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Disease Profile

Kaposiform lymphangiomatosis

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.

Unknown

Age of onset

#N/A

ICD-10

#N/A

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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Categories

Blood Diseases

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]

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]

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
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

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]

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]

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]

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

    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.

      References

      1. 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/.
      2. 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.
      3. 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.
      4. 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.
      5. 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.
      6. 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.

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