Lymphangioleiomyomatosis (LAM) is an indolent, progressive development of lung-wide smooth muscle cells, pulmonary blood vessels, lymph, and pleurae. It is uncommon and only occurs in young people.

CAUSES

The condition typically develops naturally but LAM bears many parallels to tuberous sclerosis (TS) pulmonary findings. Mutations in the complex-2 gene (TSC-2) of tuberous sclerosis have been identified in LAM cells and angiomyolipomas that occur in up to 50% of LAM patients. Those observations indicate 1 out of 2 options:

  • Somatic mosaicism for TSC-2 mutations within the lungs and kidneys results in foci of disease superimposed against a background of normal cells within these tissues.
  • LAM represents a low-grade, destructive, metastasizing neoplasm, perhaps of uterine origin, that spreads through the lymphatic system.

PATHOPHYSIOLOGY

The proliferation of cells with lymphangioleiomyomatosis (LAM) can obstruct bronchioles, leading to obstruction of the airflow, air trapping, bullae formation, and pneumothoraces. The lymphatic blockage may lead to lymphangioleiomyomas, chylothorax, and chylous ascites. Excessive proteolytic activity involving an imbalance of the elastase / alpha1-antitrypsin system or metalloprotease (MMPs) system and its inhibitors may be important in the degradation and development of cysts in the lung.

CLINICAL MANIFESTATIONS

  • Dyspnea
  • Cough
  • Chest Pain
  • Hemoptysis
  • Pneumothorax

DIAGNOSIS

  • Chest X-Ray
  • VEGF – D Testing
  • Lung Biopsy

TREATMENT

NON-PHARMACOLOGICAL TREATMENT

  • Oxygen therapy
  • Pulmonary Rehabilitation
  • Removal of air or fluid around the lungs or abdomen to help you breathe better
  • Surveillance and treatment of osteoporosis
  • Standard vaccinations to prevent respiratory infections
  • Bronchodilators to help open airways and improve breathing

PHARMACOLOGICAL TREATMENT

  • Sirolimus (rapamycin). The only medication that may be helpful in treating LAM is sirolimus. This medication may help to improve lung function, reduce symptoms, and shrink kidney tumours.
  • Hormones. Because LAM occurs only in younger women and tends to get worse during pregnancy, some physicians recommend treatment to reduce the effects of estrogens.

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