Blood Test Identifies Lymphangioleiomyomatosis, Eliminates Need for Biopsy

A diagnostic blood test successfully identified Lymphangioleiomyomatosis (LAM), a rare lung disease.

The test was used to analyze the amount of the protein vascular endothelial growth factor-D (VEGF-D) in patients' blood. VEGF-D promotes the growth of lymphatic vessels and blood vessels and can be involved in the spread of cancer.

VEGF-D testing was performed in 195 women and the results showed that serum VEGF-D levels were significantly greater in women with LAM than in women with other lung diseases or healthy individuals. When they prospectively evaluated the VEGF-D test performance in women prior to knowing their diagnosis, the test showed high accuracy for diagnosis of LAM. Negative VEGF-D results however, do not exclude the diagnosis of LAM.

A rare but serious lung disease that affects women, LAM causes shortness of breath and lung collapse, called a pneumothorax. The disease occurs with the invasion of the lungs of a neoplastic cell having a smooth muscle cell phenotype (LAM cell) that causes tissue destruction by creating holes or cysts in the lung. Women often go undiagnosed for years, and are frequently misdiagnosed with asthma, bronchitis, or emphysema. The disease can be fatal.

The study findings were published in the July 6, 2010, edition of the journal Chest. Lisa Young, MD, lead author on the study and investigator at the University of Cincinnati (UC; Cincinnati, OH, USA) and Cincinnati Children's Hospital Medical Center, (Cincinnati, OH, USA) said that the findings will help the diagnosis of LAM. They could also be helpful in screening for LAM in women with Tuberous Sclerosis Complex (TSC), a genetic disorder that causes tumors to form in many different organs. TSC is a risk factor for the development of LAM.

To learn more about LAM, visit the LAM Foundation (please see related links below).

Related Links:
University of Cincinnati
Cincinnati Children's Hospital Medical Center
LAM Foundation