Kaposiform lymphangiomatosis

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Blood Diseases

Summary Summary

Kaposiform lymphangiomatosis (KLA) is a rare type of tumor and vascular malformation that results from the abnormal development of the lymphatic system.^[1] The lymphatic system is part of the immune system made up of vessels that help to protect the body from infection and foreign substances. KLA involves multiple parts of the body, especially the lungs and chest. Symptoms of KLA usually start during childhood, and include shortness of breath (dyspnea) and cough due to the accumulation of fluid around the lungs (pleural effusion) and heart (pericardial effusion). Other common symptoms include chest and body pain, abnormal bleeding and bruising, and soft masses under the skin. Blood collections may form under the skull (epidural hematoma).^[1] The cause for KLA is unknown and it is not thought to be inherited in families. KLA is diagnosed based on the symptoms, laboratory testing, and a biopsy of tumor tissue.^[2] There is no specific treatment for KLA. Treatment is based on the symptoms and treatment options may include surgical procedures to drain excess fluid and reduce the size of masses, chemotherapy medications and steroids. KLA tends to be a progressive condition that gets worse with time. The most serious complications include the build-up of fluid around the lungs and heart, and the risk for abnormal bleeding.^[3]

Last updated: 5/1/2019

Symptoms Symptoms

The symptoms of kaposiform lymphangiomatosis (KLA) may be different from person to person. Some people may be more severely affected than others, and some people may develop symptoms at later ages than others. Symptoms usually begin in childhood and typically include:^[1]^[3]

• Difficulty breathing (dyspnea)
• Cough
• Abnormal bleeding due to low platelet count (thrombocytopenia)
• Bruising
• Mass under the skin

Other symptoms may include bony changes due to bone tissue destruction and fever. A few people with KLA did not have symptoms until adulthood.^[4]

Last updated: 5/1/2019

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Cause Cause

The cause of kaposiform lymphangiomatosis (KLA) is unknown. KLA is the result of an abnormality in formation of the lymph system during fetal development.^[1]

Last updated: 5/1/2019

Inheritance Inheritance

Kaposiform lymphangiomatosis is not thought to be inherited in families.

Last updated: 5/1/2019

Diagnosis Diagnosis

The diagnosis of kaposiform lymphangiomatosis (KLA) is based on the symptoms and the distinct features of the tumors formed in KLA.^[5] A small sample of tumor tissue examined under a microscope (biopsy) can help confirm the diagnosis. Tumor genetic testing may also show specific genetic changes that can help with the diagnosis.^[2]

Last updated: 5/1/2019

Treatment Treatment

There is no specific treatment for kaposiform lymphangiomatosis (KLA). Treatment is based on managing the symptoms and controlling the growth of abnormal lymph vessels. Treatment options may include surgical procedures to drain excess fluid, medications to help control bleeding, and chemotherapy to help stabilize the condition.^[6]

Last updated: 5/1/2019

Prognosis Prognosis

The duration and outcome of a rare disease like kaposiform lymphangiomatosis (KLA) is influenced by many factors. These include the severity of the symptoms, the availability of treatment, other medical conditions and lifestyle factors.

People with KLA may begin to have symptoms in childhood. The first symptoms may include a dry cough and body pain. KLA is a progressive condition that gets worse over time. Some of the symptoms such as the build-up of fluid around the lungs and heart and abnormal bleeding may be life threatening.

Last updated: 5/1/2019

Research Research

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.

Clinical Research Resources

The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled ClinicalTrials.gov which may be of interest to you.

Organizations 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

Lymphangiomatosis & Gorham's Disease Alliance
19919 Villa Lante Place
Boca Raton, FL 33434
Toll-free: 1-844-588-5771
Telephone: +1-561-441-9766
E-mail: info@lgdalliance.org
Website: https://www.lgdalliance.org

Do you know of an organization? We want to hear from you.

Learn More 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.

In-Depth Information

Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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References References

Croteau SE, Kozakewich HPW, Perez-Atayde AR, & cols. Kaposiform Lymphangiomatosis: A Distinct Aggressive Lymphatic Anomaly. The Journal of pediatrics. 2014; 164(2):383-388. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3946828/.
Barclay SF Inman KW, Luks VL, McIntyre JB, Al-Ibraheemi A, Church AJ, Perez-Atayde AR, et al. A somatic activating NRAS variant associated with kaposiform lymphangiomatosis.. Genet Med. Dec 13, 2018; epub:https://www.ncbi.nlm.nih.gov/pubmed/30542204.
Ozeki M., Fujino A., Matsuoka K., Nosaka S., Kuroda T & Fukao T. Clinical Features and Prognosis of Generalized Lymphatic Anomaly, Kaposiform Lymphangiomatosis, and Gorham–Stout Disease. Pediatr Blood Cancer. 2016; 63:832–838. https://www.ncbi.nlm.nih.gov/pubmed/26806875.
Safi F, Gupta A, Adams D, Anandan V, McCormack FX & Assaly R. Kaposiform lymphangiomatosis, a newly characterized vascular anomaly presenting with hemoptysis in an adult woman. Ann Am Thorac Soc. January, 2014; 11(1):92-5. https://www.ncbi.nlm.nih.gov/pubmed/24460439.
Goyal P, Alomari AI & Kozakewich HP. Imaging features of kaposiform lymphangiomatosis. Pediatr Radiol. August, 2016; 46(9):1282-90. https://www.ncbi.nlm.nih.gov/pubmed/27053281.
Adams DM, Ricci KW. Vascular Anomalies: Diagnosis of Complicated Anomalies and New Medical Treatment Options. Hematol Oncol Clin North Am. Jun 2019; 33(3):455-470. https://www.ncbi.nlm.nih.gov/pubmed/31030813.