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A6989 - Seeing the Lungs Through Translucent Skin
Author Block: S. B. Church1, M. Viseroi1, K. M. Stern2; 1Internal Medicine, University of California, Irvine, Orange, CA, United States, 2University of California, Irvine, Orange, CA, United States.
Introduction
We present the case of a 43 year old woman with a history of recurrent spontaneous pneumothoraxes and progressive dyspnea on exertion suspected of vascular type Ehlers-Danlos Syndrome (EDS) after she presented to pulmonary clinic for evaluation of dyspnea.
Case presentation
43 year-old female with no significant past medical history except childhood asthma well controlled in adulthood with occasional use of albuterol presented with progressive dyspnea on exertion after a wedge resection for recurrent spontaneous pneumothorax. She reported no associated wheezing and albuterol provided no relief. She denied lower extremity swelling, weight gain, fever, chills, cough and weight loss, sinusitis, epistaxis, anemia, heavy menses, GI bleed, liver or kidney disease. No joint pain or swelling was noted. She did not note any deglutition problems, no skin changes except for easy bruising.
Physical exam revealed a slender woman with thin, translucent skin and acrogeria. Pulmonary exam was remarkable for scattered crackles without wheezing. Musculoskeletal exam revealed hypermobile small joints.
During a 6 minute walk test her SaO2 dropped to 84% correcting to 100% with 2 L supplemental O2. Chest XR was unremarkable. Pulmonary function testing demonstrated an isolated mildly reduced DLCO of 73%, concerning for possible pulmonary vascular disease. CT scan of the chest showed post-surgical changes from pleurodesis and wedge resection over the right lung without evidence of emphysema or fibrosis. Echocardiogram did not show structural abnormalities or evidence of pulmonary hypertension. Right heart catheterization was done to further evaluate for intra-cardiac shunt and possible pulmonary hypertension but was normal. Subsequently echocardiogram with bubble study was positive after a six beat delay consistent with intrapulmonary shunt secondary to AVM not seen on the previous CT scan.
Discussion
While pulmonary AVMs are associated with several genetic disorders, classically Hereditary Hemorrhagic Telangiectasia, they are not a typical finding associated with EDS. Moreover, recurrent spontaneous pneumothorax is not a typical initial presentation for EDS. Vascular type EDS is an inherited connective tissue disorder that is caused by defects in collagen. It is generally considered the most severe form of EDS. Common symptoms include thin, translucent skin; easy bruising; characteristic facial appearance, fragile arteries, muscles and internal organs.
In summary, EDS should be considered in the differential diagnostic of a young patient with unexplained dyspnea with hypoxia and spontaneous recurrent pneumothorax and should prompt further work-up.