What Causes Lymphatic Malformations?
Lymphatic malformations are clusters of enlarged and / or misshaped lymphatic channels that do not work correctly. The lymphatic system consists of organs (spleen, thymus, tonsils and adenoids), lymph nodes and thin tubes (lymphatic channels) that carry lymphatic fluid. The lymphatic system is an important part of the immune system. It also helps remove extra fluid from the tissues of the body.
In lymphatic malformations, movement of lymphatic fluid into is slow or decreased. This causes extra fluid to collect and to enlarge the lymphatic channels. This causes swelling and cysts (pockets of fluid) in the affected area.
Lymphatic malformations form prior to birth. They are caused by problems in the formation and development of the lymphatic vessels. Lymphatic malformations are not caused by any drug, medication or environmental exposure during the pregnancy. Most lymphatic malformations are identified at birth or in early childhood. Some may not be noticed until the teenage years or early adulthood if small or located inside the body.
Lymphatic malformations may involve any part of the body. They are most common in the head and neck. They can involve multiple body areas. Symptoms and complications vary and depend on the size and the location(s) of the malformation.
Lymphatic malformations were previously called lymphangiomas or cystic hygromas.
What do lymphatic malformations look like?
Lymphatic malformations have variable appearances. Depending on the size of the abnormal lymphatic channels, they are considered macrocystic, microcystic or a combination of both.
Macrocystic lymphatic malformations are large fluid-filled cysts that look like soft, smooth masses under normal or blue-colored skin.
The microcystic type are sponge-like and look like an area of swelling. Microcytic lymphatic malformations may also have fluid-filled vesicles (lymphatic blebs) over the lesion. Lymphatic blebs are small, raised skin lesions containing clear lymphatic fluid. Blebs typically look like blisters or blood blisters. They may also become dark purple or black when blood oozes into the blebs.
Overgrowth or enlargement of body part (e.g., lip, cheek, ear, tongue, limb, finger, or toe) may also occur in individuals with lymphatic malformations. Some lymphatic malformations are inside the body and cannot be seen without specialized imaging.
How are lymphatic malformations diagnosed?
Medical history and physical examination are used to diagnose a lymphatic malformation.
Radiologic imaging such as ultrasonography, magnetic resonance imaging (MRI), or computed tomography (CT or CAT scan) may be needed to confirm diagnosis or to see the extent of the malformation.
What are the possible complications of a lymphatic malformation?
Infection of the skin or soft tissues (cellulitis) may occur around the malformation. This typically happens when bacteria enter the body through the lymphatic blebs. Cellulitis could lead to a more serious or life-threatening infection. Immediate treatment with antibiotics is required to treat these infections. Individuals with lymphatic malformations in the head and neck area, especially those involving the mouth, can get frequent and serious infections. This happens when bacteria from the mouth get into the malformation. Good oral hygiene decreases these infections. Regular tooth brushing and visits to the dentist are recommended.
Bleeding into the area of the malformation may cause pain and swelling. This may occur from trauma to the area or without reason. The blebs on the skin may bleed or leak lymphatic fluid. Chronic pain and deformity may also occur.
Additional complications may be possible, such as:
- A malformation involving the windpipe, tongue or chest can cause issues with breathing, eating / drinking, and speech.
- A malformation in the stomach and intestines can cause chronic diarrhea and loss of important proteins.
- A malformation in the chest can cause fluid buildup in the lungs (pleural effusion) or around the heart (pericardial effusion). This can cause heart and breathing complications.
- A malformation in the abdomen can cause fluid buildup inside the abdomen (ascites). Malformations in the abdomen can also cause urinary or bowel issues. This is a leakage of lymphatic fluid into the abdomen.
Complex Lymphatic Malformations
Generalized lymphatic anomaly (GLA) and Gorham-Stout disease (GSD) are rare complicated lymphatic malformations that involve multiple body sites. The areas most affected include: the bones, chest, skin, spleen, and liver. In both GLA and GSD, the lymphatic malformations involve the bones but look different on imaging. The lymphatic malformations in GSD destroy the outer layer of the bone (cortex) and cause bone loss. In GLA, the lymphatic malformations cause “punched out” lesions or holes in the bones. These bony lesions may result in fractures in both GSD and GLA.
Patients with GLA and GSD have an increased risk of lymphatic fluid leaking into the lungs (pleural effusion), abdomen (ascites) or around the heart (pericardial effusion). Patients with GLA and GSD may have other complications.
Kaposiform lymphangiomatosis (KLA) is a vert rare disorder that is aggressive and can be life-threatening. Like GLA, lymphatic malformations involve multiple body sites but KLA has unusual “kaposiform” lymphatic clusters. Like GLA, lymphatic malformations involve multiple body sites but KLA has unusual “kaposiform” lymphatic clusters. Individuals with KLA often have effusions, bone lesions and involvement of one or more organ. It is associated with coagulopathy (clotting and bleeding issues). Complications are related to the extent of the organ involvement and severity of the blood issues.
Treatment and Management
Should my child receive treatment for a lymphatic malformation?
Individuals with lymphatic malformations should be evaluated by a doctor or a team of specialists with experience in the management of these conditions. Treatment recommendations differ for each patient.
How are lymphatic malformations managed?
There is no “cure” for lymphatic malformations. Most lymphatic malformations cannot be completely removed by surgery. Management depends on the depth, location, and amount of the malformation. There are a variety of treatments.
Treatment options include:
- Observation
- Compression therapy. This involves wearing a tight-fitting garment on the affected body part to prevent pain or growth of the malformation.
- Sclerotherapy. This procedure involves injecting a medication into the malformation to decrease pain and / or shrink bulky areas.
- Drug Therapy. Medication therapy may be used to treat various symptoms and complications of lymphatic malformations.
- Topical sirolimus: This medication is an ointment, cream, or gel. It is applied on lymphatic blebs.
- Oral sirolimus: This medication is taken by mouth. Oral sirolimus is used to help manage large or complicated malformations.
- Zoledronic acid (Zometa): This medication is given as an intravenous (IV) medication. Zometa is used to treat problematic bony lesions.
- Investigational medications are currently being studied in research trials.
- Surgical excision. Some small lesions may be completely surgically removed. Surgery may be performed to remove extra or overgrown tissue.
- Laser therapy. This procedure uses special light beams to treat bleeding or leaking lymphatic blebs.
- Orthopedic procedures. Surgery may be needed to address issues of bone overgrowth.
Are there any risks associated with treatment?
Each of these treatment options has potential side effects:
- Sclerotherapy. Blistering, scarring, infection, numbness or tissue loss may occur. Some malformations may need to be treated multiple times.
- Drug therapy. Medication therapy may be used to treat various symptoms and complications of lymphatic malformations.
- Topical sirolimus: There is a small risk of systemic absorption, particularly if not used as directed.
- Oral sirolimus: Before starting, your doctor will review all side effects of this medication.
- Zoledronic acid (Zometa): Before starting, your doctor will review side effects of this medication.
- Surgical excision. Some scarring is expected with surgical removal of the malformation. Surgery may cause damage to nearby structures such as nerves, normal blood vessels, and muscle. Malformation that was not removed may get larger over time.
- Laser therapy. Scarring or changes in skin pigmentation could potentially occur.
