Q: Do you have any information on LAMS disease? My sister-in-law was recently diagnosed. I understand this is a rare disease but don’t really know about it. Any information you may have would be greatly appreciated.
A: LAM is a shortened term for a 24 letter word known as lymphangioleiomyomatosis, a rare lung disease that typically occurs in pre-menopausal women of all races. This may suggest female hormone involvement in the disease pathogenesis. There have been reported cases of post-menopausal women having LAM, as well as rare cases in the male gender. Up to 50,000 women worldwide are believed to have sporadic pulmonary LAM.
Typical symptoms include dyspnea (difficulty breathing) and a cough. Less common symptoms are associated with lymphedema, pneumothorax, hematuria (blood in the urine), enlarged lymph nodes, and swelling of the abdomen. LAM causes destruction throughout the body, with major targeted areas in the lungs, kidneys and lymphatic system. The destruction that occurs is attributed to the clustering of the cysts and clusters of these abnormal cells in the organs involved. With time, patients may experience shortness of breath (particularly following any exercise), chest pain and collapsed lung(s). It is at this stage that permanent full time supplemental oxygen may be required.
Symptoms may mimic those of bronchitis, asthma, or emphysema. Hemoptysis (the coughing up of blood), chest/abdominal/flank pain, and difficulties breathing may occur. Diagnosis can be accomplished with imaging studies through a high resolution CT scan. Following the CT, the next test may be a lung biopsy.
LAM cells resemble those cells in the lungs of patients with a genetic disorder known as tuberous sclerosis complex (TSC). Almost 40% of women with TSC will also have LAM. In fact, 250,000 women worldwide have the LAM form that is linked to TSC. When TSC is not diagnosed in patients with LAM, the TSC is generally treatable. However, serious side effects may still occur, such a and may include kidney disease, seizures, and developmental delays.
The progression of LAM varies from person to person. Some individuals may advance to respiratory failure rather rapidly, while others may not reach that stage for 20 years or more. Almost all women will develop a collapsed lung that may recur, have lymph leak into the chest cavity, and develop growths known as angiomyolipomas in the kidneys so, while the prognosis may appear grim, research remains ongoing. Lung transplant can help some patients. The LAM Treatment Alliance is a non-profit organization with a mission to aggressively find an effective treatment and a larger goal to eradicate the disorder completely.