Literature DB >> 30888864

Isolated Cystic Lung Disease: An Algorithmic Approach to Distinguishing Birt-Hogg-Dubé Syndrome, Lymphangioleiomyomatosis, and Lymphocytic Interstitial Pneumonia.

Joanna G Escalon1,2, John C Richards1, Tilman Koelsch1, Gregory P Downey3,4,5,6,7, David A Lynch1.   

Abstract

OBJECTIVE: Birt-Hogg-Dubé (BHD) syndrome, lymphangioleiomyomatosis (LAM), and lymphocytic interstitial pneumonia (LIP) frequently present as isolated cystic lung disease and can be challenging to distinguish. If imaging findings are otherwise unremarkable, the radiologist is unaided by ancillary CT findings in narrowing the diagnosis. We hypothesized that the distribution and morphologic features of lung cysts could be used to differentiate BHD syndrome, LAM, and LIP. Therefore, the purpose of this study was to characterize the CT appearances of these conditions and create a practical CT-based algorithm to differentiate among them.
MATERIALS AND METHODS: The study was a retrospective review of the CT images of 16 patients with BHD syndrome, 17 patients with LAM, and 14 patients with LIP. On the basis of the data collected, a CT-based algorithm was created, and the CT images were reviewed again.
RESULTS: Lower lung-predominant cysts were significantly more likely to be found in patients with BHD syndrome (100% of patients) or LIP (71-93% of patients) than in patients with LAM (6-12% of patients), who were more likely to have diffuse cysts. Compared with patients with LIP or LAM, patients with BHD syndrome were significantly more likely to have elliptical (floppy) paramediastinal cysts (88-94% of patients with BHD syndrome, 36-43% of patients with LIP, and 6-12% of patients with LAM) or a disproportionate number of paramediastinal cysts (69-88% of patients with BHD syndrome, 0-14% of patients with LIP, and 0-6% of patients with LAM). Our algorithm enabled differentiation of BHD syndrome, LAM, and LIP with a high level of accuracy and high interreader agreement (κ = 0.809).
CONCLUSION: Radiologists can use the proposed CT-based algorithm to prospectively and confidently suggest one of these disorders as the favored diagnosis. Of importance, this will allow diagnosing the disorder early and accurately, screening for comorbidities, and prevention of potential complications.

Entities:  

Keywords:  Birt-Hogg-Dubé syndrome; cystic lung disease; lymphangioleiomyomatosis; lymphocytic interstitial pneumonia

Year:  2019        PMID: 30888864     DOI: 10.2214/AJR.18.20920

Source DB:  PubMed          Journal:  AJR Am J Roentgenol        ISSN: 0361-803X            Impact factor:   3.959


  7 in total

1.  Lymphocytic interstitial pneumonia: computed tomography findings in 36 patients.

Authors:  Guilherme Felix Louza; Luiz Felipe Nobre; Alexandre Dias Mançano; Bruno Hochhegger; Arthur Soares Souza; Gláucia Zanetti; Edson Marchiori
Journal:  Radiol Bras       Date:  2020 Sep-Oct

2.  Is the Cyst-Airway Communicating Index a Possible Tool to Differentiate Cystic Lung Diseases?

Authors:  Jonathan H Chung
Journal:  Radiol Cardiothorac Imaging       Date:  2020-04-30

3.  Characterization of CT scans of patients with Birt-Hogg-Dubé syndrome compared with those of Chinese patients with non-BHD diffuse cyst lung diseases.

Authors:  Wenshuai Xu; Zhiyan Xu; Yaping Liu; Yongzhong Zhan; Xin Sui; Ruie Feng; Min Peng; Xue Li; Jun Wang; Shuzhen Meng; Li Wang; Xinlun Tian; Xue Zhang; Kai-Feng Xu
Journal:  Orphanet J Rare Dis       Date:  2020-07-06       Impact factor: 4.123

4.  Cystic lung disease in Birt-Hogg-Dubé syndrome. A case series.

Authors:  Vasilios Tzilas; Dimitrios Sgouros; Zannis Almpanis; Demosthenes Bouros; Argyrios Tzouvelekis
Journal:  Respir Med Case Rep       Date:  2020-05-06

5.  Birt-Hogg-Dubé Syndrome presenting with chronic progressive dyspnea.

Authors:  David Reilly; Lila Pourzand; Chidinma Chima-Melton
Journal:  Respir Med Case Rep       Date:  2021-03-27

Review 6.  Genodermatoses - Opportunities for Early Detection and Cancer Prevention.

Authors:  Helena Carley; Anjana Kulkarni
Journal:  Curr Genet Med Rep       Date:  2022-10-04

7.  Thyroid Rosai-Dorfman disease with infiltration of IgG4-bearing plasma cells associated with multiple small pulmonary cysts.

Authors:  Pietro Gianella; Nicolas Dulguerov; Grégoire Arnoux; Marc Pusztaszeri; Jörg D Seebach
Journal:  BMC Pulm Med       Date:  2019-05-03       Impact factor: 3.317

  7 in total

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