Lymphangioleiomyomatosis (LAM)

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Disease Ontology 12 DOID:3319 OMIM 56 606690 KEGG 36 H00896 MeSH 43 D018192 NCIt 49 C38153 MESH via Orphanet 44 D018192 ICD10 via Orphanet 33 D48.7

UMLS via Orphanet 72 C0751674 Orphanet 58 ORPHA538 MedGen 41 C0751674 SNOMED-CT via HPO 68 102867009 112629002 124975008 128613002 167239007 21522001 230145002 230745008 233890005 234097001 246545002 248274002 253883006 254244007 254921004 263731006 264561009 267036007 272039006 29857009 30213001 30746006 313307000 34436003 36118008 36485005 386661006 386806002 389026000 46621007 49727002 50177009 53298000 66857006 6686005 73017001 74474003 76976005 83035003 84229001 84757009 87433001 91175000 more EFO 17 EFO_1000334 UMLS 71 C0349649 C0751674

Genetics Home Reference : ²⁵ 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.

MalaCards based summary : Lymphangioleiomyomatosis, also known as lymphangiomyomatosis, is related to tuberous sclerosis 1 and kidney angiomyolipoma. An important gene associated with Lymphangioleiomyomatosis is TSC2 (TSC Complex Subunit 2), and among its related pathways/superpathways are p53 signaling pathway and mTOR signaling pathway. The drugs Doxycycline and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include lung, kidney and smooth muscle, and related phenotypes are dyspnea and restrictive ventilatory defect

NIH Rare Diseases : ⁵² Lymphangioleiomyomatosis (lim-FAN-je-o-LI-o-MI-o-ma-TO-sis), or LAM, is a rare cystic lung disease that mostly affects women in their mid-forties. In LAM, an unusual type of cell begins to grow out of control throughout the body, including in the lungs, lymph nodes and vessels, and kidneys. Over time, these LAM cells form cysts and clusters of cells, which grow throughout the lungs and slowly block the airways. They also destroy the normal lung tissue and replace it with cysts. As a result, air cannot move freely in and out of the lungs, and the lungs cannot supply enough oxygen to the body's other organs . Some people also develop growths called angiomyolipomas (AMLs) in the kidneys. There are two forms of LAM - a sporadic form, which occurs for unknown reasons, and a form that occurs in people with a rare, inherited disease called tuberous sclerosis complex . LAM may be difficult to diagnosis in the early stages because symptoms may be similar to other lung diseases. A high resolution CT scan is the most accurate imaging test for diagnosing LAM. Additional testing may include an abdominal CT scan or ultrasound , a VEGF-D blood test (measuring the VEGF-D hormone , which would typically be high), and a lung biopsy . There are several management options for LAM, but the best course of treatment may vary from person to person. Treatment options may include therapy with an mTOR inhibitor (such as sirolimus ), and supportive measures such as oxygen therapy or the use of bronchodilators . Some people may need a lung transplant when lung function is considerably impaired.

KEGG : ³⁶ Lymphangioleiomyomatosis (LAM) is a rare lung disease, primarily affecting women. Abnormal proliferation of smooth muscle-like cells (LAM cells) within the lung is responsible for cystic destruction of the lung parenchyma and leads to chronic respiratory failure. Another characteristic feature of the disease is the development of fluid-filled lymphatic cystic structures (lymphangioleiomyomas) in the axial lymphatics and of angiomyolipomas in the kidneys. Its presentation is sporadic or associated with tuberous sclerosis complex, a dominant autosomal neurocutaneous syndrome. Both disorders have their origin in mutations of the tuberous sclerosis genes TSC1 and TSC2, which are involved in the regulation of cell signs critical for energy control and cell nutrition processes.

UniProtKB/Swiss-Prot : ⁷³ Lymphangioleiomyomatosis: Progressive and often fatal lung disease characterized by a diffuse proliferation of abnormal smooth muscle cells in the lungs. It affects almost exclusively young women and can occur as an isolated disorder or in association with tuberous sclerosis complex.

PubMed Health : ⁶² About lam: LAM, or lymphangioleiomyomatosis (lim-FAN-je-o-LI-o-MI-o-ma-TO-sis), is a rare lung disease that mostly affects women of childbearing age. In LAM, abnormal, muscle-like cells begin to grow out of control in certain organs or tissues, especially the lungs, lymph nodes, and kidneys. Over time, these LAM cells can destroy the normal lung tissue. As a result, air can’t move freely in and out of the lungs. In some cases, this means the lungs can’t supply the body’s other organs with enough oxygen.

Wikipedia : ⁷⁴ Lymphangioleiomyomatosis (LAM) is a rare, progressive and systemic disease that typically results in... more...

More information from OMIM: 606690

Clinical features from OMIM:

606690

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance	GR00210-A	9.63	IGF1R MTOR RPS6KB1 VEGFA VEGFC VEGFD
2	Decreased viability with paclitaxel	GR00179-A-1	9.35	MTOR RPS6KB1
3	Decreased viability with paclitaxel	GR00179-A-2	9.35	MTOR
4	Decreased viability with paclitaxel	GR00179-A-3	9.35	MTOR RPS6KB1
5	Reduced mammosphere formation	GR00396-S	9.17	CTSK DES IGF1R MMP2 MTOR RPS6

Currently, no treatment is available to stop the growth of the cysts and cell clusters that occur in LAM. Most treatments for LAM are aimed at easing symptoms and preventing complications. The main treatments are: Medicines to improve air flow in the lungs and reduce wheezing Oxygen therapy Procedures to remove fluid from the chest or abdomen and stop it from building up again Procedures to shrink angiomyolipomas (AMLs) Lung transplant Hormone therapy

Search NIH Clinical Center for Lymphangioleiomyomatosis

Search GEO for disease gene expression data for Lymphangioleiomyomatosis.