The Lymphatic Malformation Network is a positive support network for individuals and families effected by Macrocystic and Microcystic Lymphatic Malformations. Members of this group are encouraged to share information and ask questions. I have set up folders to help get you started but, please feel free to add more, as needed. To view all folders click the words VIEW ALL in the top right hand corner of the folder section. If you are looking for feedback from the group I would suggest posting under folders and not bulletins. Please understand members are sharing their personal experiences and information based on their individual research efforts, they are not physicians. You should always consult with a physician and educate yourself when making decision about your medical care.
*We have a friendship page for Lymphatic Malformations and the Group Leader blogs about her experience living as an adult with Lymphatic Malformation. To view these blogs and become part of the friendship page please click on the Group Leaders picture above and request friendship.
What is a Lymphatic Malformation (LM)?
Lymphatic Malformations (LM) are benign sponge-like collections of abnormal channels and spaces that contain clear fluid. Lymphatic vessels are small canals that lie near blood vessels. The lymphatic system normally collects excess fluid from the tissues and transports it through a series of small vessels to the lymph nodes and back to the bloodstream. With a lymphatic malformation, however, transfer of this fluid through these vessels is slowed. The excess fluid accumulates and dilates the vessels, resulting in a swelling of the affected area and sometimes in more extensive enlargement of soft tissues and bones. Some lymphatic malformations can spread into surrounding tissues and affect the proper development of the area. The brain cannot be effected because it lacks lymphatics. Lymphatic malformations may also enlarge and become infected following an upper respiratory infection. Over half of lymphatic malformations are congenital (present at birth), and most are detected by age 2. Lymphatic malformations are sometimes seen in children with certain chromosome abnormalities and genetic conditions, including Down Syndrome, Edwards Syndrome, Noonan’s Syndrome and Turner Syndrome. It is also, associated with Hydrops Fetalis. The incidence in babies is unknown, although, they are not uncommon. Mortality rates are unknown however, there are adults living successful lives with LM.
There are 2 major forms of LM, mircocystic and macrocystic. Older terms for macrocystic LM are cystic hygroma (CH) and microcystic LM are lymphangioma. The term Lymphangiomatosis is sometimes used to describe Lymphatic Malformations effecting multiple body systems. Lesions may be superficial or deep, and localized or diffuse. They steadily increase in size, although some enlarge more rapidly than others. Conditions such as infection or trauma can result in sudden but temporary enlargement. Lymphedema (swelling of a limb) is also a form of LM.
What are other terms associated with LM?
Macrocystic LM or Cystic Hygroma (CH): A large cyst or pocket of lymphatic fluid that results from blocked lymphatic vessels. A cystic hygroma may contain multiple cysts connected to each other by the lymphatic vessels. Approximately 80% of CH occur in the neck with the remaining 20% in the axilla (armpit) or groin. However, they can involve any area of the body. CH is more common in some congenital disorders including Turner Syndrome, Edwards Syndrome, Noonan’s Syndrome, Down Syndrome and Fetal Alcohol Syndrome. It is also, associated with Hydrops Fetalis. Because of this, often physicians have been know to recommend termination. It may be advisable for babies with this type of lymphatic malformation to have chromosomal analysis performed before considering such recommendations. People can live to be adults with CH often, limited information, research and knowledge prevent people from realizing before making this critical decisions.
Microcystic LM or Lymphangioma: These are classified into two groups.
Lymphangioma Circumscriptum and Cavernous Lymphangioma.
Lymphangioma Circumscriptum: A group of lymphatic vessels that form a mass or lump. It appears as a cluster of small firm blisters filled with lymph fluid, resembling frogspawn. These range in color from clear to pink, dark red, purple, brown or black and may become warty, especially when affecting a palm or sole. The patches may become more prominent at puberty and may ooze or bleed. Occasionally they become infected. Lymphangioma circumscriptum is most commonly found on the shoulders, neck, underarm area, limbs, cheek, around the ear and in the mouth, especially the tongue. They may also present in the bones and skin as well as other parts of the body.
Cavernous lymphangioma: Cavernous lymphangioma can affect any site on the body, including the tongue. It presents as a skin colored, red or bluish rubbery swelling under the skin. Sometimes it has a period of fast growth in early childhood. Rarely, it may ulcerate. It is distinguished from other vascular naevi by the presence of clear fluid within the lumps and the findings on ultrasound scan.
Lymphangiectasia: Lymphangiectasias (also called ‘lymphangiectases’ and ‘acquired lymphangioma’) may rarely occur after injury to the lymphatic vessels. It is most often due to surgery several years earlier for cancer when lymph glands have been removed. The result is a collection of fluid-filled bumps that may ooze clear or milky fluid after minor injury. They can be painful and may be complicated by infection (cellulitis) Lymphangiectasia may affect the following sites:
The armpits after a radical mastectomy
The vulva after surgery or radiotherapy to cervical cancer
The penis and scrotum after removal of a tumor at the base of the spine
Gorham Syndrome or Disease (also called Gorham-Stout syndrome or vanishing bone syndrome): Is a type of lymphatic malformation that involves the bone and surrounding soft tissues. It can be serious, causing significant bone loss and other complications. Lymphangioma of the bones is often misdiagnosed as Gorhams which is often associated with the abnormal swelling of the blood vessels (angiomatosis).
Milroy Disease: Is an inherited lymphedema that is present at birth. It is characterized by lymphedema, a generalized swelling (usually in the lower limbs) due to trapped tissue fluid (lymph). The skin of the involved limbs of infants with Milroy disease may appear pink, but this discoloration is not due to malformed capillaries. The lymph nodes of individuals with Milroy disease show fibrosis, a proliferation of fibrous connective tissue. Mutations in the gene for VEGFR3 cause this inheritable disorder.
What causes microcystic and macrocystic LM?
The exact cause of LM is unknown, they are thought to be caused by errors in the formation and development of blood vessels during fetal development (Before 5 to 6 weeks of embryonic life.). Lymphatic channels sprout from veins in early embryonic life. Protein-rich fluid normally filters out of blood-filled capillaries into tissues throughout the body. The lymphatic system serves to transport this fluid back into the venous system. The cause is not related to any known food, drug or medication that may have been taken during pregnancy or to any activity or environmental exposure that may have occurred during that time.
What do microcystic and macrocystic LM look like?
LM typically lies within and just beneath the skin, although they can also occur in other organs and in bones. They most commonly occur in the neck and axilla (armpit), but can occur in most any location, including deep within the body. LM presents as localized swelling and sometimes more extensive enlargement of soft tissues and bones. Although lymph is a clear fluid, lymphatic malformations often appear red or blue because of the involvement of adjacent blood vessels. LM in the superficial skin presents as tiny clear bubbles (vesicles) that often become dark red and purple due to bleeding (hemorrhaging). LM is a common basis for enlargement of any structure (ie: lip, cheek, ear, tongue, limb, finger, or toe). Generalized swelling due to trapped tissue fluid, called lymphedema, can also be caused by a type of LM.
Can microcystic and macrocystic LM be prevented?
No, but complications can be diminished. LM often swells when the patient has a viral or bacterial infection anywhere in the body or from trauma. Infection in a LM of the head or neck region is less likely if the patient practices strict oral hygiene (ie: teeth brushing and frequent cleaning by a dental hygienist.) Children must be treated promptly for middle-ear infections. If repeated infection in an LM occurs, preventive antibiotic therapy may be indicated and consideration may be given to sclerotherapy (direct injection of an irritation solution) and/or surgical excision.
What are the possible complications of microcystic and macrocystic LMs?
The two major acute complications are infection and bleeding into the LM. When the neck is involved infection can become life threatening. Spontaneous lymphatic leakage from the skin commonly occurs. As well as being troublesome, this can lead to or be associated with cellulitis (infection of tissue in and beneath the skin). Recurrent cellulitis, which causes pain and cosmetic disfigurement, can also occur and may lead to serious infection. Bacteria may readily enter through open vesicles and quickly spread through tissues affected by these lesions. When this occurs, aggressive antibiotic therapy is essential. Another major complication is bleeding into the lymphatic malformation. This may cause pain and swelling in the area of the malformation. Another long-term complication is overgrowth of involved tissues and bones. LM near the windpipe (trachea) can cause difficulty breathing and eating difficulties may result from LM near the esophagus while LM in the gastrointestinal tract can cause protein loss and blood in the stool. LM of the thorax can cause leakage of lymphatic fluid into the chest cavity (chylothorax) and cardiac as well as pulmonary (lung) complications. LM of the abdomen can cause leakage of lymphatic fluid into the abdomen (chylous ascites).
How are microcystic and macrocystic LM diagnosed?
During pregnancy, a fetal ultrasound may detect some large lymphatic malformations. Ultrasound is a diagnostic tool used to evaluate organs and structures inside the body with high-frequency sound waves. Diagnosis after birth, may be determined by medical history and physical examination. Because LM can be confused with a venous (ie: Hemangioma) or bone (ie:Gorhams Disease) anomaly. CAT Scan (CT) or Magnetic resonance imaging (MRI) with contrast enhancement is used to confirm the diagnosis and determine the extent of the lymphatic abnormality.
How are microcystic and macrocystic LM treated?
Treatment may include observation of the malformation (to watch for growth or changes), antibiotic medications (to treat infection), incision and drainage of the lesion, surgery (to remove the lymphatic malformation), electrosurgery, laser therapy, cryotherapy, dermabraison or by laser (for lesions on the skin), radio frequency ablation (a new method) and sclerotherapy (injection of an irritating agent like OK-432). Sometimes in very extensive life threatening cases that are unresectable, chemotherapeutic agents are used. Surgical resection or sclerotherapy are the therapies of choice when the mass is localized. Complete surgical resection may prove technically difficult when there is diffuse involvement, because of the infiltrative nature of the disease, resulting in recurrence and return of symptoms. The standard for sclerotherapy in a mixed macrocystic and microcystic LM is a macrocystic mass of 50% or greater. Therapy should be aimed to decrease the symptoms that arise from compressive effects, to control chylous effusions, and to maintain optimal cosmesis. In patients with widespread disease, palliation is the goal of therapy. In some patients who have had GI bleeding associated with LM intravenous hyperalimentation has been used in the hospital and at home parenteral nutrition (10) for ongoing care. A low fat, high protein diet with medium chain triglycerides has been suggested for people with LM because it helps to reduce the lymph flow. Serum immunoglobulin level monitoring is also, recommended.
Specific treatment of lymphatic malformation will be determined by your physician based on:
- Achild’s age, overall health, and medical history
- Extent of the condition
- Your tolerance for specific medications, procedures, or therapies
- Expectations for the course of the condition
- Your opinion or preference
What are the risks associated with treatment?
Despite the benefits, each of these management approaches has drawbacks and limitations:
Surgical Excision: This cannot be done without some scarring, and years after excision, lymphatic vesicles may become apparent again in or around a scar. Additionally, surgical excision may cause damage to structures involved with the lesion.
Sclerotherapy: This approach may result in superficial or deep tissue scarring. Also, in some cases, the lesion may not respond to treatment. In other cases, it may reappear.
Laser Therapy: This may result in some tissue scarring and/or changes in skin pigmentation. These can sometimes be improved by additional cosmetic procedures.
Radio Frequency Ablation: Minor bleeding and infection are the primary risks of this technique.
What research is being done on LMs?
Studies on genetic mechanisms are just beginning. A vascular endothelial growth factor receptor (VEGFr3) that is specific for lymphatics has been identified. Three genes associated with inherited lymphedema (generalized swelling due to lymphatic abnormality) have been identified. Animal models simulating lymphedema are currently being studied. More research of the lymphatic system and lymphatic malformations are necessary to offer better care, knowledge and management. Case reports and medical evidence need to be compiled to clarify the many terms, to create a best practice and to organize clinics to offer overall care and consultation for adult and pediatric patients living with lymphatic malformations.
* Most of this information was found here and was provided to help LM patients: http://www.childrenshospital.org/az/Site1256/mainpageS1256P0.html
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