Lymphatic malformations revisited: Genetics, clinics and future directions

Area of Science:

• Vascular Biology
• Rare Diseases
• Genetics

Background:

• Lymphatic malformations (LMs) are rare congenital vascular anomalies presenting diagnostic and therapeutic challenges.
• Their rarity, variable presentation, and recurrence potential complicate clinical management.
• Disseminating current knowledge is crucial for optimizing referral pathways and patient outcomes.

Purpose of the Study:

• To provide a narrative review of the latest developments in the aetiopathogenesis, diagnosis, and management of lymphatic malformations.
• To synthesize multidisciplinary recommendations from the European Reference Network on Rare Multisystemic Vascular Diseases, Vascular Anomalies working group.
• To highlight the impact of new genetic insights and diagnostic advancements on treatment strategies.

Main Methods:

• A literature search was conducted to identify and include the latest research on lymphatic malformations.
• The review is based on the synthesis of current literature and expert recommendations.
• Focus on aetiopathogenesis, diagnostic advancements, and multimodal treatment approaches.

Main Results:

• Understanding LM aetiopathogenesis, including new genetic insights, is critical for guiding management.
• Diagnostic advancements improve differentiation of LM types and anatomical infiltration imaging.
• Treatment is increasingly multimodal, tailored to specific malformation types and locations.

Conclusions:

• Advances in understanding LM aetiopathogenesis and diagnostics are transforming management strategies.
• Multimodal treatment approaches are becoming standard for complex lymphatic malformations.
• Further large-scale prospective studies and meta-analyses are needed to enhance evidence-based practice.