Ehlers-Danlos Syndrome Presenting as Airway Obstruction and Hoarseness

Abstract

Ehlers-Danlos syndrome is an autosomal dominant genetic defect in connective tissue synthesis and structure. The genetic disorder is classified into six major types based on clinical signs and symptoms as well as genetic testing. We describe the case of a 42-year-old female who presents with dyspnea and hoarseness. After an anterior glottic web was discovered, the attempts to remove the web created excess scarring. She was referred to a geneticist and diagnosed with classic Ehlers-Danlos syndrome and showed signs of vascular type. Genetic disorders should be considered in differentials when poor healing or abnormal scarring occurs post surgery.

Immersion pulmonary oedema: a cardiological perspective

“…The lack of rigidity of the airway in Ehlers Danlos syndrome can cause dynamic extrathoracic airway obstruction. [37][38][39] Dynamic extrathoracic airway obstruction causes the greatest limitation of flow during inspiration, when subatmospheric intraluminal pressure draws the obstructing lesion inward, reducing the diameter of the airway lumen. 40 It can cause pulmonary oedema unconnected with immersion.…”