Abstract We present a case of a 49-year-old male with a past medical history of morbid obesity, obstructive sleep apnea, and mild intermittent asthma who initially presented to the emergency department in due to dyspnea on exertion, orthopnea, lower extremity edema, wheezing, and a nonproductive cough that had progressively worsened for a month prior to admission. The patient was found to be in acute respiratory failure with hypoxia requiring 4 liters of oxygen supplementation. B-type natriuretic peptide, troponin, and d-dimer were negative; initial chest x-ray revealed cephalization and pulmonary congestion.Echocardiogram was performed and revealed an ejection fraction of 65% with mild left ventricular increased wall thickness, free of diastolic dysfunction. A CT angiogram of the chest revealed bilateral bullous disease, multiple cysts measuring 1cm, which prompted a pulmonary consultation. Treatment was comprised of intravenous diuretics with clinical improvement, without hypoxia on room air, and ultimately transitioned to oral diuretics. With a detailed history, it was discovered that the patient suffered from 2 spontaneous pneumothoraces, the first in 1995 followed by another in 2007, which led to talc pleurodesis. The patient’s family history was also remarkable for his father who previously suffered from a pneumothorax. He followed up as an outpatient and continued the workup that revealed alpha 1 antitrypsin levels to be negative and pulmonary function test demonstrated FEV1/FVC ratio of 86%, FEV1 71% of predicted, positive bronchodilator response, DLCO normal, with flow volume loop indicating restriction, likely secondary to body habitus. During the visit, comprehensive physical exam revealed multiple facial cutaneous lesions suspicious for fibrofolliculomas. HRCT of the chest demonstrated predominant cysts in a distribution suggestive of BHD syndrome. The patient was referred to dermatology for skin biopsy and genetic testing, which confirmed BHD syndrome. Fortunately, this patient was negative for renal malignancy. BHD syndrome is a rare autosomal dominant condition that is an under-recognized and under-diagnosed disorder, particularly in patients who present only with spontaneous pneumothorax or isolated skin lesions without a family history of renal malignancies. Recognizing Birt-Hogg-Dubé syndrome despite a 16-year delay illustrates the enduring value of clinical curiosity, multidisciplinary evaluation, and genetic insight in unraveling rare hereditary conditions. This condition underscores the importance of early recognition to facilitate appropriate surveillance for associated malignancies, most notably renal cell carcinoma. This abstract is funded by: none
Sapone et al. (Fri,) studied this question.