Difference between revisions of "Lymphangioleiomyomatosis"

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{{ Infobox diagnosis
| Name      = {{PAGENAME}}
| Image      = Lymphangioleiomyomatosis - intermed mag.jpg
| Width      =
| Caption    = Lymphangioleiomyomatosis. [[H&E stain]].
| Synonyms  = lymphangiomyomatosis
| Micro      = spindle cells with small nuclei + larger epithelioid cells with clear cytoplasm and round nuclei, cyst formation, thick arterial walls
| Subtypes  =
| LMDDx      =
| Stains    =
| IHC        = HMB-45 +ve, ER +ve, PR +ve, SMA +ve
| EM        =
| Molecular  =
| IF        =
| Gross      =
| Grossing  =
| Site      = [[lung]] - see ''[[medical lung diseases]]''
| Assdx      =
| Syndromes  = [[tuberous sclerosis]]
| Clinicalhx = almost always women of childbearing age, recurrent [[pneumothorax]]
| Signs      =
| Symptoms  = dyspnea
| Prevalence = very rare
| Bloodwork  =
| Rads      = bullae/thin walled cysts distributed in all lung fields, lymphadenopathy
| Endoscopy  =
| Prognosis  =
| Other      =
| ClinDDx    = [[eosinophilic granuloma]], [[usual interstitial pneumonia]], [[emphysema]]
| 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===
*Associated with [[angiomyolipoma]]s.<ref name=emedicine299545>[http://emedicine.medscape.com/article/299545-overview http://emedicine.medscape.com/article/299545-overview]</ref>
*Associated with [[tuberous sclerosis]]<ref name=emedicine299545/> - abnormality in same gene (TSC2).
*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>
*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>


===Radiology===
==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==

Latest revision as of 02:07, 8 March 2016

Lymphangioleiomyomatosis
Diagnosis in short

Lymphangioleiomyomatosis. H&E stain.
Synonyms lymphangiomyomatosis
LM spindle cells with small nuclei + larger epithelioid cells with clear cytoplasm and round nuclei, cyst formation, thick arterial walls
IHC HMB-45 +ve, ER +ve, PR +ve, SMA +ve
Site lung - see medical lung diseases
Syndromes tuberous sclerosis
Clinical history almost always women of childbearing age, recurrent pneumothorax
Symptoms dyspnea
Prevalence very rare
Radiology bullae/thin walled cysts distributed in all lung fields, lymphadenopathy
Clin. DDx eosinophilic granuloma, usual interstitial pneumonia, emphysema
Treatment medical therapy, lung transplantation

Lymphangioleiomyomatosis, abbreviated LAM, is a rare lung pathology that predominantly afflicits women of childbearing age.

It is also known as lymphangiomyomatosis.

General

  • Clinical: dyspnea, recurrent pneumothorax.
  • May be an indication for lung transplantation.
  • Non-neoplastic muscle proliferation versus tumour that can metastasize.[1]

Notes:

Clinical DDx:[3]

Treatment:[4]

  • Bronchodilators - symptomatic treatment.
  • mTOR inhibitors. (???)
  • Transplantation.

Epidemiology

Gross/Radiology

  • Bullae/thin walled cysts - distributed in all lung fields.
  • Lymphadenopathy.

Radiologic DDx (of cysts):

Microscopic

Features:[6]

  • Spindle cells with small nuclei + larger epithelioid cells with clear cytoplasm and round nuclei.
  • Cyst formation.
  • Thick arterial walls.

Images

  • LAM - very low mag. (WC)

  • LAM - low mag. (WC)

  • LAM - intermed. mag. (WC)

  • LAM - very high mag. (WC)

www:

IHC

  • HMB-45 +ve.
  • ER +ve.
  • PR +ve.
  • SMA +ve.

See also

References

  1. ↑ Taveira-DaSilva, AM.; Pacheco-Rodriguez, G.; Moss, J. (Mar 2010). "The natural history of lymphangioleiomyomatosis: markers of severity, rate of progression and prognosis.". Lymphat Res Biol 8 (1): 9-19. doi:10.1089/lrb.2009.0024. PMID 20235883.
  2. ↑ 2.0 2.1 2.2 Rakowski SK, Winterkorn EB, Paul E, Steele DJ, Halpern EF, Thiele EA (November 2006). "Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors". Kidney Int. 70 (10): 1777–82. doi:10.1038/sj.ki.5001853. PMID 17003820.
  3. ↑ Xu, KF.; Lo, BH. (2014). "Lymphangioleiomyomatosis: differential diagnosis and optimal management.". Ther Clin Risk Manag 10: 691-700. doi:10.2147/TCRM.S50784. PMID 25187723.
  4. ↑ Vlachostergios, PJ.; Rad, BS.; Karimi, K.; Apergis, G. (Oct 2014). "Angiomyolipomas, Renal Cell Carcinomas and Pulmonary Lymphangioleiomyomatosis.". J Clin Diagn Res 8 (10): MJ01. doi:10.7860/JCDR/2014/9733.5021. PMID 25478388.
  5. ↑ Schiavina, M.; Di Scioscio, V.; Contini, P.; Cavazza, A.; Fabiani, A.; Barberis, M.; Bini, A.; Altimari, A. et al. (Jul 2007). "Pulmonary lymphangioleiomyomatosis in a karyotypically normal man without tuberous sclerosis complex.". Am J Respir Crit Care Med 176 (1): 96-8. doi:10.1164/rccm.200610-1408CR. PMID 17431222.
  6. ↑ http://emedicine.medscape.com/article/299545-diagnosis
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