Newsroom

What it is and How the CLA and LM Community Can Stay Involved

Rare Disease Day, observed each year on 28 February, is a global awareness campaign dedicated to improving understanding of rare diseases and their impact on individuals, families, and healthcare systems worldwide. With over 300 million people globally living with a rare disease, Rare Disease Day reminds us that while each condition may be rare, the community affected by rare disease is vast. 

For the complex lymphatic anomaly (CLA) and lymphatic malformation (LM) community, Rare Disease Day is an opportunity to ensure lymphatic conditions remain part of the global rare disease conversation—before, during, and long after the day itself. 

Why Rare Disease Day Matters for the CLA and LM Community 

People living with CLAs and LMs often face many of the same challenges seen across rare diseases, including delayed diagnosis, limited treatment options, and difficulty accessing expert care. Rare Disease Day helps shine a spotlight on these issues while creating space for patient voices, advocacy, and shared learning. 

Importantly, Rare Disease Day is not just about awareness—it’s about equity, visibility, and action. 

How Everyone Can Participate

1. Light Up for Rare: Participate in the "Light Up for Rare" initiative by illuminating your home, a local monument, or a building in colors symbolizing Rare Disease Day at 7 PM your local time on February 28. This visual statement helps increase visibility and sparks conversations about rare diseases. Learn more or download the toolkit.
2. Share Your Story: Share personal stories to inspire others and educate the broader public about the realities of living with a rare disease. Tools on the LGDA website can help you share effectively.
3. Participate in Local Events or Host Your Own: Engage in events or organize one, ranging from educational conferences to community gatherings. Use the Rare Disease Day website to post your event and attract participants. Don't forget to email the information to info@lgdalliance.org. We would love to share it with the CLA Community.
4. Advocacy and Outreach: Engage policymakers and stakeholders to support policies that assist the rare disease community.
5. Educational Campaigns: Utilize educational toolkits to spread knowledge in schools and workplaces. Download toolkits and posters.
6. Social Media Engagement: Use the official campaign materials to engage on social media platforms, sharing information and stories using the hashtags #RareDiseaseDay, #ShowYourRare and #CLAawareness #LMawareness. Find official Rare Disease Day social media frames and graphic online. Explore and download CLA and LM specific images, plus ready-to-use social media text below.

Together, Rare Is Many 

Rare Disease Day is about being seen, being heard, and being valued. By standing together as a community we move closer to a future with better understanding, better care, and better outcomes for everyone affected by complex lymphatic anomalies and lymphatic malformations. 

Social Media Images

The graphics below will be downloaded to your computer or phone to help you celebrate Rare Disease Day. They will not open in a separate tab. They are formatted for Instagram 1080 x 1350 px, but also work for Facebook.

Downloads for Complex Lymphatic Anomalies:

• Shine a light on Complex Lymphatic Anomaly                  
• Shine a light on Central Conducting Lymphatic Anomaly
• Shine a light on Generalized Lymphatic Anomaly
• Shine a light on Gorham Stout Disease
• Shine a light on Kaposiform Lymphangiomatosis Anomaly
• I'm Rare! I have a Complex Lymphatic Anomaly
• I love Someone with a Complex Lymphatic Anomaly

Downloads for Lymphatic Malformations:

• Shine A Light on Lymphatic Malformations
• I'm Rare! I have a Lymphatic Malformation
• I Love Someone with a Lymphatic Malformation

General: I Support Rare Disease Day

• English CLA 
• English LM 
• French CLA
• French LM 
• Italian CLA
• Italian LM
• Spanish CLA
• Spanish LM
• German CLA
• German LM

Text for Social Media Posts

Understanding Complex Lymphatic Anomalies (CLA)

Did you know that Complex Lymphatic Anomalies (CLA) encompass a range of rare diseases like Gorham-Stout Disease and Kaposiform Lymphangiomatosis? These disorders involve abnormal growth of lymphatic vessels, potentially affecting multiple organs and causing diverse symptoms. Learn more about CLA, its impact, and the ongoing research to find better treatments. Let's spread awareness and support for those affected by these challenging conditions. 

Learn More

Understanding Generalized Lymphatic Anomaly (GLA) 

Did you know that Generalized Lymphatic Anomaly, once known as Lymphangiomatosis, affects the body's lymphatic system, involving multiple areas including soft tissues, bones, and vital organs such as the spleen?

GLA can emerge at birth but is often discovered during childhood or early adulthood, marking a critical need for awareness and timely diagnosis. This condition can lead to complications like abnormal fluid collection around the heart, lungs, and abdomen, and even impact bone health, most commonly affecting the ribs and spine.

Interestingly, research has linked GLA to mutations in the PIK3CA gene, offering a glimpse of hope towards understanding and potentially targeting the disease more effectively.

Why Should We Care?

Awareness is the first step towards support, research, and treatment. By understanding more about GLA, we can foster a community that supports affected individuals and their families, encourages early diagnosis, and promotes research into treatments.

Let's spread the word about GLA. Sharing knowledge can empower others and highlight the importance of research in rare diseases. Whether you're a medical professional, a patient, a caregiver, or simply an advocate for health awareness, your voice matters.

What Can You Do?

• Educate yourself and others about GLA and its impact on individuals and families.
• Support research and organizations dedicated to diseases like Generalized Lymphatic Anomaly.
• Share this post to raise awareness and build a community of care and support.

Together, we can make a difference in the lives of those affected by Generalized Lymphatic Anomaly. 

Shining a Light on Gorham Stout Disease (GSD) 

Ever heard of the "Vanishing Bone Disease"? Gorham-Stout Disease is a rare medical condition characterized by the progressive loss of bone's hard outer surface, leading to what's often described as bones "disappearing." This disease primarily affects the axial skeleton, including the head, neck, back, and chest.

GSD is unpredictable – it can progress rapidly or may spontaneously stabilize, challenging those affected and their healthcare providers. The disease can extend to nearby bones and cause a variety of symptoms, from pathologic fractures to serious complications like fluid buildup around the heart and lungs, cerebral spinal fluid leaks, and even paralysis due to neurological damage.

Understanding the Cause

Research suggests that mutations in the KRAS gene play a significant role in the development of GSD, opening the door for potential targeted treatments in the future.

Why This Matters

Awareness about Gorham-Stout Disease is crucial. It not only helps in early diagnosis and management but also supports affected individuals and their families by fostering a community of understanding and support.

Let’s Spread the Word

• Educate yourself and others about the challenges and realities of living with GSD.
• Advocate for research and development in treatments for rare diseases like GSD.
• Share this post to raise awareness and show support for those affected by this rare condition.

Your voice can make a difference. By bringing attention to Gorham-Stout Disease, we can encourage research, support affected individuals, and build a community of care and understanding. Together, we can face the challenges of rare diseases like GSD.

Raising Awareness for Kaposiform Lymphangiomatosis (KLA) 

Kaposiform Lymphangiomatosis, or KLA, represents a rare yet aggressive form of lymphatic anomaly that blends aspects of neoplasia (uncontrolled cell growth) and malformation. This condition is more severe and aggressive than Generalized Lymphatic Anomaly (GLA), with unique challenges including rapid growth, potential for significant bleeding, and commonly affecting the chest area.

KLA is notable for its overlap with both Generalized Lymphatic Anomaly (GLA) and Central Conducting Lymphatic Anomaly (CCLA), yet it stands out due to the presence of spindle cells and a tendency for progressive and extensive growth.

Diagnosis and Causes

Diagnosing KLA involves detecting elevated levels of angiopoietin 2 (Ang2) in the blood, a protein that plays a critical role in the growth of endothelial cells. Research points towards mutations in the NRAS, CBL, or HRAS genes as potential causes, paving the way for targeted research and treatment strategies.

Why It's Important

Awareness and understanding of Kaposiform Lymphangiomatosis are vital. By educating ourselves and the community, we can support those affected and promote research into more effective treatments.

How You Can Help

• Learn and share information about KLA to increase awareness.
• Support research efforts and organizations dedicated to studying KLA and similar lymphatic anomalies.
• Engage in conversations to spread knowledge and reduce the isolation felt by families dealing with KLA.

Your support can light the way for advancements in care and treatment for those affected by Kaposiform Lymphangiomatosis. Let's come together to make a difference in the lives of those battling KLA.

Spotlight on Central Conducting Lymphatic Anomaly (CCLA)

Central Conducting Lymphatic Anomaly, or CCLA, is a lesser-known yet significant condition affecting the lymphatic system, particularly within the torso. This anomaly leads to dilated and dysfunctional lymphatic vessels, which can cause lymphatic fluid to backflow into tissues, resulting in various complications.

Patients with CCLA may experience symptoms such as lymphatic fluid accumulation around the lungs (chylous effusions), excess fluid in the abdomen (ascites), loss of lymph fluid through the intestines (protein losing enteropathy), and swelling in the legs and feet. These symptoms arise from the abnormal formation of lymphatic valves and the subsequent dysfunction of large lymphatic vessels.

Understanding the Causes

CCLA can be caused by both inherited mutations (in genes like EPHB4 and MDFIC) and somatic mutations (in genes such as ARAF, KRAS, and BRAF). This insight into the genetic basis of CCLA opens potential pathways for targeted treatments and interventions.

Why Awareness Matters

Raising awareness about CCLA is crucial for several reasons. It helps in recognizing symptoms early, supporting affected individuals, and encouraging research into effective treatments. Awareness also builds a community of support for those affected, reducing isolation and fostering understanding.

How You Can Contribute

• Educate yourself and others about CCLA and its effects on those who live with it.
• Advocate for research funding and support services for individuals with lymphatic anomalies.
• Share this post to spread the word and increase awareness of CCLA.

By shining a light on Central Conducting Lymphatic Anomaly, we can help affected individuals receive the recognition and support they need. Let’s stand together in spreading knowledge and compassion for those facing CCLA.

Shining a Light on Lymphatic Malformations (LMs)

Ever heard of the lymphatic system—or what happens when it doesn’t form correctly?

Lymphatic malformations (LMs) are rare conditions that occur when parts of the lymphatic system develop abnormally. These malformations are made up of fluid-filled cysts and are most often present at birth, though they may not be noticed until later in childhood—or even adulthood.

This post focuses on isolated lymphatic malformations, meaning they affect one area of the body, such as the neck, cheek, arm, leg, or chest wall.

Why Lymphatic Malformations Are so Unique

No two LMs are exactly alike. They can vary widely in size and depth, location in the body, and symptoms and complications. Some LMs remain stable for years, while others may swell suddenly due to infection, inflammation, or trauma—making them unpredictable and challenging to manage.

What Causes Lymphatic Malformations?

Most isolated LMs are caused by somatic (mosaic) genetic variants, meaning: 

• The gene change occurs after conception. 
• Only some cells are affected
• The condition is not inherited

Interesting Fact:
The most common gene involved in isolated LMs is PIK3CA, which affects how cells grow and divide. Less commonly, variants in BRAF may also play a role. These discoveries are opening the door to targeted treatments.

Types of Lymphatic Malformations

There are three main types of isolated LMs:

• Macrocystic LMs
  Made up of large, fluid-filled cysts—often described as feeling like soft “water balloons.” These commonly appear in the neck or underarms and may change in size over time.
• Microcystic LMs
  Composed of many tiny cysts that often affect the skin or mucous membranes, such as the mouth or tongue. They can cause swelling, pain, bleeding, or leakage of clear lymph fluid.
• Mixed (Macro–Microcystic) LMs
  A combination of both large and small cysts, which can involve both surface and deeper tissues.

Why Awareness Matters

Because lymphatic malformations are rare, many individuals and families face delayed diagnosis, limited treatment options and a lack of understanding from others.  Raising awareness helps improve recognition, supports research, and connects families to vital resources and community support.

How You Can Help

• Learn about lymphatic malformations
• Share accurate, trusted information
• Advocate for LM research

Your voice matters. By shining a light on lymphatic malformations, we can promote understanding, advance research, and build a stronger LM community—together.