Lymphatic Malformations

Lymphatic malformations (LM) are benign (non-cancerous), abnormal growths in the lymphatic system that occur due to abnormal development. These abnormal areas “balloon” out as fluid-filled spaces (cysts) that expand into the soft tissues. Lymphatic malformations vary in size and appear red or blue due to the involvement of adjacent vessels. They occur in males and females equally, however, it is an uncommon disease and thought to affect around 1 in 4000 live newborns.¹

The lymphatic system is an integral part of your body’s vasculature and helps fight infections. It consists of a vast network of vessels (like veins) that carry a water-like fluid called lymph. This watery fluid (lymph) is gathered from all of the body tissues, and contains cellular debris, bacteria, viruses, and any other waste products. Eventually, lymph makes part of the bloodstream from where the waste products are cleared.^1,2

Some other significant components of the lymphatic system are the lymph nodes and spleen. These organs (secondary lymphoid organs) act as checkpoints, placed between the lymphatic vessels, and detect any foreign body (bacteria, virus, etc.). If any unfamiliar invasion is detected, the immune system gets alerted, and an immune response is generated.³

 Back to the topic, LMs tend to produce various symptoms, and their severity differs from person to person. While they can occur anywhere in the body, they typically appear on the head and neck. The symptoms associated with LMs are usually caused by mass-effect, i.e., compressing other organs.²

Lymphatic malformations are congenital lesions i.e., they are present before you’re born. They can be diagnosed before birth during a prenatal ultrasound but most of LMs are detected around 2-3 years of age.⁴

The diagnosis is primarily based upon physical examination however additional imaging modalities can be used. These include:

• Ultrasound
• Magnetic resonating imaging (MRI)
• Computed tomography (CT) scan⁴

Like many other vascular anomalies, the symptoms associated with LM vary depending on the type, size, and location of the lesion (mass). Most children present with complaints of specific organs like the brain caused by compression from the LM. Some common presentations of the patients include:

• A soft, smooth mass (lump) often present on the head, neck, mouth, eye, chest, or limbs. These lumps can appear blue or red in color and contain clear fluid in them.
• Recurrent infections – this is one of the common presentation. Problems with the lymphatic system of your child makes them prone to various illnesses like flu, etc.
• Swelling of an affected area like lips, tongue, jaws, cheeks, arms
• Difficulty is speaking or breathing (due to compression of vocal cords or trachea)
• Difficulty swallowing (due to compression of esophagus)
• Vision problems like double vision or eye ball displacement
• Neurological problems like confusion and seizures
• Gastrointestinal problems like constipation, diarrhea, and vomiting ^1,5

The underlying mechanism or cause for the abnormal development of LMs is not fully understood. In many cases, it occurs due to a non-inherited mutation in the PIK3CA gene. This mutation leads to abnormal signaling during the development of lymphatic vessels. In other instances, LMs are a part of broader congenital conditions like Turner syndrome, Down syndrome, and Noonan syndrome.^1,4

Lymphatic malformations can be asymptomatic but due to their abnormal positioning can lead to several complications. Common complications that your child might experience include:

• Problems in breathing, speaking, and swallowing
• Bleeding
• Recurring infections
• Malformed tissues including bones⁶

The aim of treating LMs is to eliminate the malformation and resolved any associated symptoms or prevention thereof. The treatment for LMs depend on the lesions' location, type, and severity.

Scientists are currently researching curative medical therapy for LMs. Medications may include oral pills, topical cream, or injections.²

Embolization with sclerotherapy is the least invasive and the gold-standard treatment indicated for lymphatic malformations. It is a non-surgical intervention carried out by our skilled Vascular and Interventional Radiologist (IR). Our specialist will insert a tiny needle like an IV into the lymphatic malformation. Different chemicals can be used for this procedure but typically a dilute antibiotic is injected into the malformation. The solution causes the LM to shrink. ^2,4  The treatment is performed in an outpatient setting and takes about 30-45 minutes.

Sclerotherapy is a non-invasive and safe procedure. You might need several sclerotherapy sessions to get the best results. Sessions are usually four to six weeks apart. After the treatment, you can experience some mild discomfort at the treatment site while the malformations close. Patients may be prescribed a 5-to-7-day course of anti-inflammatory medication.

Surgery is often the last resort and recommended for patients with larger LMs that are inaccessible for sclerotherapy. The surgeon may also remove any excess mass or lump, extra skin, and remove any leftover marks on the skin. Some patients may be proposed surgery after having failed sclerotherapy.^1,2

Other procedures for treating LM include:

• Radiofrequency ablation – using highly focused radiation waves to destroy the lymphatic tissue
• Laser therapy
• Cryoablation or freezing therapy^1,2,5

LMs are benign cystic masses, so they generally have good outcomes, i.e., they don’t cause debilitating problems. Simple LMs with larger cysts have better treatment outcomes and are ideally suited for sclerotherapy. However, mixed LMs or micro-cystic (small cysts) masses are hard to treat non-surgically and need further therapy. You might need several sessions as LMs tend to recur even after surgical treatment.^2,7

According to 2020 meta-analysis, on average 50.5% of the patients had a complete cure after undergoing sclerotherapy with any agent. Patients with macrocystic (large-sized cysts) lesions had a cure rate of 53.1 % while the patients with microcystic lesions had a cure rate of 35.1%. Lastly, mixed lesions were seen to be cured in 31.1% patients.⁸

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1. Lymphatic Malformations – NORD (National Organization for Rare Disorders). Accessed March 16, 2022. https://rarediseases.org/rare-diseases/lymphatic-malformations/
2. Lymphatic Malformation | Johns Hopkins Medicine. Accessed March 16, 2022. https://www.hopkinsmedicine.org/health/conditions-and-diseases/lymphatic-malformation
3. Ozdowski L, Gupta V. Physiology, Lymphatic System. StatPearls. Published online May 9, 2021. Accessed March 16, 2022. https://www.ncbi.nlm.nih.gov/books/NBK557833/
4. Lymphatic malformations | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. Accessed March 16, 2022. https://rarediseases.info.nih.gov/diseases/9789/lymphatic-malformations#ref_8017
5. Lymphatic malformation (lymphangioma, cystic hygroma, lymphangioma circumscriptum) | DermNet NZ. Accessed March 16, 2022. https://dermnetnz.org/topics/lymphatic-malformation
6. Lymphatic Malformations in Children. Accessed March 16, 2022. https://www.stanfordchildrens.org/en/topic/default?id=lymphaticmalformationsinchildren-90-P02045
7. Bouwman FCM, Kooijman SS, Verhoeven BH, et al. Lymphatic malformations in children: treatment outcomes of sclerotherapy in a large cohort. European Journal of Pediatrics. 2021;180(3):959. doi:10.1007/S00431-020-03811-4
8. de Maria L, de Sanctis P, Balakrishnan K, Tollefson M, Brinjikji W. Sclerotherapy for lymphatic malformations of head and neck: Systematic review and meta-analysis. J Vasc Surg Venous Lymphat Disord. 2020;8(1):154-164. doi:10.1016/J.JVSV.2019.09.007

The above information explains what is involved and the possible risks. It is not meant to be a substitute for informed discussion between you and your doctor, but can act as a starting point for such a discussion.