2044 - Children with Ehlers-Danlos Syndrome and Airway Dysfunction

Tuesday, November 8, 2011: 9:00 AM-6:00 PM
Hall F2 - Poster Hall (McCormick Place West)
Sanjay J. Khiani1, Sara Lowe1, Michael Zacharisen1 and Sheetal Vora2, 1Medical College of Wisconsin and the Children's Research Institute, Wauwatosa, WI, 2Medical College of Wisconsin, Milwaukee, WI
Presentation Number: 2044

Background/Purpose:  Adults with hypermobility-type syndromes such as Ehlers-Danlos (EDS) have multiple issues including joint hyper-extensibility, skin laxity/scarring, hearing, voice, speech, and swallowing disorders. Recent reports suggest a predominance of atopy and respiratory symptoms. Such information is not available in children. We report respiratory symptoms in children with EDS that complicates asthma or was erroneously diagnosed as asthma.

Methods:  A series of 5 children with hypermobility-type EDS (1 and 3) presented to allergy/asthma clinic for evaluation of shortness of breath, chest tightness/pain, recurrent croup or chronic cough. At the discretion of their providers, evaluations included radiographic procedures, spirometry, videostroboscopy, rhinoscopy, largyngoscopy, methacholine challenge, airway fluoroscopy, and allergy testing.

 Results: 5 children ages 9-14 years, 3 females, 2 siblings, all had recurrent respiratory symptoms and previously diagnosed as asthma.  All had normal lung function with FEV1 96-124% of predicted. Only 2 had asthma confirmed with either reversible airway obstruction with albuterol or exercise pulmonary function test.  One of these had 50% tracheal collapse and compression by aorta presenting as stridor. Two patients had environmental allergies confirmed by specific in vitro IgE or skin testing. Three patients had paradoxical vocal cord fold motion abnormalities on direct visualization with or without videostroboscopy. One had obstructive sleep apnea with 100% choanal obstruction by adenoid hypertrophy. Four of 5 had been diagnosed with GE reflux and 3 of these patients had g-tube placement and surgical intervention. Two patients had psychological issues such as anxiety and conversion disorder.

Conclusion:  Children with EDS can have recurrent respiratory symptoms due to many etiologies including paradoxical vocal cord dysfunction, airway compression which may be erroneously attributed to asthma and possibly related to the underlying connective tissue abnormality.

Keywords: Ehlers-Danlos syndrome, asthma and pediatric rheumatology

Disclosure: S. J. Khiani, None; S. Lowe, None; M. Zacharisen, None; S. Vora, None.