Davao Doctors College, Inc.

College of Allied Health Sciences

Nursing Program

Concept Mapping
Lymphangioleiomyomatosis
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College of Allied Health Sciences
Nursing Program
Davao Doctors College, Inc.
College of Allied Health Sciences
Nursing Program

Narrative

According to Ataya et al. (2023), Lymphangioleiomyomatosis (LAM) is a rare

lung disease that predominantly affects women, especially during their childbearing
years, occurring in 3-8 women per million in the general population. The condition
arises due to mutations in the tuberous sclerosis complex (TSC) genes, particularly
TSC1 and TSC2, which result in the growth of abnormal cells that travel through the
bloodstream and infiltrate the lungs, forming cysts within the lung tissue. These cysts
can impair breathing and oxygen uptake. Additionally, there is evidence that the
mutation of two genes involved in regulating cell migration and growth is involved in
both LAM and TSC. These genes are called TSC1 and TSC2. A defect in the TSC1
or TSC2 gene may prevent cells from behaving normally within the body and may
account for abnormal cell growth in the lung and other organs (Brigham and
Women’s Hospital, 2024). Several clinical observations also suggest that LAM
development and progression depend on estrogen signaling. LAM progression
seems to increase when estrogen levels are high, for example, during pregnancy or
in women taking exogenous estrogen via hormone replacement therapy, and slows
when estrogen levels decline, such as after menopause. In addition, in vitro and in
vivo studies support a role for estrogen in LAM progression (National Heart, Lung,
and Blood Institute, 2023).

Lymphangioleiomyomatosis (LAM) is characterized by the unregulated

proliferation of smooth muscle-like cells, called LAM cells, and mostly impacts the
lymphatic and pulmonary systems (Ellis, 2023). The disease process of LAM begins
when there is loss of function and mutation of two proteins (hamartin and tuberin),
which are coded with two genes called Tuberous sclerosis complex (TSC1) or TSC2,
that inhibit the target of the mTOR (mechanistic target of rapamycin) signaling
pathway (Lee, 2023). This pathway plays a crucial role in regulating the size and
proliferation of cells. This mutation leads to uncontrolled proliferation of LAM cells,
which then invade the smooth muscle layers of blood vessels, lymphatic vessels,
and airways in the lungs. As LAM cells proliferate, they form small nodules and cysts
throughout the lungs and lymphatic system (Shah, 2023). According to the American
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Lung Association (2022), these nodules and cysts disrupt normal lung tissue
architecture and impede the flow of air and fluids, leading to symptoms such as
shortness of breath, coughing, and recurrent pneumothorax (collapsed lung). Over
time, the progressive growth of LAM cells causes further damage to lung tissue,
leading to the development of fibrosis (scarring) and a decline in lung function (Lee,
2023). The abnormal proliferation of LAM cells can also affect lymphatic vessels,
leading to lymphatic obstruction and fluid accumulation in the chest and abdomen.

According to the American Lung Association (2022),

Lymphangioleiomyomatosis (LAM) is typically identified when a woman experiences
a pneumothorax or lung collapse. Pneumothorax leads to sharp chest pain and
shortness of breath, ranging from mild to severe. Even without a collapsed lung,
individuals can experience shortness of breath and may exhibit additional symptoms
like frequent coughing, enlarged lymph nodes, wheezing, and fatigue. Many women
diagnosed with LAM also experience hematuria, which is the presence of blood in
the urine. This occurrence can be attributed to the development of multiple
angiomyolipomas (AMLs) in the kidneys, which may lead to bleeding (Brigham and
Women’s Hospital, 2024).

To diagnose Lymphangioleiomyomatosis (LAM), as X-rays may not provide

sufficient detail, the doctor might request a CT scan to obtain a clearer image of the
lungs. Detailed images of the chest and abdomen are captured through a
High-resolution CT scan (HRCT).This scan examines the lung area affected by cysts
due to LAM and also evaluates the presence of angiomyolipomas (AMLs) in the
kidneys, abdominal organs, or lymph nodes. The six-minute walk test involves
walking for six minutes while being supervised by a healthcare professional who
monitors the oxygen saturation, heart rate, and the distance covered during the walk
(Brigham and Women’s Hospital, 2024). American Lung Association also stated that
lung function tests were used to assess the capacity of the lungs to breathe and
transfer oxygen by utilizing a spirometer. These tests also aid in determining the
extent of damage incurred by the lungs. And blood tests may be prescribed to
measure levels of vascular endothelial growth factor-D (VEGF-D). Approximately
70% of patients with LAM exhibit elevated levels of this protein. Therefore, it's
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advisable to assess VEGF-D levels before proceeding with more invasive

procedures.

Chest tube drainage is one method of treating a minor pneumothorax.

Pleurodesis is advised if the pneumothorax recurs or if the air leak continues. One
should contemplate a pleurectomy, either surgical or chemical, utilizing
video-assisted thoracoscopy. Chest tube drainage is one method of treating a minor
pneumothorax. Pleurodesis is advised if the pneumothorax recurs or if the air leak
continues. One should contemplate a pleurectomy, either surgical or chemical,
utilizing video-assisted thoracoscopy. Although there are no proven surgical
treatments for lymphphangioleiomyomatosis, continuous tube drainage of chylous
pleural effusions and ascites is the least advised course of treatment because it
compromises nutrition, causes protein loss and lymphopenia, increases the risk of
infections, and causes weight loss. Moreover, drainage may become continuous and
pleural symphysis may become challenging after a thoracostomy tube is inserted
into the pleural cavity. When patients start to exhibit symptoms, therapeutic
thoracentesis should be carried out. While surgical pleurodesis may be useful in
shrinking the effusion, it will not relieve the abdominal pain linked to
lymphangioleiomyomas and ascites. In order for surgical pleurodesis to be
successful, there needs to be less chyle flow during the procedure. In order to
achieve this, parenteral nutrition with a fat-free solution must be started for patients
prior to, during, and following pleurodesis. It is recommended to remove the
thoracostomy tube only when the daily drainage volume drops to 200 milliliters or
less. (Taveira-DaSilva & Moss, 2014)

The first medication approved by the US FDA for LAM was sirolimus, also
known as Rapamune, in May 2015. It has been shown to improve lung function in
LAM patients. Moreover, sirolimus shrinks lymphangioleiomyomas, chylous
effusions, and angiomyolipomas. Simvastatin and sirolimus combined therapy
prevented tumor recurrence even after both medications were stopped. It has also
been demonstrated that simvastatin lessens the expansion of the alveolar space in a
mouse model of LAM. Further, combined with sirolimus, simvastatin blocked matrix
metalloproteinase up-regulation and prevented alveolar destruction.
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Since LAM primarily affects women who are not yet menopausal, estrogens
have been linked to the disease's pathogenesis from the beginning. Progesterone,
gonadotropin-releasing hormone (GnRH) analogs, and oophorectomy have all been
used to treat LAM. (Taveira-DaSilva & Moss, 2014) Changes such as tachypnea,
dyspnea, and the use of accessory muscles may indicate the progression of
respiratory involvement and compromise requiring prompt intervention. A
comfortable position maximizes lung expansion, decreases the work of breathing,
and reduces the risk of aspiration. Exercise, in moderation, promotes general
well-being. Overall nursing responsibilities for patients with LAM include providing
emotional support and ensuring the patient's safety.

Untreated lymphangioleiomyomatosis (LAM) can indeed lead to serious

complications that may ultimately result in death. While the rate of disease
progression varies among individuals, and some may experience slower progression
than others, LAM is a progressive disease that can lead to significant respiratory
impairment and complications such as pneumothorax, pleural effusion, and
respiratory failure, which can be life-threatening in severe cases. These
complications include collapsed lung (pneumothorax), characterized by cyst rupture
and air leakage into the chest cavity, often necessitating surgery; pleural effusion,
where fluid accumulates between the lungs and pleura, potentially leading to
chylothorax with lymphatic fluid leakage in about one-third of affected women; and
bleeding tumors (angiomyolipomas) in the kidneys, presenting symptoms such as
back pain and hematuria (Cleveland Clinic, 2023).

While there is currently no cure for lymphangioleiomyomatosis (LAM), timely

diagnosis and appropriate management, including lifestyle changes and
medications, can significantly improve the prognosis and quality of life. Adopting
healthy lifestyle changes such as choosing nutritious foods, engaging in physical
activity, and maintaining a healthy weight can complement medical treatment
(National Heart, Lung, and Blood Institute, 2023). Medications such as sirolimus may
be prescribed to stabilize lung function and improve quality of life for individuals with
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LAM, particularly those with abnormal lung function, large angiomyolipomas,

repeated lung collapse, or symptoms from pleural effusion. Adhering to a prescribed
treatment plan is essential for achieving optimal outcomes, underscoring the
importance of proactive management strategies in addressing this condition
(Cleveland Clinic, 2023).
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References

American Lung Association. (2022). Learn About Lymphangioleiomyomatosis (LAM).

https://www.lung.org/lung-health-diseases/lung-disease-lookup/lymphangioleiomyom

atosis-lam/learn-about-lymphangioleiomyomatosis-lam#:~:text=What%20Causes%2

0LAM,not%20linked%20to%20tuberous%20sclerosis.

American Lung Association. (2022). Diagnosing and Treating lymphangioleiomyomatosis

(LAM).

https://www.lung.org/lung-health-diseases/lung-disease-lookup/lymphangioleiomyom

atosis-lam/symptoms-diagnosis

Ataya, A., Brantly, M., & Riley, L. (2023). Lymphangioleiomyomatosis (LAM). American

Thoracic Society.

https://www.thoracic.org/patients/patient-resources/resources/lymphangioleiomyomat

osis-lam.pdf

Brigham and Women’s Hospital. (2024). Lymphangioleiomyomatosis (LAM) Overview and

Facts.

https://www.brighamandwomens.org/medicine/pulmonary-and-critical-care-medicine/

center-for-lymphangioleiomyomatosis/lam-overview-and-facts-for-patients

Brigham and Women’s HospitaL. (2024). Lymphangioleiomyomatosis (LAM) signs and

symptoms - Brigham and Women’s Hospital.

https://www.brighamandwomens.org/medicine/pulmonary-and-critical-care-medicine/

center-for-lymphangioleiomyomatosis/lam-signs-and-symptoms

Ellis, D. (2023). What is Lymphangioleiomyomatosis (LAM)?.

https://www.news-medical.net/health/What-is-LymLphangioleiomyomatosis-(LAM).as

px
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Lee, J. (2023). Lymphangioleiomyomatosis - Pulmonary Disorders.

https://www.msdmanuals.com/professional/pulmonary-disorders/interstitial-lung-disea

ses/lymphangioleiomyomatosis

National Heart Lung and Blood Institute. (2023). LAM Causes and Risk Factors.

https://www.nhlbi.nih.gov/health/lam/causes#:~:text=Researchers%20believe%20the

%20hormone%20estrogen,LAM%20sometimes%20stops%20getting%20worse.

Professional, C. C. M. (2023). Lymphangioleiomyomatosis (LAM). Cleveland Clinic.

https://my.clevelandclinic.org/health/diseases/16022-lymphangioleiomyomatosis-lam

Shah J M, Patel J T, Shah H, et al. (2023) The Epidemiology and Clinical Features of

Lymphangioleiomyomatosis (LAM): A Descriptive Study of 33 Case Reports. Cureus

15(8): e43513. doi:10.7759/cureus.43513

Taveira-DaSilva, A. M., & Moss, J. (2014). Management of lymphangioleiomyomatosis.

F1000 Prime Reports, 6. https://doi.org/10.12703/p6-116

GROUP MEMBERS & ASSIGNED TASK

Jamero, Heraleen - Disease Process, Narrative, and Compile

Jover, Eula Marie - Management, Narrative, and Compile

Kobayashi, Princess - Disease Process, Narrative and Edit

Ladao, Sherry Lois - Etiology, Prognosis, and Narrative

Laput, Daniela John Mary - Signs and Symptoms, Diagnostic tools, and Narrative