Lymphangiomyomatosis: Difference between revisions

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__NOTOC__
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{{SI}}
'''For patient information, click [[Lymphangiomyomatosis (patient information)|here]].'''
'''For patient information, click [[Lymphangiomyomatosis (patient information)|here]].'''


{{CMG}}; {{AOEIC}} {{VK}} {{Ammu}}
{{CMG}}; {{AOEIC}} {{JSS}}


{{SK}} Lymphangioleiomyomatosis; LAM; Pulmonary lymphangioleiomyomatosis; Pulmonary lymphangiomyomatosis
{{SK}} Lymphangioleiomyomatosis; LAM; Pulmonary lymphangioleiomyomatosis; Pulmonary lymphangiomyomatosis


==Overview==
==Overview==
Lymphangiomyomatosis is a disorder resulting from proliferation of abnormal [[Smooth muscle cell|smooth muscle]] like cells, mostly in the lungs but can also occur in other body parts such as [[kidney]], [[mediastinum]] or axial [[Lymphatic system|lymphatics]]. Lymphangiomyomatosis is characterized by small [[Mediastinum|mediastinal]] or retro- peritoneal tumors which involve the [[Thoracic duct|thoracic duc]]<nowiki/>t and consist of numerous smooth muscle bundles interspersed with lymphatic channels. Lymphangiomyomatosis must be differentiated from other diseases that cause similar clinical features, such as [[asthma]], [[Pneumothorax|spontaneous pneumothorax]], [[emphysema]], [[interstitial pulmonary fibrosis]], [[eosinophilic granuloma]] (EG), Birt-Hogg-Dube syndrome, [[lymphangiomas]], pulmonary lymphangiectasis, and [[leiomyosarcoma]]. Symptoms of lymphangiomyomatosis  may include [[constipation]], [[dyspnea]], and [[cough]]. The mainstay of therapy for lymphangiomyomatosisis include [[sirolimus]], [[Medroxyprogesterone acetate|medroxyprogesterone]], [[gonadotropin]]-releasing hormone agonists, and [[tamoxifen]]. The most effective treatment is lung transplant.
Lymphangiomyomatosis is a disorder resulting from proliferation of abnormal [[Smooth muscle cell|smooth muscle]] like cells, mostly in the lungs but can also occur in other body parts such as [[kidney]], [[mediastinum]] or axial [[Lymphatic system|lymphatics]]. Lymphangiomyomatosis is characterized by small [[Mediastinum|mediastinal]] or retro- peritoneal tumors which involve the [[Thoracic duct|thoracic duc]]<nowiki/>t and consist of numerous [[smooth muscle]] bundles interspersed with lymphatic channels. Lymphangiomyomatosis must be differentiated from other diseases that cause similar clinical features, such as [[asthma]], [[Pneumothorax|spontaneous pneumothorax]], [[emphysema]], interstitial [[pulmonary fibrosis]], [[eosinophilic granuloma]] (EG), Birt-Hogg-Dube syndrome, [[lymphangiomas]], pulmonary lymphangiectasis, and [[leiomyosarcoma]]. Symptoms of lymphangiomyomatosis  may include [[constipation]], [[dyspnea]], and [[cough]]. The mainstay of therapy for lymphangiomyomatosisis include [[sirolimus]], [[Medroxyprogesterone acetate|medroxyprogesterone]], [[gonadotropin]]-releasing hormone agonists, and [[tamoxifen]]. The most effective treatment is [[lung transplant]].


==Historical Perspective==
==Historical Perspective==
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==Classification==
==Classification==
Lymphangiomyomatosis is classified into:
Lymphangiomyomatosis is classified into:
* Sporadic lymphangiomyomatosis, when it occurs without [[tuberous sclerosis]]<ref name="pmid9105053">{{cite journal| author=Kalassian KG, Doyle R, Kao P, Ruoss S, Raffin TA| title=Lymphangioleiomyomatosis: new insights. | journal=Am J Respir Crit Care Med | year= 1997 | volume= 155 | issue= 4 | pages= 1183-6 | pmid=9105053 | doi=10.1164/ajrccm.155.4.9105053 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9105053  }} </ref>.
* Sporadic lymphangiomyomatosis, (when it occurs without [[tuberous sclerosis]])<ref name="pmid9105053">{{cite journal| author=Kalassian KG, Doyle R, Kao P, Ruoss S, Raffin TA| title=Lymphangioleiomyomatosis: new insights. | journal=Am J Respir Crit Care Med | year= 1997 | volume= 155 | issue= 4 | pages= 1183-6 | pmid=9105053 | doi=10.1164/ajrccm.155.4.9105053 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9105053  }} </ref>.
* Lymphangiomyomatosis with tuberous sclerosis, when it occurs in patients of tuberous sclerosis.
* Lymphangiomyomatosis with [[tuberous sclerosis]], (when it occurs in patients of [[tuberous sclerosis]]).


==Pathophysiology==
==Pathophysiology==
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*Obstruction of lymphatics may result in [[chylothorax]], and [[chylous ascites]]<ref name="pmid23111591">{{cite journal| author=Richter MJ, Baumgartner R, Leuchte HH| title=[Chylothorax in an 87-year-old patient]. | journal=Internist (Berl) | year= 2013 | volume= 54 | issue= 1 | pages= 105-9 | pmid=23111591 | doi=10.1007/s00108-012-3158-7 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23111591  }} </ref><ref name="pmid12576391">{{cite journal| author=Ryu JH, Doerr CH, Fisher SD, Olson EJ, Sahn SA| title=Chylothorax in lymphangioleiomyomatosis. | journal=Chest | year= 2003 | volume= 123 | issue= 2 | pages= 623-7 | pmid=12576391 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12576391  }} </ref>.
*Obstruction of lymphatics may result in [[chylothorax]], and [[chylous ascites]]<ref name="pmid23111591">{{cite journal| author=Richter MJ, Baumgartner R, Leuchte HH| title=[Chylothorax in an 87-year-old patient]. | journal=Internist (Berl) | year= 2013 | volume= 54 | issue= 1 | pages= 105-9 | pmid=23111591 | doi=10.1007/s00108-012-3158-7 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23111591  }} </ref><ref name="pmid12576391">{{cite journal| author=Ryu JH, Doerr CH, Fisher SD, Olson EJ, Sahn SA| title=Chylothorax in lymphangioleiomyomatosis. | journal=Chest | year= 2003 | volume= 123 | issue= 2 | pages= 623-7 | pmid=12576391 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12576391  }} </ref>.
*As the cysts develop throughout the lungs, lymphangiomyomatosis causes breathing problems.
*As the cysts develop throughout the lungs, lymphangiomyomatosis causes breathing problems.
*The abnormal poliferation and formation of cysts, causes obstructive pattern of lung disease<ref name="pmid8616568">{{cite journal| author=Crausman RS, Jennings CA, Mortenson RL, Ackerson LM, Irvin CG, King TE| title=Lymphangioleiomyomatosis: the pathophysiology of diminished exercise capacity. | journal=Am J Respir Crit Care Med | year= 1996 | volume= 153 | issue= 4 Pt 1 | pages= 1368-76 | pmid=8616568 | doi=10.1164/ajrccm.153.4.8616568 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8616568  }} </ref>.
*The abnormal proliferation and formation of cysts, causes obstructive pattern of lung disease<ref name="pmid8616568">{{cite journal| author=Crausman RS, Jennings CA, Mortenson RL, Ackerson LM, Irvin CG, King TE| title=Lymphangioleiomyomatosis: the pathophysiology of diminished exercise capacity. | journal=Am J Respir Crit Care Med | year= 1996 | volume= 153 | issue= 4 Pt 1 | pages= 1368-76 | pmid=8616568 | doi=10.1164/ajrccm.153.4.8616568 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8616568  }} </ref>.
*
*
==Causes==
==Causes==
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* The prognosis of lymphangiomyomatosis is poor, with 70% of patients not surviving more than 10 years after diagnosis.
* The prognosis of lymphangiomyomatosis is poor, with 70% of patients not surviving more than 10 years after diagnosis.
* Poor prognostic factors include:
* Poor prognostic factors include:
** Reduced FEV1.
** Reduced [[FEV1]].
** Reduced diffusion lung capacity to carbon monoxide.
** Reduced diffusion lung capacity to carbon monoxide.
** Formation of cysts in lungs.
** Formation of cysts in lungs.
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*Symptoms of lymphangiomyomatosis  may include the following<ref name="pmid9927387">{{cite journal| author=| title=NHLBI Workshop Summary. Report of workshop on lymphangioleiomyomatosis. National Heart, Lung, and Blood Institute. | journal=Am J Respir Crit Care Med | year= 1999 | volume= 159 | issue= 2 | pages= 679-83 | pmid=9927387 | doi=10.1164/ajrccm.159.2.9803107 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9927387  }} </ref><ref name="pmid10325903">{{cite journal| author=Johnson S| title=Rare diseases. 1. Lymphangioleiomyomatosis: clinical features, management and basic mechanisms. | journal=Thorax | year= 1999 | volume= 54 | issue= 3 | pages= 254-64 | pmid=10325903 | doi= | pmc=1745441 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10325903  }} </ref><ref name="pmid19447921">{{cite journal| author=Taveira-DaSilva AM, Steagall WK, Rabel A, Hathaway O, Harari S, Cassandro R et al.| title=Reversible airflow obstruction in lymphangioleiomyomatosis. | journal=Chest | year= 2009 | volume= 136 | issue= 6 | pages= 1596-1603 | pmid=19447921 | doi=10.1378/chest.09-0624 | pmc=2818851 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19447921  }} </ref>:
*Symptoms of lymphangiomyomatosis  may include the following<ref name="pmid9927387">{{cite journal| author=| title=NHLBI Workshop Summary. Report of workshop on lymphangioleiomyomatosis. National Heart, Lung, and Blood Institute. | journal=Am J Respir Crit Care Med | year= 1999 | volume= 159 | issue= 2 | pages= 679-83 | pmid=9927387 | doi=10.1164/ajrccm.159.2.9803107 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9927387  }} </ref><ref name="pmid10325903">{{cite journal| author=Johnson S| title=Rare diseases. 1. Lymphangioleiomyomatosis: clinical features, management and basic mechanisms. | journal=Thorax | year= 1999 | volume= 54 | issue= 3 | pages= 254-64 | pmid=10325903 | doi= | pmc=1745441 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10325903  }} </ref><ref name="pmid19447921">{{cite journal| author=Taveira-DaSilva AM, Steagall WK, Rabel A, Hathaway O, Harari S, Cassandro R et al.| title=Reversible airflow obstruction in lymphangioleiomyomatosis. | journal=Chest | year= 2009 | volume= 136 | issue= 6 | pages= 1596-1603 | pmid=19447921 | doi=10.1378/chest.09-0624 | pmc=2818851 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19447921  }} </ref>:
**[[Dyspnea|Difficulty in breathing]]
**[[Dyspnea|Difficulty in breathing]]
** Bluish discoloration of lips
** Bluish discoloration of lips ([[cyanosis]])
** [[Cough]]
** [[Cough]]
** [[Chest pain]]
** [[Chest pain]]
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:*Hypomelanotic [[Macule|macules]], ash-leaf spots
:*Hypomelanotic [[Macule|macules]], ash-leaf spots
:*Shagreen patch  
:*Shagreen patch  
:*Forehead plaque
:*Forehead [[plaque]]
:*Retinal [[hamartoma]]
:*Retinal [[hamartoma]]


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*Pulmonary function tests are used to assess the lung damage caused by lymphangiomyomatosis.
*Pulmonary function tests are used to assess the lung damage caused by lymphangiomyomatosis.
**Reduced FEV1.
**Reduced FEV1.
**Reduced diffusion lung capacity to carbon monoxide.
**Reduced diffusion lung capacity to [[carbon monoxide]].
**Increased [[Lung volumes|residual volume.]]
**Increased [[Lung volumes|residual volume.]]
**Obstructive pattern on [[spirometry]].
**Obstructive pattern on [[spirometry]].
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===Imaging Findings===
===Imaging Findings===
* CT scan is used to daignose lymphangiomyomatosis<ref name="pmid8466360">{{cite journal| author=Warren SE, Lee D, Martin V, Messink W| title=Pulmonary lymphangiomyomatosis causing bilateral pneumothorax during pregnancy. | journal=Ann Thorac Surg | year= 1993 | volume= 55 | issue= 4 | pages= 998-1000 | pmid=8466360 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8466360  }} </ref><ref name="pmid1146965">{{cite journal| author=Corrin B, Liebow AA, Friedman PJ| title=Pulmonary lymphangiomyomatosis. A review. | journal=Am J Pathol | year= 1975 | volume= 79 | issue= 2 | pages= 348-82 | pmid=1146965 | doi= | pmc=1912658 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1146965  }} </ref><ref name="pmid2215609">{{cite journal| author=Taylor JR, Ryu J, Colby TV, Raffin TA| title=Lymphangioleiomyomatosis. Clinical course in 32 patients. | journal=N Engl J Med | year= 1990 | volume= 323 | issue= 18 | pages= 1254-60 | pmid=2215609 | doi=10.1056/NEJM199011013231807 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2215609  }} </ref><ref name="pmid26938102">{{cite journal| author=Lama A, Ferreiro L, Golpe A, Gude F, Álvarez-Dobaño JM, González-Barcala FJ et al.| title=Characteristics of Patients with Lymphangioleiomyomatosis and Pleural Effusion: A Systematic Review. | journal=Respiration | year= 2016 | volume= 91 | issue= 3 | pages= 256-64 | pmid=26938102 | doi=10.1159/000444264 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26938102  }} </ref>.
* CT scan is used to diagnose lymphangiomyomatosis<ref name="pmid8466360">{{cite journal| author=Warren SE, Lee D, Martin V, Messink W| title=Pulmonary lymphangiomyomatosis causing bilateral pneumothorax during pregnancy. | journal=Ann Thorac Surg | year= 1993 | volume= 55 | issue= 4 | pages= 998-1000 | pmid=8466360 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8466360  }} </ref><ref name="pmid1146965">{{cite journal| author=Corrin B, Liebow AA, Friedman PJ| title=Pulmonary lymphangiomyomatosis. A review. | journal=Am J Pathol | year= 1975 | volume= 79 | issue= 2 | pages= 348-82 | pmid=1146965 | doi= | pmc=1912658 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1146965  }} </ref><ref name="pmid2215609">{{cite journal| author=Taylor JR, Ryu J, Colby TV, Raffin TA| title=Lymphangioleiomyomatosis. Clinical course in 32 patients. | journal=N Engl J Med | year= 1990 | volume= 323 | issue= 18 | pages= 1254-60 | pmid=2215609 | doi=10.1056/NEJM199011013231807 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2215609  }} </ref><ref name="pmid26938102">{{cite journal| author=Lama A, Ferreiro L, Golpe A, Gude F, Álvarez-Dobaño JM, González-Barcala FJ et al.| title=Characteristics of Patients with Lymphangioleiomyomatosis and Pleural Effusion: A Systematic Review. | journal=Respiration | year= 2016 | volume= 91 | issue= 3 | pages= 256-64 | pmid=26938102 | doi=10.1159/000444264 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26938102  }} </ref>.
* Lymphangiomyomatosis appears as well-circumscribed lobular, thin or thick-walled masses without evidence of [[necrosis]] or [[Bleeding|hemorrhage]].
* Lymphangiomyomatosis appears as well-circumscribed lobular, thin or thick-walled masses without evidence of [[necrosis]] or [[Bleeding|hemorrhage]].
* Other findings are:
* Other findings are:
Line 169: Line 169:


=== Surgery ===
=== Surgery ===
*[[Lung transplantation|Lung transplan]]<nowiki/>t is performed for patients with recurrent lymphangiomyomatosis resitant to medical therapy<ref name="pmid16685019">{{cite journal| author=Almoosa KF, Ryu JH, Mendez J, Huggins JT, Young LR, Sullivan EJ et al.| title=Management of pneumothorax in lymphangioleiomyomatosis: effects on recurrence and lung transplantation complications. | journal=Chest | year= 2006 | volume= 129 | issue= 5 | pages= 1274-81 | pmid=16685019 | doi=10.1378/chest.129.5.1274 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16685019  }} </ref>.
*[[Lung transplantation|Lung transplan]]<nowiki/>t is performed for patients with recurrent lymphangiomyomatosis resistant to medical therapy<ref name="pmid16685019">{{cite journal| author=Almoosa KF, Ryu JH, Mendez J, Huggins JT, Young LR, Sullivan EJ et al.| title=Management of pneumothorax in lymphangioleiomyomatosis: effects on recurrence and lung transplantation complications. | journal=Chest | year= 2006 | volume= 129 | issue= 5 | pages= 1274-81 | pmid=16685019 | doi=10.1378/chest.129.5.1274 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16685019  }} </ref>.


=== Prevention ===
=== Primary Prevention ===
* Lymphangiomyomatosis cannot be prevented as it is caused due to gene mutations, mechanism of which is unknown.
* Lymphangiomyomatosis cannot be prevented as it is caused due to gene mutations, mechanism of which is unknown.
* However, the lung damage can be reduced by using the following measures<ref name="pmid16268919">{{cite journal| author=Yen KT, Putzke JD, Staats BA, Burger CD| title=The prevalence of acute response to bronchodilator in pulmonary lymphangioleiomyomatosis. | journal=Respirology | year= 2005 | volume= 10 | issue= 5 | pages= 643-8 | pmid=16268919 | doi=10.1111/j.1440-1843.2005.00762.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16268919  }} </ref>:
 
** Bronchodilators
==Secondary Prevention===
** Supplemental oxygen
* Effective measures for secondary prevention of  lymphangiomyomatosis is reducing lung damage. The lung damage can be reduced by using the following measures:<ref name="pmid16268919">{{cite journal| author=Yen KT, Putzke JD, Staats BA, Burger CD| title=The prevalence of acute response to bronchodilator in pulmonary lymphangioleiomyomatosis. | journal=Respirology | year= 2005 | volume= 10 | issue= 5 | pages= 643-8 | pmid=16268919 | doi=10.1111/j.1440-1843.2005.00762.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16268919  }} </ref>
** [[Bronchodilators]]
** Supplemental [[oxygen]]
** Pulmonary rehabilitation
** Pulmonary rehabilitation
** Smoking cessation
** [[Smoking cessation]]
** Standard vaccination for respiratory infections
** Standard vaccination for respiratory infections



Latest revision as of 18:45, 17 December 2018

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-In-Chief: Jogeet Singh Sekhon, M.D. [2]

Synonyms and keywords: Lymphangioleiomyomatosis; LAM; Pulmonary lymphangioleiomyomatosis; Pulmonary lymphangiomyomatosis

Overview

Lymphangiomyomatosis is a disorder resulting from proliferation of abnormal smooth muscle like cells, mostly in the lungs but can also occur in other body parts such as kidney, mediastinum or axial lymphatics. Lymphangiomyomatosis is characterized by small mediastinal or retro- peritoneal tumors which involve the thoracic duct and consist of numerous smooth muscle bundles interspersed with lymphatic channels. Lymphangiomyomatosis must be differentiated from other diseases that cause similar clinical features, such as asthma, spontaneous pneumothorax, emphysema, interstitial pulmonary fibrosis, eosinophilic granuloma (EG), Birt-Hogg-Dube syndrome, lymphangiomas, pulmonary lymphangiectasis, and leiomyosarcoma. Symptoms of lymphangiomyomatosis may include constipation, dyspnea, and cough. The mainstay of therapy for lymphangiomyomatosisis include sirolimus, medroxyprogesterone, gonadotropin-releasing hormone agonists, and tamoxifen. The most effective treatment is lung transplant.

Historical Perspective

It was first described by Van Stossel in the year 1937.

Classification

Lymphangiomyomatosis is classified into:

Pathophysiology

  • Lymphangiomyomatosis is a disorder resulting from proliferation of abnormal smooth muscle like cells, mostly in the lungs but can also occur in other body parts such as kidney, mediastinum or axial lymphatics[2][3][4].
  • Lymphangiomyomatosis is characterized by small mediastinal or retro- peritoneal tumors which involve the thoracic duct and consist of numerous smooth muscle bundles interspersed with lymphatic channels[5].
  • It can occur in a sporadic form, which only affects females, who are usually of childbearing age.
  • It can also occur in patients who have tuberous sclerosis..
  • Renal angiolipomas are present in 50 % of cases of sporadic lymphangiomyomatosis[6].
  • The tuberous sclerosis complex (TSC) gene mutation has been associated with the development of lymphangiomyomatosis.
  • TSC1 and TSC2 genes located on chromosome 9q34 and 16p13, are involved in the pathogenesis.
  • TSC1 gene is responsible for the production of hamartin protein and TSC2 for the production of tuberin protein.
  • The loss of these proteins along with the influence of estrogen allows the cell to grow and divide in an uncontrolled way, resulting in the tumors and cysts associated with lymphangiomyomatosis.
  • This proliferation of immature muscle cells starts covering alveolar walls, bronchioles, pleura and vessels, including lymphatic routes.
  • Excessive proteolytic activity from the proliferation of the smooth muscle cells result in lung destruction and formation of cysts.
  • These cysts are called lymphangioleiomyomas.
  • Obstruction of lymphatics may result in chylothorax, and chylous ascites[7][8].
  • As the cysts develop throughout the lungs, lymphangiomyomatosis causes breathing problems.
  • The abnormal proliferation and formation of cysts, causes obstructive pattern of lung disease[9].

Causes

  • Lymphangiomyomatosis is caused due to mutations in TSC1 and TSC2 genes.

Differentiating Lymphangiomyomatosis from other Diseases

  • Lymphangiomyomatosis must be differentiated from other diseases that cause similar clinical features, such as:

Epidemiology and Demographics

  • The incidence of lymphangiomyomatosis is 0.2 per 100000 individuals[10].

Age

  • Lymphangiomyomatosis is more commonly observed among female patients aged 15-45 years old.

Gender

  • Lymphangiomyomatosis affects women exclusively who are of reproductive age group.

Race

  • There is no racial predilection for lymphangiomyomatosis.

Natural History, Complications and Prognosis

Natural history

Patients will have a history of[2][11][12][13]:

Complications

Prognosis

  • The prognosis of lymphangiomyomatosis is poor, with 70% of patients not surviving more than 10 years after diagnosis.
  • Poor prognostic factors include:
    • Reduced FEV1.
    • Reduced diffusion lung capacity to carbon monoxide.
    • Formation of cysts in lungs.

Diagnosis

Symptoms

Physical Examination

  • Physical examination may be remarkable for:

Laboratory Findings

Imaging Findings

Other diagnostic studies

  • Transbronchial lung biopsy[9].
  • Surgical lung biopsy
  • On biopsy, the histopathological findings are:
    • Proliferation of spindle-shaped myoid cells that are arranged in short fascicles around arterioles, venules, and lymphatics which causes thickening of alveolar septa and formation of cysts.
    • The spindle cell proliferation can result in formation of nodules.
    • The tumor cells may invade lymphatics and blood vessels causing secondary hemorrhage and destruction of the septal wall.
  • Immunohistopathological results of the biopsy are:

Treatment

Medical Therapy

Surgery

  • Lung transplant is performed for patients with recurrent lymphangiomyomatosis resistant to medical therapy[21].

Primary Prevention

  • Lymphangiomyomatosis cannot be prevented as it is caused due to gene mutations, mechanism of which is unknown.

Secondary Prevention=

  • Effective measures for secondary prevention of lymphangiomyomatosis is reducing lung damage. The lung damage can be reduced by using the following measures:[22]

References

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