PMID- 25187723
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20140904
LR  - 20211021
IS  - 1176-6336 (Print)
IS  - 1178-203X (Electronic)
IS  - 1176-6336 (Linking)
VI  - 10
DP  - 2014
TI  - Lymphangioleiomyomatosis: differential diagnosis and optimal management.
PG  - 691-700
LID - 10.2147/TCRM.S50784 [doi]
AB  - Lymphangioleiomyomatosis (LAM) is an uncommon disease presented as diffuse 
      thin-walled cystic changes in the lung. The main differential diagnoses include 
      pulmonary Langerhans' histiocytosis (PLCH), Birt-Hogg-Dube syndrome (BHD), 
      lymphoid interstitial pneumonia (LIP), and amyloidosis. A combination of 
      clinical, radiological, and pathological approaches as well as genetic testing 
      will clarify the diagnosis in most cases. LAM is a disease almost exclusively in 
      women. Dyspnea, pneumothorax, and hemoptysis are common presentations in LAM 
      patients. LAM is also a lymphatic disorder affecting lymphatic vessels and lymph 
      nodes. Chylothorax, chylous ascites, and lymphangiomyomas are frequently seen. 
      LAM can present sporadically as a single entity or as part of tuberous sclerosis 
      complex (TSC). Angiomyolipoma (AML) is a characteristic extra-pulmonary lesion, 
      either found in association with sporadic or TSC-related LAM. High-risk 
      populations should be screened for LAM, including adult women with TSC and female 
      patients with spontaneous pneumothorax, AMLs in the kidney, and diffuse cystic 
      lung diseases. Definitive diagnosis of LAM is based on a high level of clinical 
      suspicion on presentation supported by pathological findings or by a distinct 
      feature, such as a history of TSC, AMLs in the kidney, chylothorax, or chylous 
      ascites. Vascular endothelial growth factor-D (VEGF-D) in serum is a noninvasive 
      and reliable diagnostic biomarker. In experienced centers, trans-bronchial lung 
      biopsy (TBLB) provides a convenient and safe way to obtain lung specimens for 
      diagnostic purposes. An effective treatment for LAM is now available, namely 
      using a mechanistic target of rapamycin (mTOR) inhibitor such as sirolimus. 
      Efficacy of sirolimus has been confirmed in clinical trials. Research in other 
      molecular-targeted therapies is under investigation. A previously little-known 
      rare disease with no cure is now better understood with regards to its 
      pathogenesis, diagnosis, and management. In this review, current knowledge in 
      diagnosis and differential diagnosis of LAM will be discussed, followed by the 
      discussion of therapy with mTOR inhibitors.
FAU - Xu, Kai-Feng
AU  - Xu KF
AD  - Department of Respiratory Medicine, Peking Union Medical College Hospital, 
      Beijing, People's Republic of China.
FAU - Lo, Bee Hong
AU  - Lo BH
AD  - Developmental Pediatrician, PECAT, Children's Hospital Westmead, Sydney, NSW, 
      Australia.
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20140821
PL  - New Zealand
TA  - Ther Clin Risk Manag
JT  - Therapeutics and clinical risk management
JID - 101253281
PMC - PMC4149398
OTO - NOTNLM
OT  - diffuse cystic lung diseases
OT  - lymphangioleiomyomatosis
OT  - sirolimus
OT  - tuberous sclerosis complex
OT  - vascular endothelial growth factor-D
EDAT- 2014/09/05 06:00
MHDA- 2014/09/05 06:01
PMCR- 2014/08/21
CRDT- 2014/09/05 06:00
PHST- 2014/09/05 06:00 [entrez]
PHST- 2014/09/05 06:00 [pubmed]
PHST- 2014/09/05 06:01 [medline]
PHST- 2014/08/21 00:00 [pmc-release]
AID - tcrm-10-691 [pii]
AID - 10.2147/TCRM.S50784 [doi]
PST - epublish
SO  - Ther Clin Risk Manag. 2014 Aug 21;10:691-700. doi: 10.2147/TCRM.S50784. 
      eCollection 2014.