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

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.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormal lymphatic vessel morphology		0100766
Abnormality of the mediastinum		0045026
Pleural effusion	Fluid around lungs	0002202
30%-79% of people have these symptoms
Cough	Coughing	0012735
Dyspnea	Trouble breathing	0002094
Hypofibrinogenemia		0011900
Osteolysis	Breakdown of bone	0002797
Pericardial effusion	Fluid around heart	0001698
5%-29% of people have these symptoms
Abnormal form of the vertebral bodies		0003312
Abnormal humerus morphology		0031095
Abnormal pelvis bone morphology	Abnormal shape of pelvis bone	0040163
Abnormal sacrum morphology		0005107
Abnormal scapula morphology	Abnormality of the shoulder blade	0000782
Abnormal thoracic spine morphology		0100711
Abnormality of femur morphology	Abnormality of the thighbone	0002823
Abnormality of the cervical spine	Abnormal cervical spine	0003319
Abnormality of the ischium		0003174
Abnormality of the neck		0000464
Bruising susceptibility	Bruise easily Easy bruisability Easy bruising [ more ]	0000978
Chest pain		0100749
Ecchymosis		0031364
Epidural hemorrhage		0100310
Epistaxis	Bloody nose Frequent nosebleeds Nose bleed Nose bleeding Nosebleed [ more ]	0000421
Exercise intolerance	Decreased ability to exercise Inability to exercise [ more ]	0003546
Fever		0001945
Fractures of the long bones		0003084
Hepatosplenomegaly	Enlarged liver and spleen	0001433
Lymphangioma		0100764
Metrorrhagia	Abnormal uterus bleeding	0100608
Multiple renal cysts	Multiple kidney cysts	0005562
Pancreatic cysts		0001737
Splenomegaly	Increased spleen size	0001744
Subconjunctival hemorrhage		0011896
Thrombocytopenia	Low platelet count	0001873
1%-4% of people have these symptoms
Abnormality of the skull base		0002693
Anemia	Low number of red blood cells or hemoglobin	0001903
Enlarged kidney	Large kidneys	0000105
Hemoptysis	Coughing up blood	0002105
Papilloma		0012740

Showing of 39 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 1/1/2021

Do you have updated information on this disease? We want to hear from you.

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

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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.