{"id":265,"date":"2015-12-14T18:37:40","date_gmt":"2015-12-14T18:37:40","guid":{"rendered":"http:\/\/uchealth.com\/pulmonary-insights\/?p=265"},"modified":"2016-10-06T10:23:15","modified_gmt":"2016-10-06T14:23:15","slug":"diffuse-cystic-lung-diseases-definitive-diagnosis-is-essential-for-targeted-treatments","status":"publish","type":"post","link":"https:\/\/www.uchealth.com\/pulmonary-insights\/diffuse-cystic-lung-diseases-definitive-diagnosis-is-essential-for-targeted-treatments\/","title":{"rendered":"Diffuse Cystic Lung Diseases: Definitive Diagnosis is Essential for Targeted Treatments"},"content":{"rendered":"

Diffuse cystic lung diseases (DCLDs) are uncommon and frequently misdiagnosed, in part because there are so many different causes. The most frequently encountered DCLDs in clinical practice are lymphangioleiomyomatosis (LAM), Birt-Hogg-Dub\u00e9 syndrome (BHD), and pulmonary Langerhans cell histiocytosis (PLCH).1<\/sup> But cystic lung disease can also be due to Light Chain Deposition Disease or a rare manifestation of follicular bronchiolitis complicating connective tissue disorders such as Systemic Lupus Erythematosus and Sj\u00f6gren\u2019s Syndrome.2<\/sup> To raise the profile of DCLDs in the pulmonary community and demystify the diagnostic approach, Francis X. McCormack, MD, Director, Division of Pulmonary, Critical Care & Sleep Medicine at the University of Cincinnati Medical Center and Nishant Gupta, MD, Assistant Professor, Department of Internal Medicine at UC Medical Center recently co-authored a comprehensive two-part review in the American Journal of Respiratory and Critical Care Medicine<\/em>.3,4<\/sup> In this interview, the two physicians discussed the primary challenges, pathways to correct diagnosis, and recent scientific developments for the DCLDs.<\/p>\n

\"Lung<\/a>

Key to Images\/Quiz: A: LAM: <\/strong>CT chest showing round, uniform, thin-walled cysts present diffusely with a normal appearing intervening lung parenchyma B: BHD: <\/strong>CT chest showing oval, lentiform cysts with thin walls, predominantly in the basilar regions, and abutting the pleural surface C: PLCH:<\/strong> CT chest showing multiple bizarre shaped cysts of varying sizes, present in an upper lobe predominant distribution D: Sjogren\u2019s syndrome related cystic lung disease:<\/strong> CT chest showing multiple round-oval cysts in a random distribution. Note, that some of these cysts have an eccentric vessel, and some cysts also seem to have internal structures within them.<\/p><\/div>\n

Diagnostic Dilemma<\/strong>
\nBoth clinicians spoke of the difficulty of making an accurate and timely diagnosis due to the rarity of the DCLDs. \u201cThese diseases generally get only limited attention during pulmonary fellowship,\u201d said McCormack. In many cases of DCLD, shortness of breath prompts the clinician to order lung function tests and a chest x-ray, which may well yield few clues as these diseases typically present with a non-specific obstructive pattern and are commonly invisible on a simple radiograph. DCLD patients are often labelled as having asthma or chronic obstructive pulmonary disease (COPD), but often don\u2019t fit the standard profile, as a smoking history may be lacking, and exacerbations and remissions may be absent. This can lead to a delay in diagnosis of up to several years. Clinicians are often resistant to the notion of obtaining CT scans early, dissuaded by normal chest films and the small but measurable radiation exposure risk. In other cases, the incidental finding of multiple cysts on CT scans obtained for unrelated purposes can lead to the search for a diagnosis. Even when a CT scan is obtained and scattered cysts are seen, pulmonary physicians may balk at lung biopsy, since that approach is less familiar for evaluation of DCLDs than for the scarring interstitial lung diseases.
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\nThe Rare Lung Disease Consortium<\/strong>
\n-Network of clinics around the world, based in Cincinnati
\n-Funded by a grant from the National Institutes of Health (NIH)
\n-Identifies scientifically curious clinicians, seeks to refer
\nunusual cases to clinicians so that all members may become
\nmore expert over time
\n-Holds conference calls to share cases,
\nincluding treatments and outcomes
\n-Increases pulmonology knowledge base as it relates
\nto the following lung conditions:<\/p>\n