Prevalence of Birt–Hogg–Dubé syndrome in patients with apparently primary spontaneous pneumothorax

Johannesma, Paul C; Reinhard, Rinze; Kon, Yujiro; Sriram, J.D.; Smit, Hans; Moorselaar, R. Jeroen A. van; Menko, Fred H.; Postmus, P.E.

doi:10.1183/09031936.00196914

Cited by 72 publications

(44 citation statements)

References 10 publications

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“…Recently, two separate studies have shown that BHD can be the underlying cause of 5–10% of apparent primary spontaneous pneumothoraces (61, 62). The prevalence of spontaneous pneumothorax in BHD varies substantially between different reports, based on the mode of ascertainment (renal and/or dermatologic cohorts versus pulmonary cohorts).…”

Section: Introductionmentioning

confidence: 99%

Spontaneous pneumothorax in diffuse cystic lung diseases

Cooley

Lee

Gupta

2017

Current Opinion in Pulmonary Medicine

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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.

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Section: Introductionmentioning

confidence: 99%

Spontaneous pneumothorax in diffuse cystic lung diseases

Cooley

Lee

Gupta

2017

Current Opinion in Pulmonary Medicine

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“…The presence of spontaneous pneumothorax in a young patient, especially with a personal or family history of pneumothorax, skin lesions, or renal tumors, should prompt an evaluation for BHD. The prevalence of BHD among young patients presenting to the emergency 4C/FPO ward with pneumothorax may be as high as 5 to 10%, based on studies from China and Holland (16,17). A detailed skin examination should be performed, as many patients with BHD will have characteristic skin fibrofolliculomas ( Figure 1C) or trichodiscomas (4).…”

Section: Cystic Lung Diseases Associated With Genetic Mutationsmentioning

confidence: 99%

Diffuse Cystic Lung Disease. Part II

Gupta

Vassallo

Wikenheiser-Brokamp

et al. 2015

Am J Respir Crit Care Med

128

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The diffuse cystic lung diseases have a broad differential diagnosis. A wide variety of pathophysiological processes spanning the spectrum from airway obstruction to lung remodeling can lead to multifocal cyst development in the lung. Although lymphangioleiomyomatosis and pulmonary Langerhans cell histiocytosis are perhaps more frequently seen in the clinic, disorders such as Birt-Hogg-Dubé syndrome, lymphocytic interstitial pneumonia, follicular bronchiolitis, and light-chain deposition disease are increasingly being recognized. Obtaining an accurate diagnosis can be challenging, and management approaches are highly disease dependent. Unique imaging features, genetic tests, serum studies, and clinical features provide invaluable clues that help clinicians distinguish among the various etiologies, but biopsy is often required for definitive diagnosis. In part II of this review, we present an overview of the diffuse cystic lung diseases caused by lymphoproliferative disorders, genetic mutations, or aberrant lung development and provide an approach to aid in their diagnosis and management.

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“…Our results indicate that the strategy of HRCT screening for diffuse cystic lung diseases remains cost effective at disease prevalence greater than 0.01%, which would almost certainly be the case for diffuse cystic lung diseases in all age groups. Thus, on the basis of prior work demonstrating the high prevalence of diffuse cystic lung diseases in young patients presenting with an apparent primary spontaneous pneumothorax (6)(7)(8), the overall prevalence of common and uncommon underlying lung disorders in older patients with a first pneumothorax, and our results demonstrating the costeffectiveness of screening chest CT in the entire population, we submit that adult patients of all ages with an apparent primary spontaneous pneumothorax should undergo a screening chest CT examination to evaluate for the presence of underlying BHD, LAM, and PLCH.…”

Section: Original Researchmentioning

confidence: 99%

“…Studies from China and Holland have shown that BHD is found in 5-10% of patients in those countries presenting with an apparent primary spontaneous pneumothorax (6,7). The prevalence of LAM has been estimated to be greater than 5% in the restricted demographic of nonsmoking women aged between 25 and 54 years presenting with an apparent primary spontaneous pneumothorax (8).…”

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confidence: 99%

Chest Computed Tomographic Image Screening for Cystic Lung Diseases in Patients with Spontaneous Pneumothorax Is Cost Effective

et al. 2017

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Rationale: Patients without a known history of lung disease presenting with a spontaneous pneumothorax are generally diagnosed as having primary spontaneous pneumothorax. However, occult diffuse cystic lung diseases such as Birt-Hogg-Dubé syndrome (BHD), lymphangioleiomyomatosis (LAM), and pulmonary Langerhans cell histiocytosis (PLCH) can also first present with a spontaneous pneumothorax, and their early identification by high-resolution computed tomographic (HRCT) chest imaging has implications for subsequent management.Objectives: The objective of our study was to evaluate the costeffectiveness of HRCT chest imaging to facilitate early diagnosis of LAM, BHD, and PLCH.Methods: We constructed a Markov state-transition model to assess the cost-effectiveness of screening HRCT to facilitate early diagnosis of diffuse cystic lung diseases in patients presenting with an apparent primary spontaneous pneumothorax. Baseline data for prevalence of BHD, LAM, and PLCH and rates of recurrent pneumothoraces in each of these diseases were derived from the literature. Costs were extracted from 2014 Medicare data. We compared a strategy of HRCT screening followed by pleurodesis in patients with LAM, BHD, or PLCH versus conventional management with no HRCT screening. Measurements and Main Results:In our base case analysis, screening for the presence of BHD, LAM, or PLCH in patients presenting with a spontaneous pneumothorax was cost effective, with a marginal cost-effectiveness ratio of $1,427 per quality-adjusted lifeyear gained. Sensitivity analysis showed that screening HRCT remained cost effective for diffuse cystic lung diseases prevalence as low as 0.01%. Conclusions:HRCT image screening for BHD, LAM, and PLCH in patients with apparent primary spontaneous pneumothorax is cost effective. Clinicians should consider performing a screening HRCT in patients presenting with apparent primary spontaneous pneumothorax.

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Prevalence of Birt–Hogg–Dubé syndrome in patients with apparently primary spontaneous pneumothorax

Cited by 72 publications

References 10 publications

Spontaneous pneumothorax in diffuse cystic lung diseases

Spontaneous pneumothorax in diffuse cystic lung diseases

Diffuse Cystic Lung Disease. Part II

Chest Computed Tomographic Image Screening for Cystic Lung Diseases in Patients with Spontaneous Pneumothorax Is Cost Effective

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