Primary Intestinal Lymphangiectasia

What is primary intestinal lymphangiectasia?

Primary intestinal lymphangiectasia (pronounced “lim-fang-jee-uhk-tay-zhuh”) (PIL) is a digestive disorder where your child’s small intestine is damaged and leaky. Your small intestine is a long tube where most of your food gets digested and nutrients are absorbed into your bloodstream. In PIL, lymph vessels in your child’s small intestine are swollen (dilated).

Lymph vessels are tiny channels throughout your body that pick up fluids, proteins and other things from your tissues. The lymph vessels then drain this fluid, called lymph, back into your bloodstream. In PIL, the lymph vessels leak fluids and proteins back into your child’s intestine instead of absorbing them.

This leak has two main consequences:

• Low protein levels: Proteins are important for many bodily functions. When they leak out, your body doesn’t have enough. This can lead to swelling throughout your body and another health condition called protein-losing enteropathy.
• Nutrient deficiencies: The leaked fluids might also contain important vitamins and minerals your body needs. This can lead to deficiencies if you don’t address it.

Primary intestinal lymphangiectasia most commonly affects children and young adults. People usually get a diagnosis before they turn 3. But it can also affect adults and even fetuses. There’s no cure, but healthcare providers can manage the symptoms with a special nutrition plan and medication to reduce leakage and swelling. They might also give your child supplements to replace any missing vitamins or minerals.

Other names for primary intestinal lymphangiectasia include:

• Intestinal lymphangiectasia.
• Lymphangiectasia.
• Waldmann disease.

What are the symptoms of lymphangiectasia?

The main symptom of PIL is fluid retention, which healthcare providers call lymphedema. You’ll likely notice it first in your child’s legs and feet (lower extremities). Eventually, they retain so much fluid that their face, arms and genital area also swell. Your child may also have swelling around their heart (pericarditis) and fluid in their chest (pleural effusion) or ascites (abdominal effusion).

Other intestinal lymphangiectasia symptoms may include:

• Abdominal pain.
• Nausea and vomiting.
• Diarrhea.
• Fatigue.
• Weight loss.
• Inability to gain weight (due to malabsorption).

What are the serious complications of lymphangiectasia?

Extreme swelling of your child’s body (anasarca) can be a rare, life-threatening complication of lymphangiectasia.

What causes intestinal lymphangiectasia?

Intestinal lymphangiectasia occurs because of an abnormality in your child’s lymphatic channels. These are a tubular system of channels that transport fats from your child’s small intestine to their liver and other organs. The abnormality causes the lymphatic channels to become blocked. This makes them dilate until they rupture and discharge their contents into your child’s colon. Experts don’t know why this condition occurs.

Is intestinal lymphangiectasia genetic?

Rarely, the condition has affected multiple biological family members, but researchers don’t know for sure if the condition is genetic.

How is lymphangiectasia diagnosed?

In most cases, a healthcare provider will begin by performing a physical exam and asking you about your child’s symptoms. Healthcare providers can sometimes detect lymphangiectasia on prenatal ultrasound if the fetus has signs of edema in its lower limbs.

After birth, your child’s provider will diagnose lymphangiectasia by viewing their intestine using a flexible scope called an endoscope. Your child will be asleep during this process, and they won’t feel a thing. Your child’s provider will remove tissue (biopsy) from several areas of their intestine. A pathologist will examine the tissue samples and look for signs of abnormal dilation in their lymph vessels.

In addition, blood tests may confirm significant protein loss, and a poop (stool) sample may indicate a leakage of lymphatic juices into their small bowel.

What is the best treatment for lymphangiectasia?

Intestinal lymphangiectasia treatment involves changing what your child eats. This is the main weapon against PIL. Think of it like plugging the nutrient leak. Most healthcare providers prescribe a low-fat, high-protein diet.

Fat is harder to digest, and your child’s leaky lymph vessels struggle to absorb it. Their new nutrition plan might include medium-chain triglycerides (MCTs), which are special fats that are easier to absorb. Adding more protein helps to maximize the nutrients they absorb.

Since some nutrients might be leaking out, your child’s provider might recommend vitamins and minerals to make sure your child’s body gets what it needs.

Your child’s healthcare provider might prescribe medications to help with different aspects of lymphangiectasia:

• Diuretics (water pills): These help get rid of excess fluid buildup caused by the protein leak.
• Somatostatin analogs (like octreotide): These can help reduce the leakiness of the lymph vessels.

Other lymphangiectasia treatment options include:

• Surgery: Very rarely, healthcare providers will recommend surgery to remove any diseased portion of your child’s intestine if other treatments haven’t proven useful.
• Other potential treatments: Research is ongoing, and some newer medications are being explored for PIL, like sirolimus. These might be helpful in some cases, but they’re not yet widely used.

Can lymphangiectasia be prevented?

Researchers don’t know the cause of lymphangiectasia, so you can’t prevent the condition.

What is the outlook (prognosis) for lymphangiectasia?

Intestinal lymphangiectasia isn’t curable. Usually, after a few weeks of treatment, your child’s blood protein levels should rise. But they’ll need to stay on a low-fat food plan and supplements for life.

When should my child see their healthcare provider?

You should take your child to their healthcare provider if you notice any swelling in their lower limbs or other signs of lymphangiectasia.

What questions should I ask my child’s healthcare provider?

If your child has lymphangiectasia, you may have many questions for their healthcare provider. Some questions you may want to ask include:

• What’s the best diet for lymphangiectasia?
• What supplements do I need to give my child?
• Is there anything else I can do to keep my child’s symptoms well managed?
• Is lymphangiectasia serious?
• What complications do I need to look out for?

A note from Cleveland Clinic

When the symptoms of primary intestinal lymphangiectasia first appear, they can be bewildering and confusing. You and your child’s healthcare provider may not understand what’s causing them. But they’ll work with you to figure it out. Fortunately, with low-fat foods and supplements, your child’s symptoms should go away in time. Ask your child’s provider what else you can do to help your child manage their condition.