Abstract Introduction Birt-Hogg-Dube (BHD) is a rare autosomal dominant condition characterized by renal tumors, skin lesions, and diffuse lung cysts with preserved pulmonary function, albeit with a high risk of recurrent spontaneous pneumothorax. We report about a patient with suspected BHD without cutaneous manifestations, who succumbed to death after a motor vehicle accident (MVA) due to evolving acute respiratory distress syndrome (ARDS), notably without developing a pneumothorax. Description Imaging of an 82-year-old female involved in an MVA revealed extensive emphysematous lung changes with multiple cysts, bullae, blebs, and pneumatoceles (largest in the right middle lobe measuring 6.5cm x 5cm), with bilateral (B/L) pulmonary edema and lower lung atelectasis. The presence of subpleural blebs and multiple B/L thin-walled cysts of varying shapes and sizes predominantly in middle to lower zones of lungs, along with personal history of a spontaneous pneumothorax and family history of cystic lung disease in all 3 of her sons, were all suggestive of BHD. She required mechanical ventilation for ARDS. Since there is no cure for BHD, focus was on supportive treatment and lung-protective ventilation with low tidal volume and avoiding peak pressures above 25mmHg, given the propensity for pneumothorax. Positive fluid balance was targeted with diuresis and halting dexmedetomidine drip. Over the course of 14 days, she was extubated twice to bilevel positive airway pressure ventilation with minimal inspiratory/expiratory pressures. Patient developed post-extubation pneumonia and underwent a second intubation owing to increasing secretions and respiratory distress with shock. The family had requested a second trial of extubation before tracheostomy. Ultimately, she was re-intubated for the third time and succumbed to death. Discussion Besides the ventilation/perfusion mismatch from lung contusions underlying the severe ARDS, other factors that predisposed to decreased respiratory reserve included old age, BMI of 33kg/m2, extensive cystic lung disease at baseline, basilar atelectasis, and chest pain with rib fractures from trauma requiring nerve block with ropivacaine. This patient with a 20-pack-year history of smoking and multiple renal cysts, did not have an established pulmonologist. Smoking predisposes to increased severity of cystic lung changes. Diagnosis of BHD is often delayed as skin lesions aren’t always present, lack of physician awareness, and lack of pulmonary symptoms until development of a pneumothorax. Earlier diagnosis allows for earlier interventions like patient education, smoking cessation, genetic counselling, advise against air travel or scuba diving, regular surveillance for malignant renal tumors, nephron-sparing surgery, and pleurodesis after the initial episode of pneumothorax. This abstract is funded by: None
Nehete et al. (Fri,) studied this question.