a carrier for the disease but usually will not show symptoms. The risk for two carrier parents of both passing on the altered gene and having an affected child is 25% with each pregnancy. The risk of having a child who is a carrier like the parents is 50% with each pregnancy. The chance that a child receives normal genes from both parents is 25%. The risk is the same for people assigned female at birth and people assigned male at birth. 
  • In some individuals, the disorder is due to a spontaneous (de novo) genetic mutation that occurs in the germ cell (egg or sperm cell) or early on in the fertilized egg itself as the embryo begins to grow. In such situations, the disorder is not inherited from the parents. 

The signs and symptoms of EDS are many and vary between the different types. They may also vary between members of a family with the same type of EDS. 

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