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Disease Profile

Lymphangioleiomyomatosis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 1 000 000

331 - 2,979

US Estimated

1-9 / 1 000 000

514 - 4,622

Europe Estimated

Age of onset

Adult

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ICD-10

D48.7

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

LAM; Lymphangio-myomatosis

Categories

Congenital and Genetic Diseases; Lung Diseases

Summary

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.[1]

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.[2] There are several management options for LAM, but the best course of treatment may vary from person to person. Treatment options may include therapy with an mTOR inhibitor (such as sirolimus), and supportive measures such as oxygen therapy or the use of bronchodilators. Some people may need a lung transplant when lung function is considerably impaired.[3]

Symptoms

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
Learn More:
HPO ID
80%-99% of people have these symptoms
Chest pain
0100749
Cough
Coughing
0012735
Dyspnea
Trouble breathing
0002094
Pulmonary infiltrates
Lung infiltrates
0002113
Restrictive ventilatory defect
Stiff lung or chest wall causing decreased lung volume
0002091
30%-79% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

0002027
Abnormal morphology of female internal genitalia
0000008
Atelectasis
Partial or complete collapse of part or entire lung
0100750
Chylothorax
0010310
Emphysema
0002097
Hematuria
Blood in urine
0000790
Lymphadenopathy
Swollen lymph nodes
0002716
Pneumothorax
Collapsed lung
0002107
Pulmonary lymphangiomyomatosis
0012798
Renal angiomyolipoma
0006772
Ungual fibroma
0100804
5%-29% of people have these symptoms
Abnormal urinary color
Abnormal urinary colour
Abnormal urine color

[ more ]

0012086
Abnormality of skin pigmentation
Abnormal pigmentation
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary changes
Pigmentary skin changes
Pigmentation anomaly

[ more ]

0001000
Ascites
Accumulation of fluid in the abdomen
0001541
Chylopericardium
0011852
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment

[ more ]

0100543
Fatigue
Tired
Tiredness

[ more ]

0012378
Fever
0001945
Gastrointestinal hemorrhage
Gastrointestinal bleeding
0002239
Hemoptysis
Coughing up blood
0002105
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Lymphedema
Swelling caused by excess lymph fluid under skin
0001004
Macule
Flat, discolored area of skin
0012733
Multiple renal cysts
Multiple kidney cysts
0005562
Optic atrophy
0000648
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections

[ more ]

0002205
Retinal hamartoma
0009594
Seizure
0001250
Shagreen patch
0009721
Percent of people who have these symptoms is not available through HPO
Somatic mutation
0001428

Diagnosis

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.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Treatment

    While there is currently no cure for LAM, research has led to major progress in the treatment of symptoms. Treatment options may vary from person to person depending on the severity of the disease. People with LAM should speak with their doctor about whether certain options are right for them, as well as the benefits and risks of treatment options.

    Treatment for LAM may involve:[3]

    • Sirolimus (also called rapamycin) this medicine works to stabilize lung function, treat chylothorax (abnormal fluid buildup in the lung), and shrink abnormal kidney and lymph node growths. Sirolimus has been shown to improve quality of life in patients with moderate to severe LAM.
    • Oxygen therapy this may be recommended if the level of oxygen in the blood is low, and may become necessary as lung function worsens.
    • Bronchodilators these medicines relax muscles around the airways and may make it easier to breathe. They may be prescribed for people with LAM who are wheezing or have difficulty breathing.
    • Procedures that remove air or fluid from the chest or abdomen these may help with shortness of breath and relieving discomfort.
    • Procedures or surgeries that remove or shrink kidney tumors, which may cause pain or bleeding.
    • Lung transplant people with LAM who have severe symptoms and/or severe lung damage may be eligible for a lung transplant.

    Of note, doxycycline and hormone-based therapy, which have previously been used in the treatment LAM, are no longer recommended treatments.

    The American Thoracic Society and Japanese Respiratory Society have made available their latest clinical practice guidelines for LAM which include the current treatment recommendations.

    Management Guidelines

    • The LAM Foundation provides links to clinical practice guidelines for the treatment of LAM. These guidelines were developed by the American Thoracic Society and the Japanese Respiratory Society in conjunction with an ad hoc guideline development committee of LAM experts.

      FDA-Approved Treatments

      The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

      Organizations

      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.

      Organizations Supporting this Disease

        Social Networking Websites

        • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

          Organizations Providing General Support

            Learn more

            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.

            Where to Start

            • The American Lung Association has information about Lymphangioleiomyomatosis.
            • Genetics Home Reference (GHR) contains information on Lymphangioleiomyomatosis. This website is maintained by the National Library of Medicine.
            • The National Heart, Lung, and Blood Institute (NHLBI) has information on this topic. NHLBI is part of the National Institutes of Health and supports research, training, and education for the prevention and treatment of heart, lung, and blood diseases.
            • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

              In-Depth Information

              • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
              • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
              • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
              • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
                Orphanet
                Orphanet
              • PubMed is a searchable database of medical literature and lists journal articles that discuss Lymphangioleiomyomatosis. Click on the link to view a sample search on this topic.

                References

                1. LAM. National Heart Lung and Blood Institute (NHLBI). https://www.nhlbi.nih.gov/health/health-topics/topics/lam/. Accessed 6/5/2018.
                2. Diagnosing LAM. The LAM Foundation. https://www.thelamfoundation.org/Healthcare-Providers/Diagnosis-Treatment/Diagnosing-LAM. Accessed 6/5/2018.
                3. LAM Management. The LAM Foundation. https://www.thelamfoundation.org/Healthcare-Providers/Diagnosis-Treatment/LAM-Management. Accessed 6/5/2018.

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