Kaposiform lymphangiomatosis

Kaposiform lymphangiomatosis (KLA) is a rare type of tumor and vascular malformation that results from the abnormal development of the lymphatic system. 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.

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.

Inheritance

Kaposiform lymphangiomatosis is not thought to be inherited in families.

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:

•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. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Abnormal lymphatic vessel morphology
• Abnormality of the mediastinum
• Pleural effusion(Fluid around lungs)

30%-79% of people have these symptoms

• Cough(Coughing)
• Dyspnea(Trouble breathing)
• Hypofibrinogenemia
• Osteolysis(Breakdown of bone)
• Pericardial effusion(Fluid around heart)

5%-29% of people have these symptoms

• Abnormal form of the vertebral bodies
• Abnormal humerus morphology
• Abnormal pelvis bone morphology
• Abnormal shape of pelvis bone
• Abnormal sacrum morphology
• Abnormality of femur morphology(Abnormality of the thighbone)
• Abnormality of the cervical spine(Abnormal cervical spine)
• Abnormality of the ischium
• Abnormality of the neck
• Abnormality of the scapula(Abnormality of the shoulder blade)
• Abnormality of the thoracic spine
• Bruising susceptibility(Bruise easily)
• Chest pain
• Ecchymosis
• Epidural hemorrhage
• Epistaxis(Bloody nose)
• Exercise intolerance(Decreased ability to exercise)
• Fever
• Fractures of the long bones
• Hepatosplenomegaly(Enlarged liver and spleen)
• Lymphangioma
• Metrorrhagia(Abnormal uterus bleeding)
• Multiple renal cysts(Multiple kidney cysts)
• Pancreatic cysts
• Splenomegaly(Increased spleen size)
• Subconjunctival hemorrhage
• Thrombocytopenia(Low platelet count)

Diagnosis

The diagnosis of kaposiform lymphangiomatosis (KLA) is based on the symptoms and the distinct features of the tumors formed in KLA. 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.

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.

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.

NIH genetic and rare disease info

• NIH info on Kaposiform lymphangiomatosis

Kaposiform lymphangiomatosis is a rare disease.

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