Please read this first. This guide is a companion to your medical team, not a replacement, and it is
not medical advice.
Everything here is tied to published research. If something you expected is not here, it almost always means we have not mapped a source for it yet,
not that it is unknown to medicine.
lymphangioleiomyomatosis is an early, growing map, so it will look incomplete on purpose: we would rather show less and have every line be something you can check than fill the page with claims we cannot stand behind.
For anything about your own situation, your clinicians hold the full picture.
How this guide is built and why.
What's lymphangioleiomyomatosis?
Lymphangioleiomyomatosis (LAM) is a rare, slowly progressive cystic lung disease that almost exclusively affects women, usually of childbearing age. Abnormal smooth-muscle-like LAM cells proliferate and destroy lung tissue, forming cysts. It occurs in a sporadic form and in a form associated with tuberous sclerosis complex; in both, loss of TSC1 or TSC2 function over-activates the mTOR growth pathway. This entry confirms TSC2 as the principal driver. Sirolimus, an mTOR inhibitor, is the cornerstone treatment.
| Also indexed as | OMIM:606690, MONDO:0011705 |
|---|
| Features mapped | 9 |
|---|
| Treatments mapped | 4 |
|---|
| Published sources | 12 |
|---|
| Last reviewed | 2026-08-04 |
|---|
Signs and symptoms
Abnormality of the lymphatic system
Lymphangioleiomyomatosis can affect the lymphatic system in the abdomen, including the development of retroperitoneal lymphangioleiomyomas (lymphatic masses at the back of the abdomen) and a buildup of lymphatic fluid.
Evidence ratingweak
Study designontology_import
Confidence (0-1)0.7
Replicationunreplicated
Supporting sourcesPMID:40420164, ORPHA:538
Notesplain_language confirmed from PMID:40420164 via curation 2026-06-25 [claude-draft]. | regrounded primary ORPHA:538 -> PMID:16707400 on 2026-06-26 [Carrie Schluter, BCPA]
Last reviewed2026-06-26
Hemoptysis
Some patients cough up blood (hemoptysis) as a result of the lung and lymphatic changes.
Evidence ratingweak
Study designontology_import
Confidence (0-1)0.7
Replicationunreplicated
Supporting sourcesORPHA:538
Notesplain_language confirmed from PMID:39858105 via curation 2026-06-14. | regrounded primary ORPHA:538 -> PMID:39858105 on 2026-06-26 [Carrie Schluter, BCPA]
Last reviewed2026-06-26
Pneumothorax
A collapsed lung (pneumothorax) is common and is often the first clue; it tends to recur.
Evidence ratingweak
Study designontology_import
Confidence (0-1)0.7
Replicationunreplicated
Supporting sourcesPMID:40214022, ORPHA:538
Notesplain_language confirmed from PMID:40214022 via curation 2026-06-14. | regrounded primary ORPHA:538 -> PMID:16707400 on 2026-06-26 [Carrie Schluter, BCPA]
Last reviewed2026-06-26
Cough
A chronic, often dry cough is common as the airways and lung tissue are affected.
Evidence ratingweak
Study designontology_import
Confidence (0-1)0.7
Replicationunreplicated
Supporting sourcesORPHA:538
Notesplain_language confirmed from PMID:39858105 via curation 2026-06-14. | regrounded primary ORPHA:538 -> PMID:39858105 on 2026-06-26 [Carrie Schluter, BCPA]
Last reviewed2026-06-26
Dyspnea
Breathlessness on exertion is the most common symptom, reflecting progressive cystic destruction of the lungs.
Evidence ratingweak
Study designontology_import
Confidence (0-1)0.7
Replicationunreplicated
Supporting sourcesPMID:40214022, ORPHA:538
Notesplain_language confirmed from PMID:40214022 via curation 2026-06-14. | regrounded primary ORPHA:538 -> PMID:27833825 on 2026-06-26 [Carrie Schluter, BCPA]
Last reviewed2026-06-26
Fatigue
Fatigue is a common early symptom of lymphangioleiomyomatosis. Because tiredness and breathlessness are so general, the disease is often mistaken for more common lung conditions before the correct diagnosis is made.
Evidence ratingweak
Study designontology_import
Confidence (0-1)0.7
Replicationunreplicated
Supporting sourcesPMID:39659355
Notesplain_language confirmed from PMID:39659355 via curation 2026-06-18 [carrie (curation)].
Last reviewed2026-06-18
Renal angiomyolipoma
Benign fatty-muscular kidney tumors (renal angiomyolipomas) are a frequent extrapulmonary feature and can bleed.
Evidence ratingweak
Study designontology_import
Confidence (0-1)0.7
Replicationunreplicated
Supporting sourcesORPHA:538
Notesplain_language confirmed from PMID:40214022 via curation 2026-06-14. | regrounded primary ORPHA:538 -> PMID:40214022 on 2026-06-26 [Carrie Schluter, BCPA]
Last reviewed2026-06-26
Chylothorax
Chylothorax, a buildup of lymphatic fluid around the lung, is one of the complications that can occur in LAM.
Evidence ratingweak
Study designontology_import
Confidence (0-1)0.7
Replicationunreplicated
Supporting sourcesPMID:39659355, ORPHA:538
Notesplain_language confirmed from PMID:39659355 via curation 2026-06-18 [carrie (curation)]. plain_language confirmed from PMID:39936727 via curation 2026-06-25 [claude-draft]. | regrounded primary ORPHA:538 -> PMID:39936727 on 2026-06-26 [Carrie Schluter, BCPA]
Last reviewed2026-06-26
Cystic lung disease
Lymphangioleiomyomatosis (LAM) is a rare cystic lung disease, in which fluid-filled spaces called cysts form throughout the lungs.
Evidence ratingweak
Study designcase_report
Confidence (0-1)0.7
Replicationunreplicated
Supporting sourcesPMID:27628078
Notesplain_language confirmed from PMID:39659355 via curation 2026-06-18 [carrie (curation)]. plain_language confirmed from PMID:27628078 via curation 2026-06-25 [claude-draft].
Last reviewed2026-06-25
How it is diagnosed
Lymphangioleiomyomatosis
Diagnosed using: serum VEGF-D.
The source text this rests on
“Serum VEGF-D concentrations are increased in most patients with…”
An excerpt quoted verbatim from the source named above, shown as recorded. The full sentence is in the linked source.
Evidence ratingweak
Confidence (0-1)0.7
Replicationunreplicated
Notesconfirmed from PMID:24159565 via curation 2026-06-25
Last reviewed2026-06-25
Lymphangioleiomyomatosis
Diagnosed using: high-resolution chest CT.
The source text this rests on
“High-resolution CT imaging typically shows homogeneous, thin-walled cysts throughout the…”
An excerpt quoted verbatim from the source named above, shown as recorded. The full sentence is in the linked source.
Evidence ratingweak
Confidence (0-1)0.7
Replicationunreplicated
Notesconfirmed from PMID:40761985 via curation 2026-06-25
Last reviewed2026-06-25
Lymphangioleiomyomatosis
Diagnosed using: transbronchial lung biopsy.
The source text this rests on
“…considering transbronchial lung biopsy as a diagnostic…”
An excerpt quoted verbatim from the source named above, shown as recorded. The full sentence is in the linked source.
Evidence ratingweak
Confidence (0-1)0.7
Replicationunreplicated
Notesconfirmed from PMID:29140122 via curation 2026-06-25
Last reviewed2026-06-25
Treatment and management
What the research describes, not a recommendation. Treatment decisions belong with your clinician.
This covers treatments that appear in the published research mapped here. Investigational and experimental therapies are not included, so their absence is a boundary of this map, not a sign they do not exist.
sirolimus
Sirolimus, an mTOR inhibitor, is the cornerstone drug therapy; by blocking the over-active mTOR pathway it stabilizes lung function and reduces symptoms.
Used to help with: Lymphangioleiomyomatosis.
The source text this rests on
“Sirolimus, an mTOR inhibitor, is the first-line…”
An excerpt quoted verbatim from the source named above, shown as recorded. The full sentence is in the linked source.
Evidence ratingweak
Confidence (0-1)0.7
Replicationunreplicated
Supporting sourcesPMID:39936727
Notesconfirmed from PMID:40214022 via curation 2026-06-14 | superseded (replace) by PMID:39936727 on 2026-06-19 [carrie]
Last reviewed2026-06-19
lung transplantation
In advanced disease, lung transplantation is an option to restore breathing capacity.
Used to help with: Lymphangioleiomyomatosis.
The source text this rests on
“…lung transplantation is a viable…”
An excerpt quoted verbatim from the source named above, shown as recorded. The full sentence is in the linked source.
Evidence ratingweak
Confidence (0-1)0.7
Replicationunreplicated
Supporting sourcesPMID:39936727
Notesconfirmed from PMID:40214022 via curation 2026-06-14 | superseded (replace) by PMID:39936727 on 2026-06-19 [carrie]
Last reviewed2026-06-19
everolimus
Everolimus is another mTOR inhibitor used to treat lymphangioleiomyomatosis; it works in the same way as sirolimus to block the over-active mTOR pathway, and both are approved drug therapies for the condition.
Used to help with: Lymphangioleiomyomatosis.
The source text this rests on
“Despite the availability of FDA-approved treatments, mTOR inhibitors like sirolimus or…”
An excerpt quoted verbatim from the source named above, shown as recorded. The full sentence is in the linked source.
Evidence ratingweak
Confidence (0-1)0.7
Replicationunreplicated
Notesconfirmed from PMID:41731545 via curation 2026-06-25
Last reviewed2026-06-25
pleurodesis
Pleurodesis is a procedure that seals the lung against the chest wall to stop air leaks; in lymphangioleiomyomatosis it can be offered after a first collapsed lung (pneumothorax) rather than waiting for it to happen again, because pneumothorax tends to recur.
Used to help with: Lymphangioleiomyomatosis.
The source text this rests on
“…offering pleurodesis after an initial pneumothorax rather than postponing the procedure until the first…”
An excerpt quoted verbatim from the source named above, shown as recorded. The full sentence is in the linked source.
Evidence ratingweak
Confidence (0-1)0.7
Replicationunreplicated
Notesconfirmed from PMID:29140122 via curation 2026-06-25
Last reviewed2026-06-25
What changes how it shows up
Carrying the genetic change is not the whole story. The factors below are described in the research mapped here as changing whether, or how strongly, the condition appears. They modulate how the genotype is expressed; they do not, on their own, cause or cure it.
sporadic vs tuberous-sclerosis-associated form
LAM occurs in two forms: a sporadic form, and a form that occurs together with tuberous sclerosis complex (TSC-LAM).
Described as modulating: Lymphangioleiomyomatosis.
The source text this rests on
“LAM primarily affects women of childbearing age and can present in two forms: sporadic (S-LAM) and associated with tuberous sclerosis complex…”
An excerpt quoted verbatim from the source named above, shown as recorded. The full sentence is in the linked source.
Evidence ratingweak
Confidence (0-1)0.7
Replicationunreplicated
Notesconfirmed from PMID:40214022 via curation 2026-06-25
Last reviewed2026-06-25
predominance in women of reproductive age
LAM mainly affects women of reproductive age.
Described as modulating: Lymphangioleiomyomatosis.
The source text this rests on
“…a low-grade neoplasm with metastatic potential that mainly affects women of reproductive…”
An excerpt quoted verbatim from the source named above, shown as recorded. The full sentence is in the linked source.
Evidence ratingweak
Confidence (0-1)0.7
Replicationunreplicated
Notesconfirmed from PMID:39936727 via curation 2026-06-25
Last reviewed2026-06-25
How to read the evidence labels
Widely acceptedSpecialists broadly agree on this.
Strong evidenceBacked by solid, repeated research.
Moderate evidenceReasonable evidence, still being confirmed.
Limited evidenceSome evidence, but not yet convincing.
Early evidenceAn early finding that needs more study.
Experts disagreeResearchers actively disagree about this.
No longer supportedLater, stronger evidence or guidance overturned this.
Where this comes from
This guide is built from 12 published source(s). Every claim above links back to one of them. Click any source ID to read the original on PubMed.
OMIM:606690 · Orphanet/HPO annotations for LYMPHANGIOLEIOMYOMATOSIS
ORPHA:538 · Orphanet/HPO annotations for Lymphangioleiomyomatosis
PMID:24159565 · Serum VEGF-D a concentration as a biomarker of lymphangioleiomyomatosis severity and treatment response: a prospective a
PMID:27833825 · EPIDEMIOLOGY, PATHOGENESIS and DIAGNOSIS of LYMPHANGIOLEIOMYOMATOSIS.
PMID:29140122 · Lymphangioleiomyomatosis Diagnosis and Management: High-Resolution Chest Computed Tomography, Transbronchial Lung Biopsy
PMID:39659355 · Lymphangioleiomyomatosis cystic lung disease (literature)
PMID:39858105 · Lymphangioleiomyomatosis and Pregnancy-Do We Have All the Answers for a Woman Who Desires to Conceive?-Literature Review.
PMID:39936727 · Brazilian Thoracic Association recommendations for the management of lymphangioleiomyomatosis.
PMID:40214022 · [Lymphangioleiomyomatosis: Update on Pathophysiology, Diagnosis, and Treatment].
PMID:40761985 · Sporadic Lymphangioleiomyomatosis in a 35-Year-Old Female Patient: A Rare Cause of Spontaneous Pneumothorax.
PMID:41731545 · Educational attainment of individuals with lymphangioleiomyomatosis is a determinant of timely diagnosis and treatment u
Take it further
Printed, source-linked documents built from this condition's graph — ready to bring to an appointment or attach to a coverage request. Every claim carries its published source, the same as this guide.