Lymphatic Malformation Symptoms and Diagnosis :: Nationwide Children's Hospital

Lymphatic Malformation Symptoms and Diagnosis

Lymphatic malformations can be found in many locations and symptoms can vary. Here we provide basic symptom and diagnosis information. If your child has been diagnosed with a lymphatic malformation, discuss treatment options with your primary care physician.

If you are interested in minimally-invasive treatment options, call our Interventional Coordinator at (614) 722-2375 to set up a consultation with an Interventional Radiologist. Our team works with other specialists in a multidisciplinary Vascular Anomalies and Hemangioma management team, and consultations with surgeons and dermatologists can also be coordinated.

Lymphatic Malformation Symptoms

  • Swelling
  • Pain
  • Bleeding
  • Infection (in some cases)
  • Visual problems, eye bulging (proptosis) or even blindness (if located in the eye)

Causes of a Lymphatic Malformation

A lymphatic malformation is a result of abnormal development (malformation) of the branching and interconnecting lymphatic ducts, the fluid (yellow fluid) cannot move forward and becomes trapped in small and large bubbles (cysts), which result in a lymphatic malformation. "Yellow blood" travels in lymphatic vessels (channels or ducts). This occurs because the arteries carry red blood cells in liquid to tissues to deliver oxygen. As the red blood cells are squeezed through the tiny capillaries so oxygen can diffuse into body tissues, the "yellow" liquid that carries the red blood cells gets squished from the capillaries into the tissues next to the capillaries.

The lymphatic vessels carry the "yellow blood" from the body tissues back to the heart to mix with the blood from the veins. Blood vessels in the body should be slender tubes that branch, merge into larger tubes downstream, until they reach the large main vein (vena cava) in the body. Lymphatic vessels should also branch (when normally developed) as slender fluid-carrying tubes. With abnormal development, the lymphatic ducts develop incorrectly (lymphatic malformation), and instead of branching vessels, the lymphatic malformation has a cluster of bubbles (cysts) in which the lymphatic fluid (yellow blood) cannot move forward and is trapped in small and large bubbles (cysts).

Diagnosing a Lymphatic Malformation

Ultrasound, MRI or CT scan examinations are commonly used to help diagnose a lymphatic malformation. Definite tissue diagnosis is made with either a surgical biopsy or special, minimally-invasive samples using a small tube placed into the lymphatic malformation to obtain fluid and cells from the walls of the cysts.

More than half are recognized at birth and 90 percent before 2 years of age. Occasionally, lymphatic malformations may first show with a visible mass in early or late adulthood. A lymphatic malformation that is diagnosed at birth usually presents as a soft, spongy, non-tender mass. In older children and adults, a lymphatic malformation may present with rapid development of a firm painful mass, occurring as a result of hemorrhage (bleeding) into previously undiagnosed lymphatic malformation cysts. In this situation, lymphatic malformations may fill up "over night" and be, for the first time, a large painful mass, within hours.

A lymphatic malformation is most frequently diagnosed in the head and neck (including face and tongue), but can show in other locations including the eye (orbit), chest, abdomen, extremities, scrotum and penis.

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