| Print Date: | May 25, 2013, 7:01 am |
| Title | Spontaneous pneumothorax secondary to pulmonary lymphangioleiomyomatosis (LAM) |
| Text | Pulmonary LAM is a rare lung disease affecting women of reproductive age. The main feature of the disease is proliferation of pulmonary interstitial smooth muscle cells. Patients typically present with dyspnea, and may also have cough and chest pain. Median survival is 8 to 10 years from diagnosis although patients may benefit from hormonal therapy, oophorectomy, and lung transplantation. Complications of LAM include spontaneous pneumothorax, chylothorax, chyloperitoneum, chyluria, renal angiomyolipomas, hemoptysis, and meningioma.
LAM may be a limited form of tuberous sclerosis. As noted in Factoid 6408, tuberous sclerosis is a genetic neurocutaneous disorder that is autosomal dominant in the one-third of familial cases. It is either due to spontaneous mutation or mosaicism in non-familial cases. The defect is in the TSC1 (chromosome 9) and TSC2 (chromosome 16p) genes, which code for the proteins hamartin and tuberin respectively, although the functions of these proteins are as yet unknown. TS manifests with multi-organ involvement, with dermatologic features including hypopigmented lesions (ash-leaf spots) and connective tissue nevi (Shagreen patch), and CNS involvement including periventricular calcifications and seizure disorders, often with severe learning difficulties, mental retardation, and autism. Pulmonary manifestions often show an obstructive pattern on PFTs, plus interstitial disease with cystic changes on radiographs and CT that are indistinguishable from lymphangioleiomyomatosis (LAM). It predominantly affects females in the fourth decade, often presenting with dyspnea from spontaneous pneumorthorax in up to a third. Chronic cough, and/or wheezing with chest pain can lead to cyanosis, cor pulmonale, and death from respiratory failure. |
| References: | Crausman, RS and King, TE. “Pulmonary lymphagnioleiomyomatosis.” UpToDate Online (www.uptodate.com), Version 13.1.
Eugene J. Sullivan MD, FCCP. Lymphangioleiomyomatosis: A Review. Chest; December 1998; Volume 114. [Hancock E, Tomkins S, Sampson J, Osbourne J. Lymphangioleiomyomatosis and tuberous sclerosis. Respiratory Med 2002; 96:1, 7-13 AND Castro M, Shepherd CW, Gomez, et al. Pulmonary tuberous sclerosis. Chest. 1995; 107(1): 189-195] |
| Contributor | Russell A. Patterson (Uniformed Services University) |
| Author | ENS Leah Hill |
| Peer Reviewer | David S. Feigin, M.D. (Johns Hopkins Hospitals) |
| Record Number | : 6425 |
| Created | 2005-03-22 07:53:08-05 |
| Modified | 2005-06-08 20:36:59.351464-04 |
| Category: | Neoplasm, benign |
| Location: | Chest, Pulmonary (ex. Heart) |
| Sublocation: | Pleura and cavity |
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