Respiratory Issues in hEDS

Respiratory issues are increasingly recognized as common and clinically significant in individuals with hypermobile Ehlers-Danlos syndrome (hEDS), even though exact prevalence rates remain unclear due to limited large-scale epidemiologic studies. Dyspnea (shortness of breath), especially on exertion, is one of the most frequently reported non-joint symptoms and can significantly affect daily functioning. Studies suggest a two- to threefold increase in respiratory symptoms in people with hEDS compared to healthy controls.

The University of Washington’s GeneReviews guideline includes laryngeal and breathing disorders, including apnea, as clinical features of hEDS, further supporting the high burden of respiratory symptoms in this population.

Common Symptoms

• Exertional dyspnea (shortness of breath during activity)

• General shortness of breath

• Chronic cough and wheezing

• Chest pain or tightness

• Reduced exercise tolerance

These symptoms may compound the effects of fatigue, chronic pain, joint instability, muscle cramps, and allergic or autonomic symptoms already common in hEDS.

Causes of Respiratory Problems in hEDS

The mechanisms behind respiratory symptoms in hEDS are multifactorial, involving both structural and functional contributors.

• Connective Tissue Fragility & Structural Abnormalities: Defects in connective tissue can lead to chest wall deformities (e.g., pectus excavatum or carinatum), scoliosis, and rib subluxations, all of which restrict normal chest expansion and reduce lung capacity.

• Chest Wall Instability: Lax ligaments and joints in the thoracic cage may lead to rib instability, contributing to pain and difficulty with deep breathing.

• Inspiratory Muscle Weakness: Weakness of the diaphragm and accessory breathing muscles is commonly observed and contributes to exertional dyspnea and reduced stamina.

• Increased Airway Collapsibility and Atopy (tendency to develop allergic conditions): A higher prevalence of asthma and allergic conditions is seen in hEDS, driven by both connective tissue laxity in the airways and immune system dysregulation. This results in wheezing, cough, and airway hyperreactivity.

• Dysautonomia and Impaired Ventilatory Control: Conditions such as Postural Orthostatic Tachycardia Syndrome (POTS) can affect breathing regulation. Abnormal autonomic function may cause erratic breathing patterns and poor response to physical stress.

• Impaired Proprioception: Altered perception of breathing effort and lung expansion may disrupt normal breathing rhythms, especially during concentration or emotional stress.

• Mast Cell Activation and Allergic Inflammation: Mast Cell Activation Syndrome (MCAS), often seen in hEDS, can exacerbate respiratory symptoms through allergic airway inflammation and reactivity.

Rare but Serious Respiratory Complications

• Tracheomalacia: Weakness of the tracheal wall leading to airway collapse during breathing.

• Spontaneous Pneumothorax: Sudden lung collapse due to pleural fragility; a medical emergency that may require chest tube placement or surgical intervention.

Symptom Summary

Management and Treatment

Evidence-Based Approaches

• Inspiratory Muscle Training (IMT): Inspiratory Muscle Training (IMT) is a therapeutic exercise program designed to strengthen the muscles used for breathing, particularly the diaphragm and other accessory inspiratory muscles. It typically involves breathing through a handheld device that provides resistance, making the respiratory muscles work harder—similar to how lifting weights strengthens skeletal muscles. Randomized controlled trials show that IMT improves inspiratory muscle strength, lung function, and exercise capacity in individuals with hEDS.

• Multidisciplinary Care 

  • Physical therapy to address posture and chest mobility

  • Respiratory therapy and muscle training

  • Treatment of asthma, allergies, and MCAS

  • Management of autonomic dysfunction (e.g., POTS)

Environmental and Lifestyle Strategies

• Avoiding environmental triggers (allergens, smoke, pollution)

• Using assistive devices to reduce energy expenditure during activity

• Optimizing posture to enhance breathing mechanics

Acute Care

• Prompt treatment for pneumothorax is essential, potentially involving emergency procedures such as thoracostomy (chest tube insertion) or surgery.

Emerging and Theoretical Approaches

• Proprioceptive Retraining and Fascial Therapy: These aim to improve body awareness and breathing coordination; currently under investigation.

• Future Therapies: Interventions targeting connective tissue repair or neuromuscular retraining are being explored but are not yet available.

Summary

Dyspnea and other respiratory symptoms are frequent, disabling, and under-recognized aspects of hEDS. They result from a complex interplay of musculoskeletal abnormalities, autonomic dysfunction, immune dysregulation, and respiratory muscle weakness. Management requires a multidisciplinary approach that addresses both structural and functional contributors. Although research is limited, awareness is growing, and targeted treatments—both established and emerging—hold promise for improving quality of life.