Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome (MLTS) is a rare, inherited disorder characterized by the presence of multiple lymphatic malformations, thrombocytopenia (low platelet count), and endothelial cell abnormalities. It is caused by a mutation in the gene encoding the protein VEGFR3. Symptoms of MLTS include recurrent infections, bleeding, and organ dysfunction. Treatment typically involves a combination of medications, surgery, and other therapies.

The symptoms of Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome (MLTS) vary from person to person, but may include:

-Fever

-Enlarged lymph nodes

-Skin rash

-Joint pain

-Abdominal pain

-Diarrhea

-Weight loss

-Anemia

-Thrombocytopenia (low platelet count)

-Liver and/or spleen enlargement

-Lymphangioendotheliomatosis (abnormal growth of lymphatic vessels)

-Pulmonary infiltrates (abnormal accumulation of fluid in the lungs)

-Neurological symptoms (such as seizures, headaches, and confusion)

Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome (MLTS) is a rare disorder that is caused by a mutation in the gene called PIK3CD. This gene is responsible for the production of a protein called PI3K, which is involved in the regulation of cell growth and survival. The mutation in this gene leads to an overproduction of PI3K, which in turn causes the abnormal growth of lymphatic vessels and thrombocytopenia (low platelet count). The exact cause of the mutation is unknown, but it is believed to be inherited in an autosomal recessive pattern.

At this time, there is no known cure for Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome. Treatment is focused on managing symptoms and preventing complications. Treatment may include:

• Blood transfusions to replace low platelet levels

• Medications to reduce inflammation and pain

• Surgery to remove tumors or blockages

• Radiation therapy to shrink tumors

• Chemotherapy to slow the growth of tumors

• Immunotherapy to boost the immune system

• Nutritional support to maintain health

• Physical therapy to maintain mobility

• Psychological support to cope with the diagnosis

1. Genetic predisposition: Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome is caused by a mutation in the gene encoding the protein GATA2.

2. Age: The syndrome is most commonly seen in children and young adults.

3. Gender: The syndrome is more common in males than females.

4. Ethnicity: The syndrome is more common in individuals of Asian descent.

5. Exposure to certain environmental toxins: Exposure to certain environmental toxins, such as benzene, may increase the risk of developing the syndrome.

At this time, there is no known cure for Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome. Treatment is focused on managing symptoms and complications. Medications may be used to reduce inflammation, control pain, and reduce the risk of infection.