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Complex Lymphatic Anomalies

Symptoms

Complex lymphatic anomalies (CLAs) are conditions in which abnormal lymphatic vessels affect multiple areas of the body or involve deeper, central lymphatic pathways. Symptoms can vary widely between individuals and may change over time. Some symptoms are present early in life, while others develop gradually as the condition progresses.

Because CLAs can involve several organ systems, symptoms are often more widespread than those seen with isolated lymphatic malformations.


Common Symptoms

People with CLAs may experience:

  • Persistent or recurrent swelling in the chest, abdomen, neck, or limbs
  • Shortness of breath, chest tightness, or cough, often related to fluid around the lungs (pleural effusion) or heart (pericardial effusion)
  • Abdominal swelling or discomfort due to ascites (fluid in the abdomen)
  • Chyle leaks, such as chylothorax (chyle in the chest) or chylous ascites (chyle in the abdomen)
  • Fatigue and chronic pain that affect daily activities
  • Recurrent infections, including respiratory infections

Bone and Structural Symptoms

Some CLAs affect the bones and skeletal system. Symptoms may include:

  • Bone pain or tenderness
  • Fractures, sometimes after minor injury or with no clear trauma
  • Progressive bone loss or changes in bone structure
  • Mobility challenges related to pain, weakness, or skeletal involvement

Skin and Soft Tissue Symptoms

CLAs may also affect the skin and soft tissues, leading to:

  • Swelling or soft tissue fullness
  • Skin discoloration or thickening over affected areas
  • Soft nodules or masses
  • Easy bruising or bleeding due to fragile lymphatic or vascular tissues

Functional and Systemic Effects

Depending on which areas of the body are involved, CLAs may cause additional challenges, such as:

  • Difficulty breathing or reduced exercise tolerance
  • Digestive or nutritional issues related to chyle loss
  • Limb or facial asymmetry
  • Reduced stamina or endurance

Symptoms can fluctuate and may worsen during illness, infection, injury, or periods of physical stress.


How Symptoms May Differ by Type of CLA

Complex lymphatic anomalies include several related conditions, such as generalized lymphatic anomaly (GLA), Gorham–Stout disease (GSD), kaposiform lymphangiomatosis (KLA), central conducting lymphatic anomaly (CCLA), and generalized lymphatic dysplasia (GLD). These conditions share many features, but symptoms can vary depending on which parts of the lymphatic system and body are involved.

For example:

  • Some CLAs primarily affect the central lymphatic system, leading to fluid collections or chyle leaks.
  • Others involve the bones, increasing the risk of pain, fractures, or bone loss.
  • Some are associated with inflammation, bleeding, or lung involvement, which can affect breathing and energy levels.

Many people have overlapping features, and symptoms may change over time. Because of this, care is often guided by symptoms and organ involvement rather than by a single diagnostic label.

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