LAM AFRICA

About LAM

Significant strides have been made in understanding, diagnosing and treating symptoms and complications of LAM in the last 10 years.  Still, there is an urgent need to:

• Increase awareness about LAM in the medical and lay communities;
• Ensure that women get a proper diagnosis;
• Dedicate research funding to find a safe and effective treatment for LAM and ultimately, a cure.

Facts About Lymphangioleiomyomatosis (LAM)

• Symptoms may include shortness of breath, collapsed lung, chest pain, cough, or fatigue.
• Up to 50% of women with LAM have a benign kidney tumor called angiomyolipoma.
• LAM usually does not appear on an x-ray. A high-resolution CT scan of the chest, and often the abdominal area, is required for accurate diagnosis.
• LAM results in progressive destruction of healthy lung tissue caused by cyst formation and abnormal growth of smooth muscle cells, not usually found in the lungs.
• Lung capacity progressively declines, resulting in the need for oxygen therapy.
• Women often go undiagnosed for years, and are frequently misdiagnosed with asthma, bronchitis, or emphysema.
• The discovery of a genetic link between LAM and tuberous sclerosis (TS) leads scientists to estimate that more than 250,000 women worldwide are unaware they have LAM.
• Since LAM occurs almost exclusively in women, the disease is thought to be hormonally-related.
• Many doctors think pregnancy accelerates the disease

• There is no cure and no treatment that has proven to be effective, but treatment trials are underway.

 How common is LAM?
The exact number of people living with LAM is not known. Though just 1,500 cases of LAM have been identified, scientists estimate that as many as 250,000 women may be going undiagnosed or misdiagnosed because of the commonality of the symptoms, which are similar to those of asthma, bronchitis or emphysema.

What causes LAM? 
LAM Foundation investigator, Dr. Elizabeth Henske, discovered that LAM is caused by mutations in tuberous sclerosis genes. Tuberous sclerosis (TS) is another rare disease which causes tumors to form in many organs, particularly the kidney. There may be other causes of LAM, but we do know that there is a genetic link between LAM and tuberous sclerosis.

Benign angiomyolipomas (kidney tumors) are the most common TS lesions, occurring in 70 to 80 percent of TS adults and older children. Approximately 40 percent of LAM patients have these kidney tumors.

While women with LAM do not develop the central nervous system and skin changes of TS, the similarities in the lung and kidney manifestations of the two diseases have led some investigators to think that they may have common causes. 

Although there is currently no treatment or cure for LAM, the clinical treatment trial for women with LAM is now enrolling patients in the US AND Canada. we hope that lam Africa will also help bring research closer to home.