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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

Tsukita H, Koyama K, Ishinari T, Takahashi A, Miyabe K, Umakoshi M, Yoshida M, Kudo-Asabe Y, Nishida A, Otsuka N, Yasui O, Kato I, Fukushima N, Goto A
Diagn Pathol 2024 Apr 15;19(1):59. doi: 10.1186/s13000-024-01485-2. PMID: 38622713Free PMC Article
Mitilian D, Sage E, Puyo P, Bonnette P, Parquin F, Stern M, Fischler M, Chapelier A; Foch Lung Transplant Group
Eur J Cardiothorac Surg 2014 Feb;45(2):365-9; discussion 369-70. Epub 2013 Jul 30 doi: 10.1093/ejcts/ezt353. PMID: 23900745
Hornick JL, Fletcher CD
Histopathology 2006 Jan;48(1):75-82. doi: 10.1111/j.1365-2559.2005.02316.x. PMID: 16359539
Oliva E, Clement PB, Young RH
Adv Anat Pathol 2000 Sep;7(5):257-81. doi: 10.1097/00125480-200007050-00001. PMID: 10976906
Corrin B, Liebow AA, Friedman PJ
Am J Pathol 1975 May;79(2):348-82. PMID: 1146965Free PMC Article

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
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
Buckley KM, DeLuca SA
Am Fam Physician 1995 Mar;51(4):831-3. PMID: 7887359
Johnson SF, Davey DD, Cibull ML, Schwartz RW, Strodel WE
Am Surg 1993 Jul;59(7):395-9. PMID: 8323071
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
Zhang L, Xie T, Li Y, Zhang B, Fu Y, Ding Y, Wu H
Chron Respir Dis 2022 Jan-Dec;19:14799731221133389. doi: 10.1177/14799731221133389. PMID: 36206158Free PMC Article
Shi Y, Jiao C, Lu X, Nie Y, Li X, Han D
Orphanet J Rare Dis 2022 Sep 9;17(1):349. doi: 10.1186/s13023-022-02511-6. PMID: 36085075Free PMC Article
Mitilian D, Sage E, Puyo P, Bonnette P, Parquin F, Stern M, Fischler M, Chapelier A; Foch Lung Transplant Group
Eur J Cardiothorac Surg 2014 Feb;45(2):365-9; discussion 369-70. Epub 2013 Jul 30 doi: 10.1093/ejcts/ezt353. PMID: 23900745

Prognosis

Mitilian D, Sage E, Puyo P, Bonnette P, Parquin F, Stern M, Fischler M, Chapelier A; Foch Lung Transplant Group
Eur J Cardiothorac Surg 2014 Feb;45(2):365-9; discussion 369-70. Epub 2013 Jul 30 doi: 10.1093/ejcts/ezt353. PMID: 23900745
Hornick JL, Fletcher CD
Am J Surg Pathol 2008 Apr;32(4):493-501. doi: 10.1097/PAS.0b013e318161dc34. PMID: 18223480
Hornick JL, Fletcher CD
Histopathology 2006 Jan;48(1):75-82. doi: 10.1111/j.1365-2559.2005.02316.x. PMID: 16359539
Mboyo A, Flurin V, Foulet-Roge A, Bah G, Orain I, Weil D
J Pediatr Surg 2004 Oct;39(10):1586-9. doi: 10.1016/j.jpedsurg.2004.06.034. PMID: 15486914
Buckley KM, DeLuca SA
Am Fam Physician 1995 Mar;51(4):831-3. PMID: 7887359

Clinical prediction guides

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
Mitilian D, Sage E, Puyo P, Bonnette P, Parquin F, Stern M, Fischler M, Chapelier A; Foch Lung Transplant Group
Eur J Cardiothorac Surg 2014 Feb;45(2):365-9; discussion 369-70. Epub 2013 Jul 30 doi: 10.1093/ejcts/ezt353. PMID: 23900745
Hornick JL, Fletcher CD
Histopathology 2006 Jan;48(1):75-82. doi: 10.1111/j.1365-2559.2005.02316.x. PMID: 16359539
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
Corrin B, Liebow AA, Friedman PJ
Am J Pathol 1975 May;79(2):348-82. PMID: 1146965Free PMC Article

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