Today in Pulmonary Report, the Emily Olson series continues with a case of cystic lung disease. Today, Emily described the management of a young woman with recurrent secondary spontaneous pneumothorax, found to have cystic lung disease.
First-year PCCM fellow Emily Olson (@EmilyOlsonMD)
Before we dive into today’s report, we encourage you to take this opportunity for some retrieval practice from prior NU PCCM blog posts:
For review, here are the blog posts associated with polls above
- A case of cystic lung disease in patient with Sjogren’s syndrome from ILD Roundup last July.
- Management of secondary spontaneous pneumothorax with delayed resolution (Leak for a week!) from Emily’s Morning Report last August
- A case of secondary spontaneous pneumothorax from cystic lung disease from Ale’s Morning Report last September
Alright! Now that the knowledge is fresh, let’s dive in! First, we discussed definitional criteria and a differential diagnosis (1) of cystic lung disease:
Another outstanding quick reference on this topic is Nick Mark’s OnePager (2):
Emily outlined the pragmatic 5-step approach described by Raoof et al.
Further refinement of differential involves considering the apicobasilar gradient of illness:
Emily’s case presented a bit of a diagnostic dilemma – LAM was clinically suspected but VEGF testing performed and unrevealing. Patient ultimately proceeded to VATS resection of a peripheral cyst/bulla, but pathology was inconclusive. This brought up an important discussion point – does it really matter if we know that cause?
Revealing cause of cystic lung disease may have important management implications for our patients:
- Genetic inheritance of cystic lung diseases and multi-system illnesses associated. Genetic counseling/sequencing may be indicated
- Differential considerations for cystic lung diseases include metastatic malignancies and certain infectious processes with specific management
Dr. Russell also brought up the higher risk of malignancy in patients with Birt-Hogg-Dube (BHD) specifically – particularly colorectal cancer. Recall also from Ale’s morning report – 7x risk of RCC, screening with annual ultrasound in US. BHD, which follows an AD inheritance pattern, may be confirmed by genetic testing revealing a mutation in the FLCN gene, although testing may not be covered by insurance.
Dr. Singer also mentioned the NEJM study (3) that found sirolimus to be associated with stabilization of lung function and improved quality of life in patients with Lymphangioleiomyomatosis (LAM).
Some take-home points:
Thanks for an outstanding discussion, Emily!
Sources:
- PMID: 31704148 / DOI: 10.1016/j.chest.2019.10.017
- https://onepagericu.com/cystic-lung-disease
- PMID: 21410393 / DOI: 10.1056/NEJMoa1100391