Thanks to everyone who chimed in for our first HUP intern intake report, and to Nilan Schnure for presenting the case of a 65 year old woman who presented with months of intermittent fevers, progressive pancytopenias and oral ulcers.
This was a difficult case and is still ongoing, but we decided to focus our differential around her oral ulcers.
There are two flavors of DIC- acute and chronic. The latter is associated with vascular malformations (aneurysms, hemangiomas), liver disease and malignancies, while the former is more common and related to sepsis, acute leukemia, trauma, etc.
Oral ulcers can stem from a variety of infectious (HIV, HSV, Coxsackie), inflammatory (SLE, Crohn’s, Behcet’s, Sjogren’s) and nutritional (Vit C deficiency) conditions (and don’t forget benign recurrent aphthous stomatitis).
Basic labs like LDH, haptoglobin and especially a reticulocyte count can help you decide whether pancytopenia is peripheral or marrow-related in origin.
Porter et al. Oral ulcers and their relevance to systemic disorders. Aliment Pharmacol Ther. 2005. PMID 15709981
Today we talked about a young woman with worsening dyspnea on exertion and a history of pneumothorax, with diffuse cystic lesions on chest CT and was ultimately diagnosed with LAM (lymphangioleiomyomatosis)!
LAM can be either sporadic or associated with tuberous sclerosis
LAM is mediated by LAM cells which are smooth muscle cells of unknown origin that infiltrate various organs/tissues, particularly lymphatic channels and capillary beds- they then lodge there and cause ‘frustrated lymphangiogenesis’, leading to cystic remodeling in the lung
~35% of patients who are ultimately diagnosed with LAM present with pneumothorax; almost without exception, they are female and tend to present in their 30s (pathogenesis thought to be driven by estrogen). They can also present with chylous effusions and chylous ascites.
The 2011 MILES trial in NEJM showed that sirolimus stabilizes FVC and functional performance in LAM (see graph below) during the 1-year treatment phase.
Ultimately the only treatment is lung transplant; LAM has been known to (rarely) recur in the transplanted lung
Lastly, remember that there are lots of cystic lung diseases (algorithm below), and knowing how to differentiate cysts vs cavities vs bullae can help you hone down your differential.
Gupta et al. Diffuse cystic lung diseases, part I. AJRCCM. PMID 25906089. (there’s also a part II)