LAM 101

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LAM 101

• Jean M. Elwing, MD
• University of Cincinnati
• April 17, 2009

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Overview

• What is LAM?
• How many people have LAM?
• How does it effect my lungs / lymphatics /
  kidneys?
• Why does it make you breathless?
• How are LAM and tuberous sclerosis related?
• How can your doctor treat and monitor LAM?

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What is LAM?

• lymph lymphatics
• angio blood vessels
• leiomyo smooth muscle
• matosis a condition

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Lymphangioleiomyomatosis
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What is the difference?

• Lymphangioleiomyomatosis
• Lymphangiomyomatosis

• None

• There is a disease called lymphangiomatosis
  that is different

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What is LAM?

• A build up of LAM cells in the lungs and
  lymphatics
• LAM cells dont stop growing like normal cells
• LAM cells travel in the blood and lymph

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How many people have LAM?

• Sporadic LAM
• 2-6 per million
• 30-50,000 women
• Women 16-65 years one per 373,000
• TSC - LAM
• 1 million people who have TSC
• 50 are women
• 30-40 of adult women with TSC have LAM
• Most dont have symptoms

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What do these stand for?

• Dx

• Diagnosis

• Bx

• Biopsy

• CXR

• Chest x-ray

• CT

• Cat Scan

• Treatment

• Tx

• Angiomyolipoma

• AML

• Pneumothorax

• PTx

• S-LAM

• Sporadic LAM

• Tuberous sclerosis-LAM

• TSC-LAM

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How does LAM effect my lungs?

• Abnormal cells build up in the lungs
• Cells produce proteins which cause cysts
• Cysts and LAM cells cause breathlessness

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Where do LAM cells come from?

• Nobody knows
• But
• There is genetic evidence that in some patients
  they may come from another site in the body,
  maybe angiomyolipomas, lymph nodes

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How can smooth muscle cells do this?
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This is a smooth muscle cell
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Healthy tissuessmooth muscle cells line up
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Healthy smooth muscle tissue is organized
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Smooth muscle surrounds blood vessels, airways
and lymphatics
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LAM smooth muscle cells are haphazardly arranged
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Can you tell the difference?

• LAM smooth muscles cells do not follow the normal
  patterns when they surround blood vessels,
  airways and lymphatics

Smooth Muscle Cells
LAM Smooth Muscle Cells
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How does LAM affect my lungs?

• Cysts
• Reduce oxygen uptake
• Traps air
• Increases risk for pneumothorax
• Pneumothorax
• Chylous effusion
• Airway narrowing

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LAM on CT Chest
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Lung Cysts and Bulla
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A bulla is a large cyst, a bleb is a blister like
spot on the pleural surface
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Pneumothorax

• Blebs/cysts can leak air causing pneumothorax
• Pneumothorax in LAM can be difficult to treat

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How does LAM affect my lungs?

• Cysts
• Reduce oxygen uptake
• Traps air
• Increases risk for pneumothorax
• Pneumothorax
• Chylous effusion
• Airway narrowing

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What is a Pneumothorax?
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Right sided pneumothorax
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Right sided pneumothorax on CT
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How do I know if I have a pneumothorax?

• Persistent shortness of breath
• Persistent chest, shoulder, back or abdominal
  pain
• CXR is a very good test for a pneumothorax
• But... a pneumothorax is sometimes only visible
  on CT

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Why cant you see all pneumothorax on CXR?
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What are the treatments for Pneumothorax?

• Sometimes observation only
• Oxygen
• Needle aspiration
• Chest tube drainage
• Pleurodesis

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What is pleurodesis?

• A procedure to fuse the lung to the chest wall so
  that it wont collapse again

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How does LAM affect my lungs?

• Cysts
• Reduce oxygen uptake
• Traps air
• Increases risk for pneumothorax
• Pneumothorax
• Chylous effusion
• Airway narrowing

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Why do chylous effusions occur?

• LAM cells can block lymph flow
• This occurs in the lung and other lymph channels

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Where are the lymphatics?

• Removal of fluid from tissues
• Transports fatty acids and fats as chyle to the
  circulatory system.
• Immune systems

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What is chylous effusion?
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Chest tubes drain the pleural space
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How does LAM affect my lungs?

• Cysts
• Reduce oxygen uptake
• Traps air
• Increases risk for pneumothorax
• Pneumothorax
• Chylous effusion
• Airway narrowing

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Smooth muscle surrounds airways
Narrowing of the airways may be caused by the
growth of LAM cells
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How does LAM affect my kidneys?
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Abdominal LAM

• About 50 of people with LAM have an
  angiomyolipoma (AML)
• About 70-80 people with TSC-LAM have an AML
• Most are small and dont cause symptoms
• Contain blood vessels, LAM smooth muscle cells
  and fat

Angiomyolipoma
Angiomyolipoma
Angiomyolipoma
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What about the kidney tumors?

• Many never cause problems

• If it causes a problem, its usually due to
  bleeding

• Bleeding can usually be controlled nonsurgically
  by embolization

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Is LAM inherited?

• Yes
• Tuberous Sclerosis (TSC)
• 1/3 Inherited --- 2/3 new mutations
• Tuberous Sclerosis-LAM (TSC-LAM)
• Very rarely can be inherited
• Few cases reported in the medical literature
• No
• Sporadic LAM (S-LAM)
• Cannot be inherited

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What are the genetics of LAM?
Germ cells
LAM cells
TSC-LAM
?
S-LAM
Somatic mutations
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What is tuberous sclerosis (TSC)?

• A disease of multiple benign tumours
• skin, brain, kidneys, heart, LAM
• Diagnosis
• Clinical evaluation
• Tests CT MRI brain

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What can I do for my LAM?

• Healthy lifestyle
• Pulmonary rehabilitation
• Flu vaccination
• Pneumonia Vaccination
• NO Smoking
• This increases the loss of lung function

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Is there any directed treatment?

• Unclear at this point
• Further study is ongoing
• Close follow up with a pulmonary physician

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What are PFTs and which are the important ones?
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Spirometry

• FEV1-forced expiratory volume one-the volume of
  air that is forcibly exhaled in one second
• FVC-forced vital capacity-the volume of air that
  is forcibly exhaled over infinite time
• FEV1/FVC-the ratio of volume exhaled in one
  second, to all volume exhaled over infinite time

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Simple spirometry
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Spirometry

• Rate of decline in FEV1 is an index of disease
  progression
• Normal women lose about 10-25 mls of FEV1 per
  year
• Women with LAM lose about 100 mls per year (1/3rd
  of a coke can)
• Patients who smoke lose about 70 mls per year

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Helium dilution can be used to determine the
volume of gas in the lung at rest
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Diffusion capacity for carbon monoxide (DLCO)

• Assesses the integrity of the pulmonary capillary
  bed
• Measure the absorption of a trace amount of
  carbon monoxide into the lungs, as a means to
  measure ease of oxygen uptake

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Diffusion capacity for carbon monoxide (DLCO)

• Most LAM patients have a reduced DLCO
• Reduction in DLCO correlates with severity of
  disease
• Isolated readings can vary, it is trends that are
  important

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Any questions?

• Thanks to Drs. McCormack, Young and Johnson
  sharing slides for this presentation.