Lymphangioleiomyomatosis (lim-FAN-je-o-LI-o-MI-o-ma-TO-sis), or LAM, is a rare cystic lung disease that mostly affects women in their mid-forties. In LAM, an unusual type of cell begins to grow out of control throughout the body, including in the lungs, lymph nodes and vessels, and kidneys. Over time, these LAM cells form cysts and clusters of cells, which grow throughout the lungs and slowly block the airways. They also destroy the normal lung tissue and replace it with cysts. As a result, air cannot move freely in and out of the lungs, and the lungs cannot supply enough oxygen to the body's other organs. Some people also develop growths called angiomyolipomas (AMLs) in the kidneys. There are two forms of LAM - a sporadic form, which occurs for unknown reasons, and a form that occurs in people with a rare, inherited disease called tuberous sclerosis complex. LAM may be difficult to diagnosis in the early stages because symptoms may be similar to other lung diseases. A high resolution CT scan is the most accurate imaging test for diagnosing LAM. Additional testing may include an abdominal CT scan or ultrasound, a VEGF-D blood test (measuring the VEGF-D hormone, which would typically be high), and a lung biopsy.
Resource(s) for Medical Professionals and Scientists on This Disease:
RareSourceoffers rare disease gene variant annotations and links to rare disease gene literature.
About Lymphangioleiomyomatosis
Many rare diseases have limited information. Currently GARD aims to provide the following information for this disease:
Population Estimate:Fewer than 5,000 people in the U.S. have thisdisease.
Symptoms:May start to appear as an Adult.
Cause:This disease is caused by a change in the genetic material (DNA).
Organizations:Patient organizations are available to help find a specialist, or advocacy and support for this specific disease.
Categories:Respiratory DiseaseGenetic Disease
When Do Symptoms of Lymphangioleiomyomatosis Begin?
Symptoms of this disease may start to appear as an Adult.
The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms from some diseases may begin at any age. Knowing when symptoms began to appear can help medical providers find the correct diagnosis.
Prenatal
Before Birth
Newborn
Birth-4 weeks
Infant
1-23 months
Child
2-11 years
Adolescent
12-18 years
Adult Selected
19-65 years
Older Adult
65+ years
Symptoms may start to appear as an Adult.
Symptoms
The types of symptoms experienced, and their intensity, may vary among people with this disease. Your experience may be different from others, and you should consult your primary care provider (PCP) for more information.
This list does not include all possible symptoms related to this disease, but they may include:
Cardiovascular System Cardiovascular System
28 Symptoms
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List View
Tile View
List View
Body Systems
Symptoms related to this disease may affect different systems of the body. Use the 'Filter and Sort' function to learn more about which body system(s) are affected by this disease and their associated symptom(s).
Medical Term
Abnormality of the lymphatic system
Frequency
Uncommon
Very frequent
Very frequent
Always
Description
An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively.
An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively.
28 Symptoms
Causes
This section is currently in development.
Advocacy and Support Groups
How Can Patient Organizations Help?
Patient organizations can help patients and families connect. They build public awareness of the disease and are a driving force behind research to improve patients' lives. They may offer online and in-person resources to help people live well with their disease. Many collaborate with medical experts and researchers.
Services of patient organizations differ, but may include:
Ways to connect to others and share personal stories
Easy-to-read information
Up-to-date treatment and research information
Patient registries
Lists of specialists or specialty centers
Financial aid and travel resources
Please note: GARD provides organizations for informational purposes only and not as an endorsement of their services. Please contact an organization directly if you have questions about the information or resources it provides.
Clinical studies are part of clinical research and at the heart of all medical advances, including rare diseases. Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases.
What Are Clinical Studies?
Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
Observational studies involve recording changes over time among a specific group of people in their natural settings.
People participate in clinical trials for a variety of reasons. Participants with a disease may participate to help others, but also to possibly receive the newest treatment and additional care from clinical study staff. Healthy volunteers may also participate to help others and to contribute to moving science forward.
How Do You Find the Right Clinical Study?
To find the right clinical study we recommend you:
Use ClincalTrials.gov button below to search for studies by disease, terms, or country.
Consult doctors, other trusted medical professionals, and patient organizations.
Enroll in databases to allow researchers from participating institutions to find you.
What if There Are No Available Clinical Studies?
ResearchMatch helps connect people interested in research studies with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.
What Are Clinical Studies?
Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
Observational studies involve recording changes over time among a specific group of people in their natural settings.
Learn more about the different types of clinical studies, consent forms, questions you should ask before participating in clinical studies, and the difference between research and medical treatment.Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
Observational studies involve recording changes over time among a specific group of people in their natural settings.
People participate in clinical trials for a variety of reasons. Participants with a disease may participate to help others, but also to possibly receive the newest treatment and additional care from clinical study staff. Healthy volunteers may also participate to help others and to contribute to moving science forward.People participate in clinical trials for a variety of reasons. Participants with a disease may participate to help others, but also to possibly receive the newest treatment and additional care from clinical study staff. Healthy volunteers may also participate to help others and to contribute to moving science forward.
Read More
Read Less
How Do You Find the Right Clinical Study?
To find the right clinical study we recommend you:
Use ClincalTrials.gov button below to search for studies by disease, terms, or country.
Consult doctors, other trusted medical professionals, and patient organizations.
Enroll in databases to allow researchers from participating institutions to find you.
What if There Are No Available Clinical Studies?
ResearchMatch helps connect people interested in research studies with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.
ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
GARDGenetic and Rare Diseases Information Center
Please contact GARD if you need help finding additional information or resources on rare diseases, including clinical studies. Note, GARD cannot enroll individuals in clinical studies.
Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time (Except: Federal Holidays)
Use the contact form to send your questions to a GARD Information Specialist.
Please allow 2 to 10 business days for us to respond.
ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
GARDGenetic and Rare Diseases Information Center
Please contact GARD if you need help finding additional information or resources on rare diseases, including clinical studies. Note, GARD cannot enroll individuals in clinical studies.
Data from Orphanet and Human Phenotype Ontology (HPO) are used to provide information on a disease's symptoms, genes, inheritance, population estimates, and more.