Uncovering The Many Hidden Forms of Ehlers-Danlos Syndrome

How many forms of EDS are there? This is a question that gets asked usually right after “What is EDS”? As a sufferer of the disorder, it sometimes takes a lot of explaining for me to talk about what it is, and what it isn’t.

Ehlers-Danlos Syndrome (EDS) is a group of genetic disorders that manifest in various forms, each affecting the connective tissues in different ways. These tissues provide strength and elasticity to the skin, joints, blood vessels, and internal organs. The diversity in symptoms and severity across the EDS spectrum makes it a challenging condition to diagnose and manage. By exploring the primary forms—hypermobile, classical, vascular, and myopathic—we aim to shed light on the complexities of these disorders, offering insight into their impact on those affected.

Understanding EDS is not just about recognizing the signs; it’s about comprehending the profound effects these conditions have on daily life. Through education, we can promote better support systems and more effective treatments for individuals living with EDS.

What is Ehlers-Danlos Syndrome?

EDS encompasses a collection of connective tissue disorders, marked by a range of symptoms from highly flexible joints to fragile skin. The syndrome was first detailed by Edvard Ehlers in 1901 and further characterized by Henri-Alexandre Danlos in 1908. The discovery brought attention to the hereditary nature of connective tissue disorders, highlighting the need for further research and understanding.

The importance of recognizing EDS lies in its impact on quality of life. Early diagnosis and intervention can significantly improve outcomes, yet the variability in symptoms often leads to misdiagnosis. It’s crucial to remember the individuals behind the diagnoses, each facing unique challenges and requiring personalized care. By broadening our understanding of EDS, we advocate for a more informed and compassionate approach to healthcare.

The Many Forms of EDS

The Ehlers-Danlos Syndrome comprises over 13 distinct types, each defined by its own set of symptoms and genetic markers. This diversity reflects the complexity of the connective tissue disorders encompassed within the EDS spectrum. From the more common hypermobile EDS to the exceedingly rare dermatosparaxis type, the variability in EDS presentations underscores the necessity for personalized approaches to diagnosis and treatment. Understanding the spectrum is not just about recognizing the differences but also about appreciating the shared challenges faced by those with EDS. So many of us suffer from chronic pain, fatigue, and a myriad of comorbid (existing together) conditions.

The categorization of EDS into various types has evolved over the years, with the most recent classification introduced in 2017. This update not only refined diagnostic criteria but also highlighted the need for ongoing research. Such efforts are crucial for developing targeted therapies and improving management strategies. As we delve into the specifics, it’s important to remember that each type requires a nuanced understanding to support those affected.

Hypermobile EDS (hEDS)

Hypermobile EDS is the most prevalent form of the syndrome. Its is characterized primarily by joint hypermobility, skin that stretches more than usual, and a tendency toward dislocations and chronic pain. Despite its commonality, hEDS remains one of the most challenging types to diagnose due to the lack of a definitive genetic marker. The diagnosis relies heavily on clinical assessment, including the Beighton score, a system used to quantify joint laxity and hypermobility.

The management of hEDS focuses on mitigating symptoms and improving quality of life. Physical therapy plays a crucial role in strengthening muscles around joints to prevent dislocations and manage pain. Pain management strategies may include medications, but many individuals find relief through lifestyle adjustments and complementary therapies. The variability in symptom severity and impact emphasizes the importance of a personalized care plan. This further underscores the need for a multidisciplinary approach to treatment. As research continues to uncover the intricacies of hEDS, the hope is that more specific treatments and support mechanisms can be developed.

Classical EDS (cEDS)

Classical Ehlers-Danlos Syndrome is notably characterized by the skin’s extreme elasticity and a propensity to bruise and scar easily. Individuals with cEDS experience a skin texture that’s soft and dough-like, capable of being stretched much further than normal. This type of EDS is also marked by widened, atrophic scars that form over pressure areas. The genetic basis for cEDS lies in mutations in the COL5A1 or COL5A2 genes. These play a critical role in the production of type V collagen. This collagen is a key component of the connective tissue in the skin, ligaments, and organs.

Management of cEDS focuses on preventing injuries and managing symptoms. Due to the skin’s fragility, individuals are advised to avoid activities that could lead to bruising or wounding. When injuries occur, wound care becomes essential to minimize scarring. Beyond physical symptoms, cEDS can significantly impact an individual’s quality of life. Often necessitating a supportive approach that addresses both physical and emotional well-being. The collaborative care from dermatologists, geneticists, and psychologists plays a crucial role in providing comprehensive support for those with cEDS.

Vascular EDS (vEDS)

Vascular EDS, considered the most severe form of Ehlers-Danlos Syndrome and poses significant risks due to its impact on blood vessels and internal organs. Individuals with vEDS have a predisposition to spontaneous artery ruptures, aneurysms, and organ perforation, which can lead to life-threatening complications. This type of EDS is caused by mutations in the COL3A1 gene. This gene is responsible for producing type III collagen, a major structural component of blood vessels and the skin, leading to weakened vascular walls.

The management of vEDS is highly focused on monitoring and preventing serious complications. Regular surveillance through imaging tests, such as MRIs or ultrasounds, is critical to detect early signs of arterial or organ abnormalities. Emergency plans and medical alert identification are recommended for individuals with vEDS to ensure prompt treatment in case of acute events. Due to the potential for severe complications, individuals with vEDS often require a team of specialists. This includes cardiologists, vascular surgeons, and genetic counselors, to manage their condition effectively.

It is worth noting that everyone suffering from EDS is encouraged to check for arterial or organ abnormalities. Anecdotal evidence suggests that up to 40% of “sudden heart attacks” can be attributed to EDS.

Myopathic EDS (mEDS)

Myopathic Ehlers-Danlos Syndrome is characterized by muscle weakness at birth, hypotonia (decreased muscle tone), and delayed motor development. These tend to improve in childhood and adolescence. As individuals age, muscle weakness may stabilize or improve, but joint laxity and hypermobility often persist. This leads to challenges in daily activities. This variant is associated with mutations in the COL12A1 gene, which is essential for the formation of type XII collagen. This collagen type interacts with types I and III collagens, playing a crucial role in the structure and function of muscle tissue and tendons. This interplay explains the muscular and connective tissue symptoms seen in mEDS.

The management of myopathic EDS focuses on enhancing muscle strength and joint stability. Physical therapy is a cornerstone of treatment, aimed at improving muscle tone and coordination. Occupational therapy can help individuals adapt to daily activities, promoting independence and quality of life. Given the rarity of mEDS and the variability in symptom presentation, treatment plans are highly individualized. They often require input from a multidisciplinary team that includes neurologists, geneticists, and physical therapists.

This is the variant that yours truly suffers from. I was diagnosed a few years back via a genetic test. I knew something was wrong my whole life, but no one could say specifically what the issue was. For the longest time, we thought of Marfan Syndrome, another connective tissue disorder, but that was not the case. As such I have been a weightlifter my whole life to stabilize my joints. I can say that my muscle tone did markedly improve as a teen. Now in my early 50s, arthritis has set in hard from decades of joint hypermobility.

Living with EDS

Living with Ehlers-Danlos Syndrome, regardless of the type, presents a complex array of challenges that extend beyond the physical symptoms. The conditions can significantly impact emotional well-being, social interactions, and the ability to perform daily tasks. The invisibility of EDS in many cases can lead to misunderstanding and isolation, as others may not recognize the severity of the condition. Building a supportive community, whether through online forums, local support groups, or national EDS organizations, can provide invaluable resources, advice, and a sense of belonging. The sense of isolation can sometimes be overwhelming, especially for the more severe variants.

A multidisciplinary approach to care is essential for managing EDS effectively. This includes regular consultations with healthcare providers knowledgeable about EDS, genetic counseling to understand the hereditary aspects, and mental health support to address the psychological impact of living with a chronic condition. Education and advocacy are also crucial. This allows for empowering individuals and families to advocate for appropriate care and accommodations in school, work, and healthcare settings.

How Many Forms of EDS Are There? A Lot.

Ehlers-Danlos Syndromes encompass a diverse group of connective tissue disorders, each with its unique challenges and manifestations. From the widespread joint hypermobility of hypermobile EDS to the severe vascular complications of vascular EDS, understanding the spectrum of these conditions is crucial for effective management and support. The genetic underpinnings, such as mutations in the COL5A1, COL3A1, and COL12A1 genes for classical, vascular, and myopathic EDS respectively, highlight the complexity and the necessity for tailored approaches to diagnosis and treatment.

Awareness and education about EDS are vital for early diagnosis, which can significantly improve the quality of life for those affected. As we continue to advance our understanding through research, there is hope for more specific and effective treatments in the future. The resilience and strength of the EDS community, coupled with the dedication of medical professionals and researchers, pave the way toward a more informed and supportive environment for individuals living with Ehlers-Danlos Syndromes.

You Are Not Alone

If you or someone you know is navigating the complexities of EDS, resources and communities are available to provide support and information. The largest of which is the Ehlers-Danlos Society (go zebras!) Engaging with these networks can offer comfort, advice, and the latest research findings to those affected by EDS. Let’s continue to support research and advocacy efforts for Ehlers-Danlos Syndrome. Drop me a line if you want to talk as well. I’m an expert and will gladly share my knowledge.

Famous people with EDS

Jameela Jamil – The British actress and activist, known for her role in “The Good Place,” has been vocal about her struggles with EDS and uses her platform to raise awareness about the condition.
Selma Blair – The actress has shared her journey with multiple sclerosis (MS) and recently opened up about her EDS diagnosis.
Cherylee Houston – Known for her role in “Coronation Street,” Houston is an advocate for EDS awareness and shares her experiences living with the condition.
Yvie Oddly – The “RuPaul’s Drag Race” contestant has discussed her experience with hypermobility Ehlers-Danlos Syndrome (hEDS) on the show.
Russell Kane – The British comedian and writer has shared his EDS journey, focusing on joint hypermobility and chronic pain.
Saarah Ahmed – A finalist of Miss Universe Great Britain 2020, who suffered from a rare form of EDS called Kyposcholiotic Ehlers-Danlos Syndrome (Type 6).
Daine – The Filipino-Australian dark pop musician has shared her experiences with EDS in an interview.
Nicole Kidman – The Oscar-winning actress has revealed that she suffers from EDS, experiencing skin issues and joint pain.
Kelly Preston – The late American actress had EDS and passed away in 2020 after a battle with breast cancer.
Mariah Carey, Sarah Jessica Parker, Halle Berry, Kim Kardashian, and Kanye West – These celebrities have also been associated with EDS, sharing their personal health struggles and how it affects their lives.
Sonia Kruger, Camille Guaty, and Tina Malone – These personalities from the entertainment industry have opened up about their diagnoses, contributing to EDS awareness.
Male celebrities including Neil Patrick Harris, Perez Hilton, Ricky Martin, Elton John, and Jimmy Fallon are also mentioned in discussions about EDS, though the context of their connection to EDS varies.