What is Lung Lymphangioleiomyomatosis?
Lymphangioleiomyomatosis, or LAM, is a rare and progressive lung disease that primarily affects women of childbearing age. It is caused by the abnormal growth of smooth muscle-like cells—called LAM cells—in the lungs, kidneys, and lymphatic system. Over time, these cells damage lung tissue and form cysts, which interfere with normal breathing and reduce the lungs’ ability to supply oxygen to the body.
Causes and Risk Factors
LAM affects approximately 3 to 8 women per million worldwide. It is most commonly diagnosed in women between the ages of 20 and 40.
The exact cause of LAM is not fully understood, but it is associated with mutations in the TSC1 or TSC2 genes, which are involved in cell growth regulation. These genetic changes may occur spontaneously or in association with a condition called tuberous sclerosis complex (TSC).
Hormonal factors may also play a role. LAM is more common in women taking estrogen-based medications, those undergoing hormone replacement therapy, or during pregnancy. The risk of LAM tends to decrease after menopause.
Signs and Symptoms
Common symptoms of LAM include:
- Shortness of breath
- Chest pain
- Chronic cough
Pleural effusion (buildup of fluid around the lungs, leading to breathing difficulties)
How is LAM Diagnosed?
LAM is diagnosed using a combination of clinical evaluation and specialised tests:
- Medical History: A detailed history of respiratory symptoms, past treatments, and any exposure to environmental factors.
- Physical Examination: A thorough exam to check for signs of lung abnormalities, including swollen lymph nodes or chest lesions.
- Imaging Tests: High-resolution CT scans or MRIs can reveal lung cysts and help assess disease progression.
- Biopsy: A tissue sample may be taken from the lungs or lymph nodes to confirm the presence of LAM cells.
- Fine Needle Aspiration (FNA): A minimally invasive way to collect tissue for analysis, especially when abnormalities are easily accessible.
- Immunohistochemistry: This test uses antibodies to identify LAM cells in tissue samples.
- VEGF-D Blood Test: Elevated levels of VEGF-D (vascular endothelial growth factor D) in the blood can help distinguish LAM from other lung diseases.
Treatment Options
While there is currently no cure for LAM, several treatments can help manage the disease:
- Surgery: In some cases, removal of affected tissue may be necessary, especially when a mass or tumour is present.
- Medication: Drugs like sirolimus (rapamycin) can slow disease progression by targeting the abnormal cell growth.
- Supportive Therapy: Oxygen therapy, pulmonary rehabilitation, and lifestyle changes may help manage symptoms.
- Hormone Management: Limiting estrogen exposure may be recommended in some cases.
- Advanced Therapies: In severe cases, lung transplantation may be considered.
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