LAM for GPs series introduced and narrated by Carol Hirschfeld
The Family Doctor
Freemans Bay GP Christine Forster and her patient Jess talk about dealing with the rare lung disease Lymphangioleiomyomatosis, also known as LAM.
To find out more about Dr Forster and LAM view the LAM webisodes.
Dr John Kolbe sees several patients with LAM. In this video from the NZ LAM Trust’s web series LAM for GPs, Dr Kolbe talks about presenting symptoms and treatment.
To find out more see the full interview with Dr John Kolbe.
LAM affects almost exclusively women of child-bearing age so it’s not surprising that pregnancy is an issue that needs careful consideration. This video sets out what is known about pregnancy for women with LAM, including a study conducted by Professor Simon Johnson from the UK National Centre for LAM.
Spreading the word
Auckland doctor Christine Forster briefs her colleagues about LAM. Speaking at the Goodfellow Symposium, Dr Forster said it was essential that doctors are aware of the disease.
Lung Transplantation is an option for women with Lymphangioleiomyomatosis. In this video from the NZ LAM Trust’s web series LAM for GPs, key members of Auckland’s lung transplant team explain what is involved.
What Doctors Should Know
LAM affects almost exclusively women of child-bearing age. It can be treated, especially if diagnosed early, so it’s essential that GPs are aware of the disease. In this video from the NZ LAM Trust’s web series LAM for GPs, people who know about LAM the key facts that doctors should know about LAM.
Emergency Medicine Quick Facts for LAM Patients
Lymphangioleiomyomatosis (LAM) is a rare lung disease that results in diffuse cystic changes in the lung parenchyma. LAM has been found to be caused by growth promoting mutations in tuberous sclerosis complex (TSC) genes. LAM is associated with recurrent pneumothoraces, chylous pleural effusions, progressive respiratory failure and abdominal tumors including lymphangiomyomas or angiomyolipomas which can spontaneously hemorrhage resulting in pain, anemia and hypotension.
A pneumothorax in a LAM patient should generally be managed with chest tube drainage followed by pleurodesis on the first event. Cystic changes due to LAM are often not apparent on chest x-ray. High resolution CT scanning of the chest is the most definitive imaging test for LAM.
Pleural effusions in patients with LAM usually represent chylothorax. If necessary, this may be verified by thoracentesis and assessment of pleural fluid triglycerides and cholesterol.
Renal angiomyolipomas may bleed spontaneously, producing flank pain, hematuria, hypotension, and anemia. Lymphangiomyomas may present as low density abdominal lesions that mimic lymphoma or other malignancies.
If the patient is to undergo anesthesia – the anesthesiologist should be advised that the patient is at risk for a pneumothorax with positive pressure ventilation.
Many LAM patients are on sirolimus, a drug that can impair wound healing in the event of urgent surgery. Sirolimus should usually be held in situations where optimal wound healing is necessary. Sirolimus can also produce lung injury, immunosuppression, mouth ulcers, peripheral edema, acne like lesions and elevations of cholesterol.
Diagnostic Test Can Identify Rare Lung Disease
CINCINNATI – Researchers at the University of Cincinnati and Cincinnati Children’s Hospital Medical Center have found that a certain blood test can successfully identify lymphangioleiomyomatosis (LAM) in some patients, eliminating the need for surgical lung biopsy to make a diagnosis.
These findings are being published in the July 6, 2010, edition of the journal CHEST.
LAM is a rare but serious lung disease that affects women, causing shortness of breath and lung collapse, called a pneumothorax. The disease occurs when an unusual type of cell invades the lungs and causes tissue destruction by creating holes or cysts in the lung. It can be fatal.
Lisa Young, MD, lead author on the study and researcher at UC and Cincinnati Children’s, says that these findings will help with diagnosing LAM and may 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.
In this study, the test was used to analyze the amount of a specific protein—vascular endothelial growth factor-D, or 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.
Researchers performed VEGF-D testing in 195 women and found 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.
“We concluded that a serum VEGF-D level of greater than 800 pg/mL (picograms, or one-trillionth of a gram, per milliliter) in women with typical cystic changes on a high-resolution computed tomography (CT) scan is diagnostically specific for sporadic LAM and identifies LAM in women with TSC,” Young says. “However, negative VEGF-D results do not exclude the diagnosis of LAM.”
Frank McCormack, MD, senior author and director of pulmonary, critical care and sleep medicine at UC, says that Serum VEGF-D measurement is currently performed as part of a research protocol but will soon be available for clinical application
“This was a team effort by clinicians around the world to collect blood samples and clinical data from patients with very rare lung diseases,” he says. “Through their efforts and the generosity of patients who participated, we are optimistic that serum VEGF-D will join the ranks of diagnostic tests for lung disease, reduce the need for surgical lung biopsy and allow for intervention and trial recruitment earlier in the disease course.”
This study was funded by a pilot project grant from The LAM Foundation, The Tante Mela Foundation and a grant from the National Heart, Lung, and Blood Institute
To learn more about LAM and ongoing research, visit thelamfoundation.org.
Critical information for General Practitioners
2006 Abstract by S.R. Johnson
Division of Therapeutics and Molecular Medicine, University Hospital, Queens Medical Centre, Nottingham NG7 2UH UK
Lymphangioleiomyomatosis (LAM) ia a rare disease of the lungs and lymphatics, which can occur sporadically or in association with tuberous sclerosis. LAM almost exclusively affects females, generally developing before menopause… > more