lymphangioleiomyomatosis
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Etiology
Epidemiology
- rare
- women of child-bearing age (idiopathic)
- either sex tuberous sclerosis
Pathology
- multisystem neoplasm of smooth muscle cells
- nodular & diffuse interstitial proliferation of smooth muscle in the lungs, lymph nodes & thoracic duct
- hamartomatous proliferation of smooth muscle along bronchi into alveoli
- smooth muscle cells may be progesterone receptor +[6]
- obliteration of airways
- pulmonary cysts
- spindle cells coexpressing smooth-muscle & melanocytic markers line the cyst walls[11]
- generally progressive disorder
- renal angiomyolipoma
- death from respiratory failure
* image (lung biopsy, gross pathology)[11]
Genetics
- smooth muscle cells with inactivating tuberous sclerosis gene complex mutations infiltrate the lung
- somatic mutations in TSC2 or germline mutations in TSC1 or TSC2
- upregulation in RHEB with constitutive activation of mTORC1[6]
Clinical manifestations
- dyspnea
- cough (case report)[6]
- hemoptysis
- spontaneous pneumothorax resulting from cyst rupture[11]
- chylous pleural effusion (2/3 of patients)
- chylous ascites from obstruction of thoracic duct
- rapidly progressive airway disease may occur
- variable features of tuberous sclerosis
Laboratory
Diagnostic procedures
Radiology
- chest X-ray
- hyperinflated lungs
- diffuse nodular interstitial infiltrates
- multiple small cystic areas
- pleural effusion may be noted
- high-resolution computed tomography (CT) of thorax
- diffuse, thin-walled small pulmonary cysts
- pleural effusion may be noted
Complications
- often fatal
Management
- sirolimus
- blocks mTOR activation of downstream kinases
- attenuates decline in FEV1
- hormonal therapy
- oophorectomy
- pleurodesis for pneumothorax[11]
- lung transplantation
More general terms
References
- ↑ Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 756-57
- ↑ Medical Knowledge Self Assessment Program (MKSAP) 15, 16, 17. American College of Physicians, Philadelphia 2009, 2012, 2015
- ↑ UniProt http://www.uniprot.org/uniprot/P49815.html
- ↑ McCormack FX, Inoue Y, Moss J et al Efficacy and safety of sirolimus in lymphangioleiomyomatosis. N Engl J Med. 2011 Apr 28;364(17):1595-606 PMID: https://www.ncbi.nlm.nih.gov/pubmed/21410393
- ↑ Meraj R, Wikenheiser-Brokamp KA, Young LR, McCormack FX. Lymphangioleiomyomatosis: new concepts in pathogenesis, diagnosis, and treatment. Semin Respir Crit Care Med. 2012 Oct;33(5):486-97. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/23001803
- ↑ 6.0 6.1 6.2 6.3 Weinstock M, Vaidya A, El-Chemaly S, et al The Verge of Collapse. INTERACTIVE MEDICAL CASE N Engl J Med 2018;378:e18. March 29, 2018 PMID: https://www.ncbi.nlm.nih.gov/pubmed/29590548
- ↑ Henske EP, McCormack FX Lymphangioleiomyomatosis - a wolf in sheep's clothing. J Clin Invest. 2012 Nov;122(11):3807-16. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/23114603 Free PMC Article
- ↑ McCormack FX, Travis WD, Colby TV, Henske EP, Moss J. Lymphangioleiomyomatosis: calling it what it is: a low-grade, destructive, metastasizing neoplasm. Am J Respir Crit Care Med. 2012 Dec 15;186(12):1210-2. PMID: https://www.ncbi.nlm.nih.gov/pubmed/23250499 Free PMC Article
- ↑ Goldberg HJ, Harari S, Cottin V et al Everolimus for the treatment of lymphangioleiomyomatosis: a phase II study.wal S, Cheng Y, Khindri S, Kovarik JM, Ma S, McCormack FX, Henske EP. Eur Respir J. 2015 Sep;46(3):783-94. PMID: https://www.ncbi.nlm.nih.gov/pubmed/26113676 Free Article
- ↑ McCormack FX, Gupta N, Finlay GR et al Official American Thoracic Society/Japanese Respiratory Society Clinical Practice Guidelines: Lymphangioleiomyomatosis Diagnosis and Management. Am J Respir Crit Care Med. 2016 Sep 15;194(6):748-61. PMID: https://www.ncbi.nlm.nih.gov/pubmed/27628078 Free PMC Article
- ↑ 11.0 11.1 11.2 11.3 11.4 11.5 Sclafani A, VanderLaan P. Lymphangioleiomyomatosis. N Engl J Med 2018; 378:2224. June 7, 2018 PMID: https://www.ncbi.nlm.nih.gov/pubmed/29874537 https://www.nejm.org/doi/full/10.1056/NEJMicm1712581
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