Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a...
Comprehensive, easy-to-understand information about this condition
How we create this content →Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 31, 2026
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 31, 2026
The documentation for lung lymphangioleiomyomatosis is limited primarily due to its extreme rarity, with a prevalence of 1-9 in 1,000,000. This makes systematic clinical studies challenging. Additionally, the lack of identified genetic markers and established inheritance patterns contributes to the difficulties in understanding the condition fully. Ongoing research is crucial for better characterization and management of this disease.
To navigate your care effectively, consider seeking a pulmonologist with expertise in rare lung diseases, particularly those familiar with lymphangioleiomyomatosis. Engaging with a genetic counselor may also be beneficial, even in the absence of identified genetic factors, to discuss family implications and testing options. For additional support, the Genetic and Rare Diseases Information Center (GARD) provides resources at rarediseases.info.nih.gov. Participating in clinical trials may also offer access to cutting-edge treatments and contribute to the broader understanding of the disease.
There are currently five active clinical trials investigating treatments for lung lymphangioleiomyomatosis, including the use of sirolimus, which has received orphan drug designation. For more information on these trials, you can visit ClinicalTrials.gov and search for 'lung lymphangioleiomyomatosis'. This research offers hope for improved understanding and potential new treatment options for patients.
Actionable guidance for navigating care for lung lymphangioleiomyomatosis
To navigate your care effectively, consider seeking a pulmonologist with expertise in rare lung diseases, particularly those familiar with lymphangioleiomyomatosis. Engaging with a genetic counselor may also be beneficial, even in the absence of identified genetic factors, to discuss family implications and testing options. For additional support, the Genetic and Rare Diseases Information Center (GARD) provides resources at rarediseases.info.nih.gov. Participating in clinical trials may also offer access to cutting-edge treatments and contribute to the broader understanding of the disease.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Clinical profile data for this condition is not yet available. Phenotype information may still be loading below.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 31, 2026
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 1 company has orphan drug designations for this disease
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.