What is Lymphangiomatosis

Lymphangiomatosis is a rare, complex disorder characterized by the widespread growth of abnormal lymphatic vessels that can infiltrate multiple organs and tissues throughout the body. Because it can affect the bones, lungs, spleen, and liver, Lymphangiomatosis requires a multidisciplinary medical approach to manage its systemic nature and associated complications.

What is the underlying cause of Lymphangiomatosis?

Lymphangiomatosis occurs when the lymphatic system develops abnormally, leading to the proliferation of lymphatic channels that lack proper drainage. Unlike localized lymphangiomas, Lymphangiomatosis is diffuse and multi-systemic. While the exact genetic triggers are still being researched, current evidence suggests that somatic mutations—changes that occur after conception—in genes involved in lymphatic development may play a significant role in the uncontrolled growth of these vessels.

Which body systems are affected by Lymphangiomatosis?

The clinical presentation of Lymphangiomatosis varies significantly depending on which organ systems are involved. Common areas of involvement include:

• Skeletal System: Often presents as osteolytic lesions (holes in the bone) that can lead to pain or fractures.


• Respiratory System: Lymphatic infiltration in the chest (thoracic cavity) can cause chylous pleural effusions, where fluid accumulates around the lungs.


• Abdominal Organs: The spleen, liver, and mesentery may develop cysts, which can cause discomfort or functional impairment.

How rare is Lymphangiomatosis?

Lymphangiomatosis is considered an extremely rare disease, with an unknown exact prevalence due to historical underdiagnosis and diagnostic complexity. It typically manifests in childhood or adolescence, though it can be diagnosed at any age. There is no known geographic or gender predisposition, and it is distinct from generalized lymphatic anomaly (GLA) due to its more aggressive, infiltrative behavior.

Next steps

• Consult with a specialist in pediatric or adult vascular anomalies or interventional radiology.


• Connect with others navigating this condition through the Lymphangiomatosis community at DiseaseMaps.org.


• Request a referral to a center of excellence that specializes in complex lymphatic malformations.


• Monitor for new symptoms, particularly shortness of breath or localized bone pain, and report them to your care team immediately.

Medical disclaimer: This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment; always seek the advice of your physician regarding a medical condition.

References

• NIH Genetic and Rare Diseases Information Center (GARD)


• Orphanet: Portal for rare diseases and orphan drugs


• OMIM (Online Mendelian Inheritance in Man)


• International Society for the Study of Vascular Anomalies (ISSVA) classification guidelines