Lymphatic Malformations

What is a lymphatic malformation (LM)?

Lymphatic malformation

Macrocystic lymphatic malformation on a newborn.

A lymphatic malformation (LM) is a cluster of abnormal blood vessels filled with clear fluid. LMs can happen anywhere in the body, but are usually located in the neck and face.

What causes an LM?

Dr. Jonathan Perkins and his colleagues discovered that LMs are caused by an unexpected change in your child’s genes (gene mutation). The change causes the tissue to overgrow (hypertrophy). This gene, called PIK3CA, causes cells to be too big and to be hypertrophic.

Will an LM change?

LMs can swell rapidly when a child gets sick. The swelling slowly goes down after the child gets better.

Is an LM harmful?

LMs can cause these problems:

  • Infection: When an LM becomes infected, it is important to get treatment quickly. Learning the warning signs and symptoms of LM infections can help prevent them. Read more about preventing infection and when to call the doctor(PDF).
  • Cellulitis: LMs can cause fluid to leak from the skin. This can lead to cellulitis, a skin infection. If cellulitis keeps coming back, it can cause pain, changes in how the skin and body looks and a more serious infection. If this happens, your child will need strong antibiotics.
  • Bleeding: Bleeding in the LM can cause pain and swelling.

There may be other problems depending on where the LM is located. These include:

  • Breathing and eating problems: LMs in the windpipe (trachea), mouth, tongue or chest can make it hard to breathe or eat.
  • Protein loss: LMs in the stomach and intestines can cause protein loss.
  • Heart and lung problems: LMs in the chest can cause heart and lung problems. They can also cause leakage of lymphatic fluid into the chest cavity (chylothorax).
  • Chylous ascites: LMs in the stomach can cause chylous ascites. This is a leakage of lymphatic fluid into the stomach.
  • Pain: LMs in the bone can cause bony destruction and pain.
  • Swelling: An LM on the face will swell and cause disfigurement.

How will Seattle Children’s diagnose an LM?

Sometimes doctors can diagnose LMs during a routine prenatal ultrasound exam. Our Prenatal Diagnosis and Treatment Program can help you and your family work with your obstetrician (OB) to plan your baby’s care.

After birth, doctors can usually diagnose an LM by examining your child and looking at their medical history. Some children may need an MRI (magnetic resonance imaging) and CT (computed tomography) scan to confirm the diagnosis or find out how big the LM is and how far it has spread.

How will Seattle Children’s treat an LM?

Lymph Malform Lateral

Lymphatic malformation on the lateral face.

LM treatments include:

  • Sclerotherapy (SCLAIR-oh-THAIR-uh-pee) to reduce the size of the LM by blocking unneeded veins. Doctors inject a chemical that blocks blood flow and causes veins to collapse. Sclerotherapy may cause scarring. In some cases, the LM may not shrink or come back.
  • Surgery to remove the LM. This often requires several surgeries spread out over time. Surgery may not be possible if the LM is widespread and surrounds important body parts and organs. Surgery causes scarring and may damage the body parts that the LM affects.
  • Surgical laser therapy is used depending on the type of LM and is often used along with other treatment options. It requires multiple treatments that are spaced over several months. Laser therapy is done under general anesthesia (a medicine is given to make your child sleep without pain during the treatment). This may cause some tissue scarring and/or changes in the color of the skin. These scarring and color changes can sometimes be improved by additional cosmetic procedures.

Medicines are sometimes used to manage widespread LMs. These include antibiotics, steroids, propranolol, sildenafil, rapamycin and sirolimus. Sirolimus is a medicine that helps with heart and lung problems in patients with lymphatic malformations. Our clinic is one of the first to offer sirolimus to patients.

Why choose Seattle Children’s Vascular Anomalies Program?

Seattle Children’s Vascular Anomalies Program is 1 of only 2 vascular anomalies programs on the West Coast and is nationally recognized. Doctors from across the United States send children here for treatment because of our specialized expertise. We see more children with vascular anomalies than any other hospital in the region.

Our Vascular Anomalies team brings together experts, including otolaryngologists, dermatologists, plastic surgeons, ophthalmologists, geneticists and interventional radiologists. These doctors work together to develop a treatment plan that fits your child’s unique needs. We can schedule your visit so your child sees all the specialists they need on the same day in the same location.

We follow our patients and monitor their condition throughout their lives. Our doctors and nurses are always available to help you and answer questions.

We participate in many clinical trials and studies of new treatments that might be more effective than standard therapy. This means some of our patients get the newest treatments before they are widely available. Learn more about our research.

Contact Us 

To learn more about HHT treatment at Seattle Children’s, call our Vascular Anomalies Program at 206-987-4606.