What is Lymphatic Malformations? Diagnosis and Treatment

Written by Medicover Team and Medically Reviewed by Dr Gnaneswar Atturu , Vascular and Endovascular Surgeon

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1. Causes 2. Find a Doctor 3. Diagnosis 4. Treatment 5. FAQs

Lymphatic malformations are a rare condition involving abnormal growth of the lymphatic vessels. This results in the formation of fluid-filled cysts or masses in the body. While the exact cause is not fully understood, it is believed to occur during fetal development. These malformations can vary in size and location, potentially causing discomfort or complications.

If you or a loved one have been diagnosed with lymphatic malformations, it's important to work closely with your healthcare team to manage the condition effectively. Understanding more about this condition can help you make informed decisions about your care.

What are the Types of Lymphatic Malformations?

Lymphatic malformations can be categorized into three main types: macrocystic, microcystic, and combined. Macrocystic malformations consist of large fluid-filled cysts, while microcystic malformations are made up of smaller cysts. Combined malformations involve a mix of both large and small cysts. Each type of lymphatic malformation may present with different symptoms and require specific treatment approaches.

Lymphaticovenous Malformation (LVM): A rare type of lymphatic malformation involving abnormal connections between the lymphatic and venous systems, leading to fluid buildup and soft tissue swelling.
Cystic Hygroma: Also known as lymphangioma, this type is characterized by fluid-filled cysts that usually develop in the head and neck region, causing swelling and, in some cases, breathing difficulties.
Gorham-Stout Disease: Also called vanishing bone disease, this rare condition involves abnormal lymphatic vessel growth within bones, resulting in bone destruction and weakening.

What are the Symptoms of Lymphatic Malformations?

Lymphatic malformations can cause swelling, pain, and a feeling of fullness in the affected area. You may notice lumps or bumps under the skin, difficulty swallowing, or trouble breathing if the malformation develops in the head or neck. In severe cases, it can lead to infections or fluid leakage. Treatment depends on the size, location, and severity of the malformation.

Soft swelling or lump in the neck, armpit, groin, or other body parts.
Difficulty swallowing or breathing if the malformation compresses nearby structures.
Skin discoloration or a bluish appearance over the affected area.
Recurrent infections causing redness, pain, and swelling.
Limited movement of nearby joints or limbs due to the size of the malformation.

What are the Causes of Lymphatic Malformations?

Lymphatic malformations develop because of abnormal formation of the lymphatic vessels during fetal development, resulting in fluid accumulation and cyst formation. Although many cases occur sporadically, certain genetic mutations and developmental abnormalities may contribute to the condition.

Abnormal development of lymphatic vessels before birth.
Genetic mutations affecting the lymphatic system.
Trauma or injury to lymphatic vessels in rare cases.
Inflammation or infection involving the lymphatic system.
Hormonal changes that may stimulate enlargement of an existing malformation.

When to see a Doctor for Lymphatic Malformations?

If you or your child notice a soft swelling under the skin, recurrent infections, pain, bleeding, difficulty breathing or swallowing, or a rapidly enlarging lump, consult a Vascular and Endovascular Surgeon for a comprehensive evaluation. Early diagnosis and treatment can help prevent complications and improve outcomes. Seek immediate medical attention if the swelling suddenly enlarges, becomes severely painful, causes breathing difficulties, or is associated with significant bleeding or infection.

A soft, painless lump or swelling present at birth or developing during childhood.
Rapid enlargement of a lymphatic malformation.
Pain, tenderness, or discomfort in the affected area.
Redness, warmth, fever, or other signs of infection.
Repeated bleeding or fluid leakage from the affected area.
Difficulty swallowing, speaking, or breathing if the malformation affects the head or neck.
Reduced movement or function of a nearby joint or limb.
Persistent swelling that interferes with daily activities or causes cosmetic concerns.
Frequent recurrence after previous treatment.
Sudden severe swelling, breathing difficulty, uncontrolled bleeding, or severe infection requiring emergency medical care.

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How are Lymphatic Malformations Diagnosed?

Diagnosing lymphatic malformations usually involves a physical examination, medical history, and imaging studies to determine the size, location, and extent of the abnormality. In some cases, additional tests are performed to confirm the diagnosis and guide treatment.

Ultrasound imaging to evaluate the affected area.
MRI (Magnetic Resonance Imaging) for detailed visualization of the malformation.
CT (Computed Tomography) scan to assess the size and location.
Lymphangiography using contrast dye to examine lymphatic vessels.
Biopsy when needed to confirm the diagnosis and exclude other conditions.

What are the Treatment Options for Lymphatic Malformations?

Treatment depends on the size, location, symptoms, and severity of the lymphatic malformation. Management may include observation, medications, minimally invasive procedures, or surgery.

Sclerotherapy: Injection of a sclerosing agent to shrink abnormal lymphatic vessels.
Surgical Excision: Removal of large or symptomatic malformations when feasible.
Laser Therapy: Uses laser energy to treat superficial lymphatic malformations and reduce symptoms.
Medications: Drugs such as sirolimus may help reduce abnormal lymphatic vessel growth and improve symptoms.

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What are the Risk Factors for Lymphatic Malformations?

Several factors may increase the likelihood of developing lymphatic malformations, although many cases occur without a known cause.

Family history of lymphatic malformations.
Genetic mutations affecting lymphatic vessel development.
Inherited conditions such as Klippel-Trenaunay syndrome or Turner syndrome.
Maternal exposure to certain medications or infections during pregnancy.
Previous trauma or injury involving the lymphatic system.

Frequently Asked Questions

1. How do I recognize the signs of Lymphatic Malformations?

Look for swelling, pain, and a soft mass under the skin. If it affects organs, symptoms like difficulty breathing or swallowing may occur.

2. Are there specific things I should or shouldn't do when dealing with Lymphatic Malformations?

Avoid trauma to the affected area. Seek medical advice for management options like observation, sclerotherapy, surgery, or medication for symptoms.

3. What are the potential complications of Lymphatic Malformations?

Complications of Lymphatic Malformations include infection, swelling, pain, and cosmetic deformities. Rarely, they can affect nearby structures leading to serious issues.

4. How can Lymphatic Malformations be treated and controlled?

Lymphatic Malformations can be treated with surgery, sclerotherapy, or laser therapy. Regular monitoring and management of symptoms are important for control.