This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Restrictive ventilatory defect||
Stiff lung or chest wall causing decreased lung volume
|30%-79% of people have these symptoms|
Pain in stomach
Stomach pain[ more ]
|Abnormality of female internal genitalia||0000008|
Partial or complete collapse of part or entire lung
Blood in urine
Swollen lymph nodes
|5%-29% of people have these symptoms|
|Abnormal urinary color||
Abnormal urinary colour
Abnormal urine color[ more ]
|Abnormality of skin pigmentation||
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary skin changes
Pigmentation anomaly[ more ]
Accumulation of fluid in the abdomen
Abnormality of cognition
Mental impairment[ more ]
Tiredness[ more ]
Coughing up blood
Too much cerebrospinal fluid in the brain
Swelling caused by excess lymph fluid under skin
Flat, discolored area of skin
|Multiple renal cysts||
Multiple kidney cysts
|Recurrent respiratory infections||
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections[ more ]
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Of note, doxycycline and
The American Thoracic Society and Japanese Respiratory Society have made available their latest clinical practice guidelines for LAM which include the current treatment recommendations.
Learn more orphan products.
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
The two main differential diagnoses are adult pulmonary Langerhans cell histiocytosis and emphysema. Less frequent differential diagnoses include hypersensitivity pneumonitis, light chain-deposition disease, Birt-Hogg-Dubé syndrome and Sjögren syndrome.
Visit the Orphanet disease page for more information.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
The Rare Lung Diseases Consortium: Molecular Pathway-Driven Diagnostics and Therapeutics for Rare Lung Diseases is an integrated group of academic medical centers, patient support organizations, and clinical research resources dedicated to conducting clinical research involving pulmonary alveolar proteinosis, Hermansky-Pudlak Syndrome, and Lymphangioleiomyomatosis. A pilot project program supports research into other rare lung diseases that complement the main research projects.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
NIH Hosts Rare Disease Day Event, Twitter Chat
January 24, 2019
2017 Million Dollar Bike Ride Pilot Grant Program
August 30, 2017
2016 Million Dollar Bike Ride Pilot Grant Program
August 15, 2016
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
Recently, I had an abdominal ultrasound performed and the doctors found what they believe is a small angiomyolipoma. My doctor told me not to worry about it and just to have a follow up in 6 months to make sure it didn't grow in size. While online trying to figure out what an angiomyolipoma was, I came upon LAM, a disease that I previously knew nothing about. What most concerned me was that sporadic LAM is most common in young women (I'm in my 20's) and many of them also have renal angiomyolipoma. While the median age for someone to get an angiomylipoma is mid-50s. I don't believe I have any symptoms of LAM, but still worry about this risk. I guess what I am looking for is some more definitive information? See answer
Please send me any information regarding treatment and/or clinical trials for this rare disease. See answer