Shortness of Breath in hEDS

Introduction

Shortness of breath, or dyspnea, is a frequently reported but often misunderstood symptom in people with hypermobile Ehlers-Danlos syndrome (hEDS). While the condition is best known for affecting joints and connective tissues, many individuals also struggle with breathing difficulties that interfere with daily life, physical activity, and emotional well-being. These symptoms are commonly overlooked or misattributed to anxiety or deconditioning, but in reality, they stem from a complex interplay of physical and neurological factors related to hEDS. Understanding the causes and available treatments is essential for improving comfort, function, and quality of life.

Prevalence

• Shortness of breath affects at least 30–50% of people with hEDS, though actual rates may be higher.

• More commonly diagnosed in females; symptoms may be missed or misattributed in males, children, and people of color.

• May be dismissed as asthma, anxiety, or poor conditioning, especially in pediatric patients who don’t verbalize it directly.

Causes

• Weak Breathing Muscles

  • People with hEDS often have reduced strength in the diaphragm and other muscles used to inhale.

  • This makes breathing harder, especially with activity or effort.

• Chest and Airway Instability

  • Structural problems like scoliosis, pectus deformities, or unstable ribs can restrict chest movement.

  • Connective tissue laxity may lead to upper or lower airway collapse, making breathing inefficient.

• Autonomic Dysfunction (POTS)

  • Postural orthostatic tachycardia syndrome (POTS) is common in hEDS and causes dizziness, rapid heartbeat, and breathlessness when standing or exerting.

  • Symptoms worsen with heat, dehydration, or fatigue.

• Proprioceptive and Neurological Disruption

  • People with hEDS often have impaired body awareness, which can affect breathing rhythm and coordination.

  • The brain may misinterpret breathing signals, leading to shallow or erratic patterns.

• Comorbid Conditions

  • Asthma or asthma-like symptoms may be present.

  • Mast cell activation syndrome (MCAS) can cause airway inflammation and irritation.

  • Anxiety can amplify the sensation of breathlessness or trigger hyperventilation.

  • Deconditioning from inactivity worsens symptoms over time.

Symptoms

Individuals with hEDS and dyspnea may report

• Shortness of breath during light or moderate activity

• Shallow or rapid breathing

• Chest tightness or discomfort

• Pain with deep inhalation

• Wheezing, cough, or noisy breathing

• Breathlessness that worsens when upright or under stress

• Fear of activity or avoidance of exertion

• In children: exercise avoidance, fatigue, or complaints of being "tired all the time"

Treatments

Non-Medication Interventions (First-Line)

These are typically the most effective starting point

• Inspiratory Muscle Training (IMT): A handheld device strengthens the diaphragm and breathing muscles; improvements often seen in 6–8 weeks.

• Breathing Retraining: Diaphragmatic, paced, or pursed-lip breathing helps normalize breathing rhythm and reduce air hunger.

• Pulmonary Rehabilitation: Combines exercise, education, and breathing strategies to build stamina and confidence.

• Physical Therapy: Focuses on posture, chest wall support, and core strength to improve breathing mechanics.

• Speech Therapy: For inducible laryngeal obstruction (ILO), retrains throat muscles that may block airflow during breathing.

• Cognitive-Behavioral Therapy (CBT): Helps manage anxiety and fear of breathing symptoms.

Medications (When Indicated)

• Asthma Treatment: Inhaled corticosteroids or bronchodilators only if asthma is confirmed.

• MCAS Management: Antihistamines, leukotriene blockers, or mast cell stabilizers for airway inflammation.

• POTS Therapies: Salt and fluid loading, compression garments, beta-blockers, or fludrocortisone to improve circulation.

• Morphine (Rare): Low-dose, sustained-release morphine may be used in severe, persistent dyspnea as a last resort under close supervision.

Other Considerations

Psychological Impact

• Anxiety, hypervigilance, and fear of movement are common and can worsen dyspnea.

• Emotional support, validation, and behavioral strategies are essential for long-term management.

Pediatric Considerations

• Children may not express breathlessness directly.

• Look for physical avoidance, fatigue, or reluctance to participate in physical education.

• Early intervention helps maintain activity levels and prevent worsening symptoms.

When to Reevaluate

• If symptoms worsen or interfere with daily life

• If standard asthma treatments aren’t helping

• If dyspnea occurs at rest or disrupts sleep

• If symptoms are accompanied by dizziness, chest pain, or fainting

Summary

Shortness of breath is a common and often overlooked symptom in people with hypermobile Ehlers-Danlos syndrome. It typically arises from a combination of factors, including weak breathing muscles, structural abnormalities in the chest and airways, autonomic dysfunction like POTS, impaired body awareness, and overlapping conditions such as asthma, mast cell activation syndrome, and anxiety. For many patients, these symptoms are misattributed to poor fitness or emotional stress, which delays effective treatment and contributes to frustration and reduced quality of life.

Fortunately, shortness of breath in hEDS is treatable. Non-medication strategies—such as inspiratory muscle training, breathing retraining, postural physical therapy, and cognitive-behavioral support—are often the most effective first steps. Medications can be helpful in specific situations, especially when conditions like asthma or MCAS are clearly contributing. With the right combination of therapies, many individuals with hEDS can improve their breathing, regain stamina, and feel more in control of their symptoms.

Early recognition, a personalized treatment plan, and ongoing support make a significant difference in managing this challenging but manageable symptom.