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<p>Lymphangioleiomyomatosis (LAM) is a&#xa0;very rare form of cystic lung disease with a severe course that almost exclusively affects women. It is characterized by the growth of abnormal smooth muscle cells in the lungs, leading to cyst formation and destruction of lung tissue. In addition to the lungs, LAM cells can also invade abdominal structures. Exertional dyspnea, often recurrent and rarely bilateral spontaneous pneumothorax, chest pain and airway obstruction can be characteristic of LAM, less common are hemoptysis and chylothorax. There are two forms of this disease mechanism: sporadic LAM (S-LAM), which is caused by a&#xa0;somatic mutation and tuberous sclerosis-associated LAM (TSC-LAM), which is manifested due to a&#xa0;germline mutation of the TSC gene&#xa0;1 or&#xa0;2. This leads to a lack of inhibition and therefore to a functional overactivation of the mechanistic target of rapamycin (mTOR) signaling pathway, resulting in smooth muscle cell proliferation and increased tissue remodeling with destruction, e.g., of the lung parenchyma with the formation of diffusely distributed cysts. The treatment of the disease focuses on restoring the inhibition of the mTOR signaling pathway with sirolimus or everolimus. These mTOR complex 1 (mTORC1) inhibitors slow down the disease progress but do not eliminate the LAM cells and do not therefore represent a cure. Approaches for the elimination of the LAM cells are a&#xa0;focus of current research. Without treatment severe hypoxemia and complications can occur in the long term. Treatment significantly mitigates the course and in individual cases a lung transplantation must be considered.</p>

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Lymphangioleiomyomatose

  • 期刊论文

  • 发表日期：

    2025年3月7日

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  • Maxi Bergner,
  • Hubert Wirtz

摘要

Lymphangioleiomyomatosis (LAM) is a very rare form of cystic lung disease with a severe course that almost exclusively affects women. It is characterized by the growth of abnormal smooth muscle cells in the lungs, leading to cyst formation and destruction of lung tissue. In addition to the lungs, LAM cells can also invade abdominal structures. Exertional dyspnea, often recurrent and rarely bilateral spontaneous pneumothorax, chest pain and airway obstruction can be characteristic of LAM, less common are hemoptysis and chylothorax. There are two forms of this disease mechanism: sporadic LAM (S-LAM), which is caused by a somatic mutation and tuberous sclerosis-associated LAM (TSC-LAM), which is manifested due to a germline mutation of the TSC gene 1 or 2. This leads to a lack of inhibition and therefore to a functional overactivation of the mechanistic target of rapamycin (mTOR) signaling pathway, resulting in smooth muscle cell proliferation and increased tissue remodeling with destruction, e.g., of the lung parenchyma with the formation of diffusely distributed cysts. The treatment of the disease focuses on restoring the inhibition of the mTOR signaling pathway with sirolimus or everolimus. These mTOR complex 1 (mTORC1) inhibitors slow down the disease progress but do not eliminate the LAM cells and do not therefore represent a cure. Approaches for the elimination of the LAM cells are a focus of current research. Without treatment severe hypoxemia and complications can occur in the long term. Treatment significantly mitigates the course and in individual cases a lung transplantation must be considered.