Primary lymphedema with systemic or visceral involvement

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Overview

Primary lymphedema with systemic or visceral involvement is a rare condition where the lymphatic system — the network of vessels that drains fluid from body tissues — does not work properly. Unlike typical lymphedema, which mainly causes swelling in the arms or legs, this form also affects internal organs and body systems. The lymphatic system plays a key role in fluid balance, immune defense, and fat absorption, so when it fails in multiple areas, the effects can be widespread and serious. People with this condition may experience swelling in the limbs as well as fluid buildup around the lungs (pleural effusion), heart (pericardial effusion), or abdomen (ascites). The intestines, liver, and other organs can also be affected, leading to problems with nutrition and digestion. Some individuals are born with signs of the condition, while others develop symptoms later in childhood or adulthood. Treatment focuses on managing symptoms rather than curing the underlying cause. This includes compression therapy, specialized massage techniques called manual lymphatic drainage, dietary changes (especially low-fat diets with medium-chain triglycerides), and sometimes medications or procedures to drain fluid from body cavities. A team of specialists is usually needed to manage the many ways this condition can affect the body.

Key symptoms:

Swelling (lymphedema) in the arms, legs, or other body partsFluid buildup around the lungs, making breathing difficultFluid buildup in the abdomen, causing bloating and discomfortFluid around the heartProtein loss through the gut, leading to poor nutritionSwollen, leaky lymph vessels in the intestines (intestinal lymphangiectasia)Recurrent infections due to immune system problemsSkin changes such as thickening or wart-like growths over swollen areasFatigue and low energyPoor weight gain or growth in childrenDiarrhea or fatty stoolsLow levels of protein and immune cells in the blood

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 Primary lymphedema with systemic or visceral involvement.

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No actively recruiting trials found for Primary lymphedema with systemic or visceral involvement at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Primary lymphedema with systemic or visceral involvement community →

No specialists are currently listed for Primary lymphedema with systemic or visceral involvement.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

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 Primary lymphedema with systemic or visceral involvement.

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Community

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Latest news about Primary lymphedema with systemic or visceral involvement

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

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Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.Which organs or body systems are affected in my specific case, and how will we monitor them over time?,Should I have genetic testing, and if a gene change is found, what does that mean for my treatment and my family members?,What dietary changes do you recommend, and should I work with a specialized dietitian?,Are there any clinical trials or newer treatments like sirolimus that might be appropriate for me?,What signs of complications should prompt me to go to the emergency room?,How often do I need follow-up imaging or blood tests to track the condition?,Are there lymphedema specialists or lymphatic disease centers you can refer me to for more specialized care?

Common questions about Primary lymphedema with systemic or visceral involvement

What is Primary lymphedema with systemic or visceral involvement?

Primary lymphedema with systemic or visceral involvement is a rare condition where the lymphatic system — the network of vessels that drains fluid from body tissues — does not work properly. Unlike typical lymphedema, which mainly causes swelling in the arms or legs, this form also affects internal organs and body systems. The lymphatic system plays a key role in fluid balance, immune defense, and fat absorption, so when it fails in multiple areas, the effects can be widespread and serious. People with this condition may experience swelling in the limbs as well as fluid buildup around the lun