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Difference between revisions of "Lymphangioleiomyomatosis"
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| Assdx = | | Assdx = | ||
| Syndromes = [[tuberous sclerosis]] | | Syndromes = [[tuberous sclerosis]] | ||
| Clinicalhx = almost always women of childbearing age, recurrent pneumothorax | | Clinicalhx = almost always women of childbearing age, recurrent [[pneumothorax]] | ||
| Signs = | | Signs = | ||
| Symptoms = dyspnea | | Symptoms = dyspnea | ||
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| Other = | | Other = | ||
| ClinDDx = [[eosinophilic granuloma]], [[usual interstitial pneumonia]], [[emphysema]] | | ClinDDx = [[eosinophilic granuloma]], [[usual interstitial pneumonia]], [[emphysema]] | ||
| Tx = lung transplantation | | Tx = medical therapy, lung transplantation | ||
}} | }} | ||
'''Lymphangioleiomyomatosis''', abbreviated '''LAM''', is a rare [[medical lung disease|lung pathology]] that predominantly afflicits women of childbearing age. | '''Lymphangioleiomyomatosis''', abbreviated '''LAM''', is a rare [[medical lung disease|lung pathology]] that predominantly afflicits women of childbearing age. | ||
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==General== | ==General== | ||
*Clinical: [[dyspnea]], recurrent pneumothorax. | *Clinical: [[dyspnea]], recurrent [[pneumothorax]]. | ||
*May be an indication for lung transplantation. | *May be an indication for lung transplantation. | ||
*Non-neoplastic muscle proliferation versus tumour that can metastasize.<ref name=pmid20235883>{{Cite journal | last1 = Taveira-DaSilva | first1 = AM. | last2 = Pacheco-Rodriguez | first2 = G. | last3 = Moss | first3 = J. | title = The natural history of lymphangioleiomyomatosis: markers of severity, rate of progression and prognosis. | journal = Lymphat Res Biol | volume = 8 | issue = 1 | pages = 9-19 | month = Mar | year = 2010 | doi = 10.1089/lrb.2009.0024 | PMID = 20235883 }}</ref> | *Non-neoplastic muscle proliferation versus tumour that can metastasize.<ref name=pmid20235883>{{Cite journal | last1 = Taveira-DaSilva | first1 = AM. | last2 = Pacheco-Rodriguez | first2 = G. | last3 = Moss | first3 = J. | title = The natural history of lymphangioleiomyomatosis: markers of severity, rate of progression and prognosis. | journal = Lymphat Res Biol | volume = 8 | issue = 1 | pages = 9-19 | month = Mar | year = 2010 | doi = 10.1089/lrb.2009.0024 | PMID = 20235883 }}</ref> | ||
**It has been hypothesized that LAM represent a non-malignant [[metastasis]] of a renal [[angiomyolipoma]].<ref name=pmid17003820/> | |||
Notes: | Notes: | ||
*Considered to be a [[PEComa]]. | *Considered to be a [[PEComa]]. | ||
Clinical DDx:<ref>{{Cite journal | last1 = Xu | first1 = KF. | last2 = Lo | first2 = BH. | title = Lymphangioleiomyomatosis: differential diagnosis and optimal management. | journal = Ther Clin Risk Manag | volume = 10 | issue = | pages = 691-700 | month = | year = 2014 | doi = 10.2147/TCRM.S50784 | PMID = 25187723 }}</ref> | |||
*[[Pulmonary Langerhans cell histiocytosis]]. | |||
*[[Lymphocytic interstitial pneumonia]] (LIP). | |||
*[[Pulmonary amyloidosis]]. | |||
*[[Birt–Hogg–Dubé syndrome]]. | |||
Treatment:<ref name=pmid25478388>{{Cite journal | last1 = Vlachostergios | first1 = PJ. | last2 = Rad | first2 = BS. | last3 = Karimi | first3 = K. | last4 = Apergis | first4 = G. | title = Angiomyolipomas, Renal Cell Carcinomas and Pulmonary Lymphangioleiomyomatosis. | journal = J Clin Diagn Res | volume = 8 | issue = 10 | pages = MJ01 | month = Oct | year = 2014 | doi = 10.7860/JCDR/2014/9733.5021 | PMID = 25478388 }}</ref> | |||
*Bronchodilators - symptomatic treatment. | |||
*mTOR inhibitors. (???) | |||
*Transplantation. | |||
===Epidemiology=== | ===Epidemiology=== | ||
*Rare. | *Rare. | ||
*Usually affects women - primarily in childbearing years. | |||
**Case reports of LAM in men - usu. with [[TSC]].<ref name=pmid17431222>{{Cite journal | last1 = Schiavina | first1 = M. | last2 = Di Scioscio | first2 = V. | last3 = Contini | first3 = P. | last4 = Cavazza | first4 = A. | last5 = Fabiani | first5 = A. | last6 = Barberis | first6 = M. | last7 = Bini | first7 = A. | last8 = Altimari | first8 = A. | last9 = Cooke | first9 = RM. | title = Pulmonary lymphangioleiomyomatosis in a karyotypically normal man without tuberous sclerosis complex. | journal = Am J Respir Crit Care Med | volume = 176 | issue = 1 | pages = 96-8 | month = Jul | year = 2007 | doi = 10.1164/rccm.200610-1408CR | PMID = 17431222 }}</ref> | |||
*Associated with [[angiomyolipoma]]s. | |||
**Seen in ~30% of sporadic cases, and in ~90% of cases with tuberous sclerosis.<ref name=pmid17003820/> | |||
*Associated with [[tuberous sclerosis]] - esp. TSC2 mutations. | |||
**In the context of [[tuberous sclerosis]], [[angiomyolipoma]] of the kidney often preceeds LAM.<ref name=pmid17003820>{{cite journal |author=Rakowski SK, Winterkorn EB, Paul E, Steele DJ, Halpern EF, Thiele EA |title=Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors |journal=Kidney Int. |volume=70 |issue=10 |pages=1777–82 |year=2006 |month=November |pmid=17003820 |doi=10.1038/sj.ki.5001853 |url=}}</ref> | |||
== | ==Gross/Radiology== | ||
*Bullae/thin walled cysts - distributed in all lung fields. | *Bullae/thin walled cysts - distributed in all lung fields. | ||
*Lymphadenopathy. | *Lymphadenopathy. | ||
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*[[Medical lung diseases]]. | *[[Medical lung diseases]]. | ||
*[[PEComa]]. | *[[PEComa]]. | ||
*[[Multifocal micronodular pneumocyte hyperplasia associated with tuberous sclerosis]]. | |||
==References== | ==References== | ||