Understanding Ehlers-Danlos Syndrome Hypermobility Type (EDS-H)

What Is EDS-H and Why Is It Often Missed?

Ehlers-Danlos Syndrome (EDS) is a group of connective tissue disorders. The hypermobility type (EDS-H) is characterized by joint hypermobility, skin differences, and other systemic symptoms. Despite being labeled "rare," EDS-H is more common than many realize, but it often goes undiagnosed or misdiagnosed.

Doctors may dismiss symptoms as anxiety, stress, or normal variations because standard tests often come back normal. This leads to frustration for patients who experience real pain and complications but do not receive the care they need.

Often, there are co-morbid conditions that mimic the symptoms as well. Rheumatologists are in the infusion suite game, making buckets of money in their offices, having patients come in for weekly or monthly biologics. If they diagnose a patient with EDS-H, it is not financially viable for their practice. A low ANA titer with EDS-H symptoms can put a patient on a global lupus score of <6, which would deny them the biologic infusion on their insurance. The 'Do No Harm' principle comes into play as doctors face their ability to treat patients and thrive in a practice.

"I have been diagnosed with EDS-H for over five years, and my rheumatologist has never mentioned my EDS-H, although I have brought it up. She just keeps telling me I need to set up infusion of Benlysta in her office." - a patient.

Recognizing the Signs of EDS-H

If you suspect you might have EDS-H, there are several signs to watch for:

• Soft Skin

People with EDS-H often have unusually soft skin. When someone says, "You have such soft skin," it might seem normal, but this softness is not typical for everyone.

• Healing Differences

Healing can vary widely. Some heal very fast, which can cause abnormal scarring, while others take a long time to heal wounds.

• Abnormal Stretch Marks

Stretch marks may appear with little or no obvious cause. For example, gaining 10 pounds might cause stretch marks that seem disproportionate to the weight change.

• Pain and Growing Pains

Joint and muscle pain are common. What feels like growing pains can persist into adulthood.

• Ineffective Muscle Stretching

Stretching exercises may not relieve pain because the problem lies in loose ligaments, not tight muscles.

• Massages May Not Help

Unlike typical muscle pain, massages might not provide relief and can sometimes worsen discomfort.

• POTS Symptoms

Postural Orthostatic Tachycardia Syndrome (POTS) symptoms, such as dizziness and rapid heartbeat upon standing, often accompany EDS-H.

Soft skin texture typical in EDS-H patients

Why Finding Doctors Who Treat Zebras Is Essential

The most important question to ask any healthcare provider is, "Do you treat zebras?" If the answer is no, you may not get the care you need. Many doctors are unfamiliar with EDS-H and may attribute symptoms to anxiety, stress, or normal test results without further investigation.

Without proper understanding, patients are often left without a diagnosis or treatment plan. This can lead to worsening symptoms and serious complications.

The Risks of Untreated EDS-H

Ignoring or misdiagnosing EDS-H can lead to significant health problems:

• Chronic Pain

Without proper management, joint instability and pain can become debilitating.

• Gastrointestinal Issues

Many EDS-H patients experience digestive problems that require specialized care.

• Cardiovascular Concerns

POTS and other cardiovascular symptoms need monitoring and treatment.

• Increased Injury Risk

Loose ligaments increase the chance of dislocations and injuries.

Early intervention with lifestyle education and chronic care can improve quality of life and prevent complications.

How to Advocate for Yourself as an EDS-H Patient

• Use Online Self-Assessments

Several self-assessment tools are available online to help identify symptoms consistent with EDS-H. https://www.ehlers-danlos.com/heds-diagnostic-checklist/

The reason to get genetic testing for variants of EDS is to rule out more dangerous ones or to distinguish which variant it is, as they are treated differently based on type.

• Document Your Symptoms

Keep a detailed record of your symptoms, healing patterns, and any unusual skin or joint issues.

• Ask Direct Questions

When seeing a new provider, ask if they have experience treating EDS-H or similar connective tissue disorders.

• Seek Specialists

Rheumatologists, geneticists, and cardiologists familiar with EDS-H can provide more targeted care.

• Educate Yourself

Understanding your condition empowers you to make informed decisions and communicate effectively with healthcare providers.

Living with EDS-H: Practical Tips

• Manage Pain Carefully

Use pain management strategies tailored to your needs, including physical therapy focused on joint stability.

• Be Cautious with Exercise

Avoid activities that overstretch ligaments. Focus on low-impact exercises that strengthen muscles without causing injury.

• Monitor Your Skin and Healing

Protect your skin and wounds to prevent complications from abnormal healing.

• Watch for POTS Symptoms

Stay hydrated, avoid sudden position changes, and discuss POTS management with your doctor.

• Connect with Support Groups

Finding others with EDS-H can provide emotional support and practical advice.

Conclusion: The Importance of Awareness and Understanding

Recognizing EDS-H is vital for effective treatment and management. By understanding the signs and advocating for yourself, you can navigate the complexities of this condition. Remember, you are not alone in this journey. There are resources and communities ready to support you. Together, we can challenge the conventional thinking surrounding EDS-H and ensure that zebras receive the care they deserve.