Diagnosing lymphatic conditions often involves imaging, laboratory testing, and clinical evaluation. The specific tests used depend on symptoms, the areas of the body involved, and whether the condition appears localized or more widespread.
Some people are diagnosed early in life, while others are diagnosed later when symptoms change or progress.
Diagnosing lymphatic conditions often involves imaging, laboratory testing, and clinical evaluation. The specific tests used depend on symptoms, the areas of the body involved, and whether the condition appears localized or more widespread.
Some people are diagnosed early in life, while others are diagnosed later when symptoms change or progress.
Imaging
Imaging is the primary tool used to diagnose complex lymphatic anomalies (CLAs). These tests help identify where abnormal lymphatic vessels or fluid collections are located and how they affect nearby tissues or organs. Imaging includes:
- Ultrasound
Often the first imaging test. It helps distinguish fluid-filled LM cysts from other lumps or masses and may detect LMs before birth during prenatal ultrasound. - Magnetic Resonance Imaging (MRI)
Provides detailed images that show the size of any cysts and whether nearby muscles, nerves, or organs are involved or compressed. - CT scan
Sometimes used as an initial screening test, especially when symptoms are urgent or involve the chest or abdomen. - Dynamic contrast-enhanced magnetic resonance lymphangiography (DCMRL)
A specialized MRI used to evaluate the central lymphatic system and identify abnormal lymphatic flow, blockages, or leaks. - Bone scan
Uses a small amount of radioactive tracer to assess bone activity and identify areas of abnormal bone involvement. - Skeletal survey
A series of X-rays of major bones used to look for skeletal abnormalities. - X-ray
A single image used to evaluate a specific area of concern.
Laboratory Evaluation
Laboratory testing may be used to assess complications or organ involvement and often includes:
- Complete blood count (CBC)
- Comprehensive metabolic panel (CMP)
- Coagulation studies
- Immune testing, when indicated
Genetic Testing
Genetic testing is not required to a CLAs. However, it may be recommended in certain situations—such as when the diagnosis is unclear, symptoms are unusual or severe, or results may help guide treatment decisions.
Important points to understand:
- CLAs can involve different gene pathways, and genetic testing may help clarify diagnosis or guide targeted treatment.
- Most CLAs are caused by somatic mutations, which are not present in every cell. Because of this, genetic testing is often performed on tissue from the affected area rather than blood, and results may sometimes be negative even when a mutation is present.
- Emerging research is exploring the use of cell-free DNA from fluid samples, but this approach is not yet widely available.
- Genetic testing may be required to determine eligibility for certain clinical trials or access to investigational therapies through expanded access or compassionate use programs.
