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Lymphangiomyomatosis(LAM)

MedGen UID:
148366
Concept ID:
C0751674
Neoplastic Process
Synonyms: LAM; Lymphangioleiomyomatosis; Lymphangioleiomyomatosis, somatic; TSC1-Related Lymphangioleiomyomatosis
SNOMED CT: Lymphangiomyomatosis (73017001); Lymphangioleiomyomatosis (73017001)
 
Genes (locations): TSC1 (9q34.13); TSC2 (16p13.3)
 
Monarch Initiative: MONDO:0011705
OMIM®: 606690

Definition

Lymphangioleiomyomatosis (LAM) is a condition that affects the lungs, the kidneys, and the lymphatic system. The lymphatic system consists of a network of vessels that transport lymph fluid and immune cells throughout the body. Lymph fluid helps exchange immune cells, proteins, and other substances between the blood and tissues.

LAM is found almost exclusively in women. It often occurs as a feature of an inherited syndrome called tuberous sclerosis complex. When LAM occurs alone it is called isolated or sporadic LAM.

Signs and symptoms of LAM most often appear during a woman's thirties. Affected women have an overgrowth of abnormal smooth muscle-like cells (LAM cells) in the lungs, resulting in the formation of lung cysts and the destruction of normal lung tissue. They may also have an accumulation of fluid in the cavity around the lungs (chylothorax).

The lung abnormalities resulting from LAM may cause difficulty breathing (dyspnea), chest pain, and coughing, which may bring up blood (hemoptysis). Many women with this disorder have recurrent episodes of collapsed lung (spontaneous pneumothorax). The lung problems may be progressive and, without lung transplantation, may eventually lead to limitations in activities of daily living, the need for oxygen therapy, and respiratory failure. Although LAM cells are not considered cancerous, they may spread between tissues (metastasize). As a result, the condition may recur even after lung transplantation.

Women with LAM may develop cysts in the lymphatic vessels of the chest and abdomen. These cysts are called lymphangioleiomyomas. Affected women may also develop tumors called angiomyolipomas made up of LAM cells, fat cells, and blood vessels. Angiomyolipomas usually develop in the kidneys. Internal bleeding is a common complication of angiomyolipomas. [from MedlinePlus Genetics]

Clinical features

From HPO
Pulmonary lymphangiomyomatosis
MedGen UID:
852455
Concept ID:
C0238399
Finding
Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLymphangiomyomatosis
Follow this link to review classifications for Lymphangiomyomatosis in Orphanet.

Professional guidelines

Recent clinical studies

Etiology

Liu L, Dehner C, Grandhi N, Lyu Y, Borcherding DC, Chrisinger JSA, Zhang X, Luo J, Tao Y, Parkes A, Bui NQ, Davis EJ, Milhem MM, Monga V, Weiss M, Tine BV, Hirbe AC
Genes (Basel) 2022 Oct 24;13(11) doi: 10.3390/genes13111932. PMID: 36360169Free PMC Article
Mantovani S, Vannucci J, Bassi M, Mottola E, Venuta F, Anile M
Multimed Man Cardiothorac Surg 2021 Oct 13;2021 doi: 10.1510/mmcts.2021.061. PMID: 34767702
Pichi F, Massaro D, Serafino M, Carrai P, Giuliari GP, Shields CL, Veronese C, Ciardella AP, Nucci P
Retina 2016 Jun;36(6):1199-208. doi: 10.1097/IAE.0000000000000829. PMID: 26618803
Akkermans R
Lancet Respir Med 2013 Aug;1(6):443-4. Epub 2013 Aug 5 doi: 10.1016/S2213-2600(13)70173-5. PMID: 24429241
Sleiman C, Mal H, Jebrak G, Darne C, Meeus E, Dubois F, Luisetti M, Fournier M, Pariente R, Andreassian B
Am Rev Respir Dis 1992 Apr;145(4 Pt 1):964-6. doi: 10.1164/ajrccm/145.4_Pt_1.964. PMID: 1554228

Diagnosis

Abramov R, Rufizen L, Gilshtein H
Vasc Endovascular Surg 2023 Oct;57(7):756-759. Epub 2023 Mar 23 doi: 10.1177/15385744221144503. PMID: 36952511
Akkermans R
Lancet Respir Med 2013 Aug;1(6):443-4. Epub 2013 Aug 5 doi: 10.1016/S2213-2600(13)70173-5. PMID: 24429241
Aerts P, Van Fraeyenhoven L, Verschakelen J
J Belge Radiol 1992 Oct;75(5):404-5. PMID: 1487466
El Allaf D, Borlee G, Hadjoudj H, Henrard L, Marcelle R, van Cauwenberge H
Eur J Respir Dis 1984 Feb;65(2):147-52. PMID: 6698139
Shuman RL, Engelman R, Kittle CF
Ann Thorac Surg 1979 Jan;27(1):70-5. doi: 10.1016/s0003-4975(10)62975-x. PMID: 453961

Therapy

Abramov R, Rufizen L, Gilshtein H
Vasc Endovascular Surg 2023 Oct;57(7):756-759. Epub 2023 Mar 23 doi: 10.1177/15385744221144503. PMID: 36952511
Li F, Zhang Y, Lin Z, Yan L, Liu Q, Li Y, Pei X, Feng Y, Han X, Yang J, Zheng F, Li T, Zhang Y, Fu Z, Shao D, Yu J, Li C
Cell Death Dis 2022 Dec 21;13(12):1065. doi: 10.1038/s41419-022-05511-3. PMID: 36543771Free PMC Article
Bastu E, Akhan SE, Karamustafaoglu B, Gungor-Ugurlucan F, Sozen H, Iyibozkurt AC
Eur J Gynaecol Oncol 2013;34(3):278-9. PMID: 23967566
Morimoto N, Hirasaki S, Kamei T, Horiike A, Miyatake H, Ogita Y, Nakano H
Intern Med 2000 Sep;39(9):738-41. doi: 10.2169/internalmedicine.39.738. PMID: 10969906
Eisera NB, Venegoni E, Colombi R
J R Soc Med 1988 Oct;81(10):607-9. doi: 10.1177/014107688808101021. PMID: 3184096Free PMC Article

Prognosis

Liu L, Dehner C, Grandhi N, Lyu Y, Borcherding DC, Chrisinger JSA, Zhang X, Luo J, Tao Y, Parkes A, Bui NQ, Davis EJ, Milhem MM, Monga V, Weiss M, Tine BV, Hirbe AC
Genes (Basel) 2022 Oct 24;13(11) doi: 10.3390/genes13111932. PMID: 36360169Free PMC Article
Idogawa M, Hida T, Tanaka T, Ohira N, Tange S, Sasaki Y, Uhara H, Masumori N, Tokino T, Natori H
Cancer Biol Ther 2020 Apr 2;21(4):315-319. Epub 2019 Dec 17 doi: 10.1080/15384047.2019.1702406. PMID: 31847710Free PMC Article
Bastu E, Akhan SE, Karamustafaoglu B, Gungor-Ugurlucan F, Sozen H, Iyibozkurt AC
Eur J Gynaecol Oncol 2013;34(3):278-9. PMID: 23967566
Sleiman C, Mal H, Jebrak G, Darne C, Meeus E, Dubois F, Luisetti M, Fournier M, Pariente R, Andreassian B
Am Rev Respir Dis 1992 Apr;145(4 Pt 1):964-6. doi: 10.1164/ajrccm/145.4_Pt_1.964. PMID: 1554228
Kreisman H, Robitaille Y, Dionne GP, Palayew MJ
Cancer 1978 Jul;42(1):364-72. doi: 10.1002/1097-0142(197807)42:1<364::aid-cncr2820420155>3.0.co;2-m. PMID: 667807

Clinical prediction guides

Liu L, Dehner C, Grandhi N, Lyu Y, Borcherding DC, Chrisinger JSA, Zhang X, Luo J, Tao Y, Parkes A, Bui NQ, Davis EJ, Milhem MM, Monga V, Weiss M, Tine BV, Hirbe AC
Genes (Basel) 2022 Oct 24;13(11) doi: 10.3390/genes13111932. PMID: 36360169Free PMC Article
Powell RM, Pattison S, Moravec JC, Bhat B, Guirguis N, Markie D, Jones GT, Copedo J, Print CG, Morison IM, Gavryushkin A, Gray B, Wyeth LJ, Eccles MR, Macaulay EC
Cold Spring Harb Mol Case Stud 2022 Apr;8(3) Epub 2022 Apr 28 doi: 10.1101/mcs.a006182. PMID: 35483879Free PMC Article
Ogawa R, Miyagawa M, Ide K, Akamune A, Ohtsuki Y, Mochizuki T
Jpn J Radiol 2013 Sep;31(9):633-6. Epub 2013 Jun 2 doi: 10.1007/s11604-013-0221-9. PMID: 23729367
Aerts P, Van Fraeyenhoven L, Verschakelen J
J Belge Radiol 1992 Oct;75(5):404-5. PMID: 1487466
El Allaf D, Borlee G, Hadjoudj H, Henrard L, Marcelle R, van Cauwenberge H
Eur J Respir Dis 1984 Feb;65(2):147-52. PMID: 6698139

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