Intestinal lymphangiectasia

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1Specialists8Treatment centers

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Overview

Intestinal lymphangiectasia (IL), also called Waldmann's disease or protein-losing enteropathy due to lymphangiectasia, is a rare condition where the lymphatic vessels inside the small intestine become abnormally widened and dilated. These vessels are part of the body's lymphatic system, which normally helps absorb fats and proteins from food and carries immune cells throughout the body. When these vessels are damaged or blocked, they can leak lymph fluid — a protein-rich fluid — directly into the gut. This causes the body to lose large amounts of protein, fats, and immune cells through the digestive tract instead of absorbing them properly. The condition can be primary (present from birth due to a developmental problem with the lymphatic system) or secondary (caused by another disease such as heart failure, infection, or inflammation that blocks lymph flow). The most common symptoms include severe swelling of the legs and abdomen, diarrhea, weight loss, and a weakened immune system. Because the body loses so many proteins and immune cells, people with IL are at higher risk for infections and nutritional deficiencies. Treatment focuses on managing symptoms and improving nutrition. A special low-fat, high-protein diet with medium-chain triglyceride (MCT) fats is the cornerstone of care. MCT fats bypass the damaged lymphatic vessels and are absorbed directly into the bloodstream. For secondary cases, treating the underlying cause can sometimes reverse the condition. There is currently no cure for primary intestinal lymphangiectasia, but with careful dietary management, many people can lead relatively stable lives.

Key symptoms:

Swelling of the legs, feet, or ankles (edema)Swelling of the abdomen (ascites)Chronic or recurring diarrheaUnintended weight lossFatigue and low energyNauseaFrequent infections due to low immune cell countsLow levels of protein in the bloodNutritional deficiencies (low calcium, vitamins, and minerals)Muscle cramps or weakness from low calciumSwelling of the face or around the eyesSlow growth or failure to thrive in childrenPale or fatty stools

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Intestinal lymphangiectasia.

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No actively recruiting trials found for Intestinal lymphangiectasia at this time.

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Specialists

1 foundView all specialists →
SM
Sarah E Sheppard, M.D.
Specialist
PI on 1 active trial

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Intestinal lymphangiectasia.

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Community

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Latest news about Intestinal lymphangiectasia

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Caregiver Resources

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Social Security Disability

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Questions for your doctor

Bring these to your next appointment

  • Q1.Is my intestinal lymphangiectasia primary or secondary, and does that change my treatment plan?,Should I have genetic testing, and could this condition affect other family members?,How strictly do I need to follow the low-fat MCT diet, and can a dietitian help me plan meals?,What vitamin and protein supplements do I need, and how will we monitor whether they are working?,What signs of infection or complications should prompt me to seek emergency care?,Are there any clinical trials or newer treatments I should know about?,How often do I need blood tests and follow-up appointments to monitor my condition?

Common questions about Intestinal lymphangiectasia

What is Intestinal lymphangiectasia?

Intestinal lymphangiectasia (IL), also called Waldmann's disease or protein-losing enteropathy due to lymphangiectasia, is a rare condition where the lymphatic vessels inside the small intestine become abnormally widened and dilated. These vessels are part of the body's lymphatic system, which normally helps absorb fats and proteins from food and carries immune cells throughout the body. When these vessels are damaged or blocked, they can leak lymph fluid — a protein-rich fluid — directly into the gut. This causes the body to lose large amounts of protein, fats, and immune cells through the di

Which specialists treat Intestinal lymphangiectasia?

1 specialists and care centers treating Intestinal lymphangiectasia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.