Shortness of breath: Multiple causes of dyspnea in a woman with Ehlers-Danlos syndrome

Persons with Ehlers-Danlos syndromes or HSD may experience dyspnea (shortness of breath) due to multiple different causes. A comprehensive history and physical examination will narrow the list of potential diagnoses. Diagnostic tests usually involve a chest CT, ventilation/perfusion scan, spirometry, and pulmonary function tests. Pulmonologists, respiratory clinicians, and internists should include Ehlers-Danlos syndromes in their differential diagnosis when evaluating patients presenting with dyspnea. The reader should also consider rare but urgent causes of respiratory failure, including Guillain-Barre syndrome, acute intermittent porphyria, and ALS (amyotrophic lateral sclerosis). The reader is further directed to chapters on voice, fatigue, and apnea, gastroesophageal reflux, cervical instability, and scoliosis.