Complex Lymphatic Anomalies (Lymphangiomatosis)

What are complex lymphatic anomalies (formerly known as lymphangiomatosis)?

Complex lymphatic anomalies (CLAs) are rare congenital (present at birth) conditions. Children with CLAs develop noncancerous (benign) cysts called lymphatic malformations — or lymphangiomas — in their lymphatic system. The cysts can grow into your child’s bones, connective tissue and organs, damaging them.

Children with complex lymphatic anomalies (lymphangiomatosis) are born with it, but symptoms usually don’t appear until they get older.

“Complex lymphatic anomalies” is the current, updated term. Healthcare providers used to call this condition “lymphangiomatosis.” So, you may hear both terms used interchangeably.

What is the lymphatic system?

Your lymphatic system is part of your immune system. It helps your body fight off diseases. It’s made up of a network of lymphatic vessels and tissues, glands like your lymph nodes and organs like your spleen. Lymphatic vessels are small tubes that collect and filter lymphatic fluid (lymph) from tissues in your body. The vessels then circulate the cleansed lymph back into your bloodstream.

Isolated CLAs vs. systemic CLAs: What’s the difference?

Complex lymphatic anomalies are either isolated (affecting only one area of your child’s body) or systemic (affecting multiple areas of your child’s body). Children with isolated CLAs most commonly develop cysts in their chest cavity. This usually affects their lungs and the soft tissue of their chest (mediastinum). Children with systemic CLAs usually have cysts in several areas of their body, including their bones, chest and abdomen.

What are the types of complex lymphatic anomalies?

There are four different types of CLAs. Though they share many of the same symptoms, they’re different diseases with different presentations and unique gene mutations. The four types of CLAs include:

• Generalized lymphatic anomaly (GLA). This condition usually affects multiple areas of your child’s body, including their bone, spleen, liver, lungs and mediastinum (the soft tissue of their chest).
• Kaposiform lymphangiomatosis (KLA). The most aggressive of the CLAs, kaposiform lymphangiomatosis causes the vessels that carry lymphatic fluid throughout your child’s body to expand. As a result, the vessels invade and damage surrounding organs, bones and tissues.
• Central conduction lymphatic anomaly (CCLA). Children with CCLA also develop enlarged lymphatic vessels. But with CCLA, most of those vessels are in the torso. This can lead to an impaired digestive system. As a result, your child is unable to effectively clear lymph from their system.
• Gorham-Stout Disease (GSD). Gorham’s disease causes lymphatic vessels to form inside bone, leading to excessive bone loss. Another common name for GSD is “vanishing bone disease.” The condition can affect any bone. But, children with GSD often develop bone loss in their ribs, skull, collarbone and cervical spine (the neck area).

How common are complex lymphatic anomalies (lymphangiomatosis)?

CLAs are rare. Because these conditions are so uncommon, healthcare providers sometimes have a difficult time diagnosing them.

What causes complex lymphatic anomalies (lymphangiomatosis)?

Experts are currently learning more about what causes complex lymphatic anomalies (lymphangiomatosis). For instance, recent research reveals that both hereditary gene mutations (passed from parents to children) and somatic gene mutations (changes that happen after birth) cause the condition.

Who is at risk for complex lymphatic anomalies (lymphangiomatosis)?

Complex lymphatic anomalies (lymphangiomatosis) can affect anyone. Signs of the disease don’t typically appear until later in childhood or during the teenage years.

What are the symptoms of complex lymphatic anomalies (lymphangiomatosis)?

Symptoms of complex lymphatic anomalies (lymphangiomatosis) vary depending on the affected organ system and the severity of the disease. The condition tends to progress slowly, causing symptoms that are easy to dismiss or mistake for something else.

CLAs that affect your child’s respiratory system can cause symptoms similar to asthma, such as:

• Chronic cough.
• Shortness of breath (dyspnea).
• Wheezing.

When CLAs affect your child’s skeletal system, symptoms include:

• Bone or joint pain.
• Fractures.
• Numbness.
• Pinched nerves.

CLAs that affect your child’s digestive system may cause:

• Abdominal distension and abdominal pain.
• Anemia and fatigue.
• Diarrhea.
• Loss of appetite.
• Nausea and vomiting.
• Unexplained weight loss.

CLAs that affect your child’s urinary system may cause:

• Blood in urine (hematuria).
• Flank pain.
• High blood pressure in children.

How are complex lymphatic anomalies diagnosed?

CLAs are rare, and the symptoms vary. This makes it a challenge to get an accurate diagnosis. Because the disease most commonly affects children’s lungs and bones, your child’s healthcare provider may order these tests:

• Bronchoscopy to rule out infection as a cause or to check for abnormalities in your child’s airways.
• Pulmonary function testing to check the measure of lung dysfunction.
• Whole-body MRI to look for affected organs, bone lesions or fluid in your child’s abdomen.
• X-rays of any bones that look suspicious or have lesions on your child’s whole-body MRI.
• Chest X-rays to check for abnormalities in your child’s lungs.

Healthcare providers sometimes remove lymphatic vessels and tissue to examine under a microscope. While this type of biopsy can definitively diagnose complex lymphatic anomalies (lymphangiomatosis), it can sometimes cause lymph to collect around the lung (chylothorax) or other complications. For this reason, providers often rely on less invasive tests to make a diagnosis.

How do providers treat complex lymphatic anomalies (lymphangiomatosis)?

Because CLAs affect multiple areas of your child’s body, healthcare providers will use a multidisciplinary approach to meet their needs. Treatments for CLAs focus on managing your child’s symptoms. They include:

• Bone grafting.
• High-protein diet or IV nutrients (total parenteral nutrition or TPN).
• Sclerotherapy to shrink or collapse cysts or lymphatic vessels.
• Surgery to remove cysts or place shunts that allow lymph fluid to drain.
• Radiation therapy or chemotherapy to shrink noncancerous cysts (only in severe, life-threatening cases).

Healthcare providers often use therapies that target the underlying genetic mutations. This approach is increasingly successful when used as front line therapy for CLAs.

Can you prevent complex lymphatic anomalies (lymphangiomatosis)?

No. CLAs occur for unknown reasons while your baby forms in the womb. There isn’t anything you can do to prevent your child from developing these conditions.

What are the complications of complex lymphatic anomalies (lymphangiomatosis)?

CLAs increase your child’s risk of:

• Ascites (fluid buildup in your child’s abdomen).
• Bone fractures.
• Chylothorax and chylopericardium (chyle — a milky fluid containing lymph and fat — in your child’s pericardium, the sac that holds their heart).
• Collapsed lung (pneumothorax).
• Liver failure.
• Paralysis.
• Pericardial effusion (fluid in your child’s pericardium).
• Pleural effusion and cardiogenic pulmonary edema (fluid in or around your child’s lungs).

What is the outlook for someone with complex lymphatic anomalies (lymphangiomatosis)?

There’s no cure for complex lymphatic anomalies (lymphangiomatosis). Your child’s outlook depends on their affected body systems and severity of symptoms.

The leading cause of death in people with CLAs is pleural effusions (fluid around the lungs).

When should I call the doctor?

You should call your provider if your child has:

• Abdominal or flank pain.
• Blood in their urine.
• Chronic cough, wheezing or shortness of breath.
• Unexplained nausea, fatigue or weight loss.

What should I ask my provider?

You may want to ask your child’s healthcare provider:

• What parts of my child’s body does the condition affect?
• What are my child’s treatment options?
• Does my child need surgery?
• Should I look for signs of complications?

A note from Cleveland Clinic

It’s normal to have fears and concerns about what a CLA (lymphangiomatosis) diagnosis means for your child’s health and future. Like most of us, you’ve probably never heard of it before, and there’s nothing you could have done to prevent it.

Learning more about the disease, including its symptoms and treatments, is a good first step to helping your child. See a specialist who has experience treating lymphatic system disorders. They can answer your questions and provide the type of specialized medical care your child needs. While there’s not yet a cure for CLAs, treatments can help your child get the most enjoyment from life.