"No other condition in the history of modern medicine has been neglected in such a way as Ehlers-Danlos syndrome".

-Dr Rodney Grahame

“I believe that Ehlers Danlos Syndrome and hypermobility disorders are some of the most misdiagnosed and misunderstood conditions of our time..it’s time to change that narrative”

- Professor Laura Bloom President and CEO of Ehlers Danlos Society

What is Hypermobile Ehlers-Danlos Syndrome (hEDS)?

hEDS is a connective tissue disorder and the most common form of Ehlers Danlos Syndrome. Characterized by joint hypermobility, skin elasticity, and tissue fragility. Individuals living with hEDS often experience chronic pain, frequent joint dislocations, and fatigue, significantly impacting their daily lives. Simple activities can become daunting, as the risk of injury looms with every movement.

What causes hEDS? Hypermobile Ehlers-Danlos Syndrome (hEDS) is primarily caused by genetic mutations that affect the collagen and connective tissue components in the body. These mutations lead to hypermobility in the joints, resulting in an increased range of motion and a higher risk of joint dislocations and pain. While the specific genetic factors associated with hEDS are still being researched, it is understood that the condition often runs in families. Individuals with hEDS may also experience various symptoms, including skin elasticity, vascular fragility, and a predisposition to injury, further complicating the clinical picture of this syndrome.

What is the impact of hEDS? Hypermobile Ehlers-Danlos Syndrome (hEDS) affects every system of the body due to its impact on collagen synthesis, leading to systemic manifestations. As collagen is a fundamental component of connective tissues, its deficiencies can result in complications across various organs and systems, including the musculoskeletal, cardiovascular, and gastrointestinal systems. While many individuals with hEDS lead active lives, others may be very limited, reliant on caregivers, braces and mobility aids. This condition can be associated with a range of comorbidities that can significantly impact daily functioning and quality of life. Many people with hEDS experience gastrointestinal problems, gastroparesis, SIBO, including irritable bowel syndrome (IBS), gastroesophageal reflux disease (GERD), and delayed gastric emptying. In addition to gastrointestial problems, individuals with Hypermobile Ehlers-Danlos Syndrome (hEDS) often experience a range of comorbidities, with Postural Orthostatic Tachycardia Syndrome (POTS) and Mast Cell Activation Syndrome (MCAS) being particularly common. Understanding the interplay between these conditions is essential for effective management and improved patient outcomes.

Treatment for hEDS

There is technically no treatment of hEDS as it is caused by a genetic mutation. Treatment should focus on managing symptoms through a multidisciplinary approach tailored to the individual’s needs. This may include:

• Physical Therapy: Strengthening muscles around hypermobile joints can help improve stability and reduce pain.

• Pain Management: A combination of medication, physical therapy, and alternative therapies can be beneficial.

• Dietary Adjustments: Addressing gastrointestinal symptoms through dietary changes and working with a nutritionist may improve quality of life.

• Medication:

• Mental Health Support: Counseling and support groups can provide essential emotional support and coping strategies.

• Addressing the overlap of hEDS with POTS and MCAS . Understanding hypermobile Ehlers-Danlos Syndrome and its associated comorbidities is crucial for effective management and a multidiciplinary approach is often required for improved quality of life. Those living with hEDS should seek comprehensive care that addresses both the physical and emotional aspects of the condition. Proper evaluation by specialists in autonomic disorders and allergy/immunology is crucial for accurate diagnosis and tailored treatment plans. Treatment may include medications to stabilize heart rate and blood pressure in POTS, as well as antihistamines or mast cell stabilizers for MCAS. Lifestyle Adjustments: Increased fluid and salt intake, compression garments, and specific dietary changes can help manage symptoms of both POTS and MCAS.

Medical Community Response to hEDS

Unfortunately, the medical community often lacks awareness and understanding of hEDS, leading to misdiagnosis or delays in care. Many patients find themselves navigating a maze of healthcare providers who may dismiss their symptoms or attribute them to other conditions, exacerbating feelings of frustration and isolation. This lack of recognition can take a toll on mental health, as individuals may struggle with anxiety, depression, and feelings of inadequacy due to their condition. The invisible nature of hEDS can leave patients feeling unheard and invalidated, making it crucial for both awareness and education to improve the quality of life for those affected. Advocacy for better understanding in the medical field can empower patients and promote more effective treatment options, fostering a supportive environment for those living with hEDS. The chronic nature of hEDS and its comorbidities can lead to mental health challenges, including anxiety and depression. Emotional support and therapy can be vital components of management.

The Pentad Supersyndrome