What is LAM Disease also known as Lymphangioleiomyomatosis?

LAM disease, or lymphangioleiomyomatosis, is a rare, progressive lung disease that usually affects women of childbearing age. The disease is characterized by an abnormal growth of smooth muscle cells, particularly in the lungs, kidneys and lymphatic system (the network of vessels through which lymph [fluid made of white blood cells] drains from the tissues into the blood). Unfettered growth of these cells can lead to decreased lung function, a build-up of lymph-rich fluid in the chest and abdomen and kidney tumors. There is no cure for LAM disease, although treatment, which eventually includes oxygen therapy, may improve lung function in some women.^[1]

Forms of LAM Disease

There are two types of LAM disease: Sporadic LAM (S-LAM) and Tuberous Sclerosis LAM (TSC-LAM), which is associated with a rare disease called Tuberous Sclerosis Complex. S-LAM, a type of LAM not associated with TSC, is less common, affecting approximately 10,000 women worldwide. TSC-LAM, observed in about 30-40% of all women with TSC, occurs in more than 100,000 women worldwide. Although males can be diagnosed with LAM, there are very few documented cases of male TSC-LAM and even fewer documented cases of male S-LAM.^[2]

Diagnosis of LAM Disease

The most useful test for diagnosing LAM disease is a computed axial tomography (CAT) scan of the chest. Your doctor may also order specific blood tests, pulmonary function tests, a video-assisted thoracoscopic biopsy and other miscellaneous diagnostic tests.

Symptoms of LAM Disease

Often mistaken for asthma or chronic obstructive pulmonary disease (COPD), the most common symptom of LAM is shortness of breath upon exertion. However, because asthma and COPD are characterized by exacerbations and remissions typical in obstructive lung diseases, the absence of these distinct characteristics should trigger consideration of another diagnosis. Other symptoms of LAM include:²

• Pneumothorax – commonly referred to as a collapsed lung. Occurs in 70% of all LAM patients and tends to reoccur.
• Chylous pleural effusions – build-up of fluid in the lungs containing chyle, a milky bodily fluid consisting of lymph and emulsified fats. Occur in approximately 30% of all LAM patients.
• Abdominal tumors – approximately 30% of patients with S-LAM and 80% of patients with TSC-LAM have kidney tumors that contain fat. The same type of tumors can also occur in the spleen, chest, retroperitoneum and pelvis.
• Skin lesions – occur in patients with TSC-LAM, but not patients with S-LAM.
• Central nervous system problems – only occur in patients with TSC-LAM and may include seizures, impairment of the thought processes and behavioral abnormalities.
• Respiratory, abdominal and pelvic manifestations – including cough, vague chest pain, pleurisy, blood in mucus, bloating, vaginal discharge containing chyle, blood in urine and urinary urgency respectively.
• Fatigue – different than ordinary tiredness.
• Asthenia –abnormal physical weakness or lack of energy.

Treatment of LAM Disease

Because LAM disease usually progresses slowly, there is usually ample time for your doctor to develop a treatment strategy right for you. Those considered prime candidates for therapy include patients with moderate to severe disease, rapidly progressing disease and those with problems related to some of the disease’s symptom.² Treatment is based on the individual and may include:¹

• Medications such as sirolimus (Rapamune) and everolimus (Afinitor) may improve lung function in some women with LAM.
• Oxygen therapy is required for women with advanced lung disease.
• Lung transplantation may be an option for those with very advanced disease. It should be noted that, while lung transplant may add several years to a LAM patient’s life, it is not a cure for LAM disease.

 For more information about LAM disease, talk to your primary health care provider of pulmonologist.

_{[1] “What is LAM?” The LAM Foundation. Accessed July 29, 2018.}

_{[2] McCormack, Francis X. Lymphangioleiomyomatosis (include discussion of Tuberous Sclerosis and Birt-Hogg-Dube Syndrome. The Clinical Advisor: Pulmonary Medicine. Accessed July 29, 2018.}