What is generalized lymphatic anomaly?

Generalized lymphatic anomaly (GLA) is a rare disorder marked by malformations of lymphatic vessels that can occur in various parts of the body, including the lungs, spleen, bones and soft tissues. Lymphatic vessels are part of the lymphatic system and transport a clear fluid called lymph throughout the body. Lymph helps the body clear waste and fight infection.

In GLA, the lymphatic vessels grow abnormally large or otherwise become progressively malformed. On occasion, lymphatic fluid leaks into different body compartments, such as the chest or abdomen.

What are the symptoms of GLA?

Because GLA can range from mild to severe, the symptoms vary significantly and can be different depending on what areas of the body are infected:

• If bones are affected, there may be pain.
• When the digestive system is involved, there might be abdominal swelling (ascites) or pain, or leaking of fluid into the intestine, producing malnutrition and chronic diarrhea.
• The spleen may be affected, though this is often without symptoms.
• Lung involvement and leaking of fluid into the chest can lead to breathing difficulty and chest pain.
• Other symptoms may include bleeding or bruising, swelling, and skin lesions.

What causes GLA?

GLA is caused by a genetic mutation that does not appear to be inherited but rather arises spontaneously. While this genetic mutation is present at birth, patients may not develop symptoms of GLA until they are older.

How is GLA diagnosed?

A patient is seen at Children's Hospital of Philadelphia’s (CHOP) Comprehensive Vascular Anomalies Program (CVAP), which includes the multiple specialists needed to diagnose this rare condition. Imaging, such as an MRI, leads to an initial assessment of the location and severity of the GLA. CHOP’s Center for Applied Genomics, which performs advanced work in gene sequencing, profiles the tissue from the malformation. Identifying a gene mutation gives the CVAP team the information needed to develop a customized treatment plan.

What are the treatment options?

Medications can improve symptoms and relieve GLA’s effects on organs. Targeted medication therapy is chosen after identifying the mutation that may be driving the disease.

Procedural interventions or surgery may also be used when appropriate. These can involve team members from Interventional Radiology, Lymphatics Service and Surgery. Some cases may also benefit from the involvement of Ear/Nose/Throat, Dermatology, and Orthopedic specialists, as well as the many other specialists available at CHOP.

The CHOP difference for GLA

Children seen by the CVAP team at CHOP benefit from a multidisciplinary team with extensive experience and deep expertise in the assessment and management of GLA. World-class specialists offer comprehensive care tailored to each child’s condition. The CVAP team at CHOP supports patients and their families every step of the way in their journey in managing a diagnosis of GLA.