Spontaneous pneumothorax in diffuse cystic lung diseases

Abstract

Purpose of review Diffuse cystic lung diseases (DCLDs) are a heterogeneous group of disorders with varying pathophysiologic mechanisms that are characterized by the presence of air-filled lung cysts. These cysts are prone to rupture, leading to the development of recurrent spontaneous pneumothoraces. In this article, we review the epidemiology, clinical features, and management DCLD-associated spontaneous pneumothorax, with a focus on lymphangioleiomyomatosis (LAM), Birt-Hogg-Dubé syndrome (BHD), and pulmonary Langerhans cell histiocytosis (PLCH). Recent findings DCLDs are responsible for approximately 10% of apparent primary spontaneous pneumothoraces. CT screening for DCLDs (BHD, LAM, and PLCH) following the first spontaneous pneumothorax has recently been shown to be cost-effective and can help facilitate early diagnosis of the underlying disorders. Patients with DCLD-associated spontaneous pneumothorax have a very high rate of recurrence, and thus pleurodesis should be considered following the first episode of spontaneous pneumothorax in these patients, rather than waiting for a recurrent episode. Prior pleurodesis is not a contraindication to future lung transplant. Summary Although DCLDs are uncommon, spontaneous pneumothorax is often the sentinel event that provides an opportunity for diagnosis. By understanding the burden and implications of pneumothoraces in DCLDs, clinicians can facilitate early diagnosis and appropriate management of the underlying disorders.

Birt–Hogg–Dubé syndrome

“…This is much lower than in LAM, in which the risk of pneumothorax has been estimated to be 1000-fold higher than in the general female population [64]. Nevertheless, there are considerable differences in the reported prevalence rates of spontaneous pneumothorax in BHD depending on the cohorts analysed [65], with higher rates in pulmonary cohorts (42-76%) [ [37,67,69]. The recurrence rate was 75-82% with an average number of 3.6 episodes [37,67].…”

Pulmonary manifestations in tuberous sclerosis complex

“…Due to the high prevalence of spontaneous pneumothoraces in LAM, all LAM patients should be educated about the signs and symptoms of a pneumothorax, and counseled to seek immediate medical attention in the event of symptoms characteristic of a spontaneous pneumothorax (Table 2) (Cooley et al, 2017). Given the high recurrence rate, patients with LAM should be offered pleurodesis following the first episode of spontaneous pneumothorax rather than waiting for a recurrent event.…”

“…Patients with LAM are at a very high risk of experiencing cyst rupture, resulting in the development of spontaneous pneumothorax (Figure 2) (Cooley, Lee, & Gupta, 2017). The average age at the time of development of spontaneous pneumothorax in LAM is around 35 years (Almoosa et al, 2006).…”

Simultaneous Bilateral Spontaneous Pneumothorax in an Adult Patient With Pulmonary Langerhans Cell Histiocytosis: A Case Report

“…Approximately 10% of spontaneous pneumothorax cases are caused by diffuse cystic lung diseases like PLCH. 20 Spontaneous pneumothorax is a recognizable feature of PLCH and results from the destruction of lung parenchyma with associated cystic changes. It is more common in younger adults, with an overall incidence of 11% to 15%.…”