Macrocystic lymphatic malformation (MLM) is a rare congenital disorder that affects the lymphatic system. It is characterized by the abnormal growth of lymphatic vessels, which results in the formation of cystic lesions filled with lymphatic fluid. These cystic lesions can be localized or diffuse, and can occur in various parts of the body, including the neck, armpit, chest, abdomen, pelvis, and extremities. MLM is also known by several other names, including lymphangioma, cystic hygroma, and lymphatic cyst.
Types
There are several different types of MLM, which are classified based on their size, location, and histological characteristics. The most common classification system for MLM is the one proposed by the International Society for the Study of Vascular Anomalies (ISSVA), which divides MLM into four categories: macro cystic, microcystic, mixed, and infiltrating.
- Macrocystic Lymphatic Malformation (MLM)
Macrocystic lymphatic malformation (MLM) is the most common type of MLM, accounting for approximately 90% of cases. It is characterized by the presence of large, fluid-filled cysts that are lined by lymphatic endothelium. These cysts can range in size from a few millimeters to several centimeters and can be solitary or multiple. Macrocystic MLM is often located in the neck or axilla, but can also occur in other areas of the body.
- Microcystic Lymphatic Malformation (MLM)
Microcystic lymphatic malformation (MLM) is a less common type of MLM, accounting for approximately 10% of cases. It is characterized by the presence of small, fluid-filled cysts that are lined by lymphatic endothelium. These cysts are usually less than 1 centimeter in size and can be diffuse or localized. Microcystic MLM is often located in the tongue, cheek, or lip.
- Mixed Lymphatic Malformation (MLM)
Mixed lymphatic malformation (MLM) is a type of MLM that contains both macro cystic and microcystic components. This type of MLM is often located in the neck or axilla but can occur in other areas of the body.
- Infiltrating Lymphatic Malformation (MLM)
Infiltrating lymphatic malformation (MLM) is the rarest type of MLM, accounting for less than 5% of cases. It is characterized by the infiltration of lymphatic vessels into surrounding tissue, resulting in the formation of diffuse lesions. Infiltrating MLM can occur in any part of the body, but is most commonly located in the head and neck region.
Causes
This condition can occur anywhere in the body, but it is most commonly found in the neck and head region. In this article, we will discuss the most common causes of macrocystic lymphatic malformation.
- Genetic factors: Genetic factors can play a significant role in the development of macrocystic lymphatic malformation. Mutations in certain genes can cause abnormalities in lymphatic vessel formation, leading to the formation of cystic spaces.
- Environmental factors: Exposure to certain environmental factors, such as chemicals, radiation, or infections, during fetal development can also contribute to the development of macrocystic lymphatic malformation.
- Infection: Infections during fetal development, such as rubella, can lead to the development of macrocystic lymphatic malformation.
- Fetal alcohol syndrome: Fetal alcohol syndrome can also increase the risk of developing macrocystic lymphatic malformation.
- Maternal drug use: Certain drugs used by pregnant women, such as thalidomide, can increase the risk of microcystic lymphatic malformation in their offspring.
- Maternal illness: Maternal illness, such as diabetes, can also increase the risk of microcystic lymphatic malformation.
- Maternal age: Older maternal age can increase the risk of microcystic lymphatic malformation in offspring.
- Gender: Macrocystic lymphatic malformation is more commonly found in females than males.
- Chromosomal abnormalities: Certain chromosomal abnormalities, such as Turner syndrome, can increase the risk of macrocystic lymphatic malformation.
- Abnormal lymphatic vessel development: Abnormal development of lymphatic vessels during fetal development can cause the formation of cystic spaces, leading to macrocytic lymphatic malformation.
- Abnormal lymphatic valve development: Abnormal development of lymphatic valves can also contribute to the formation of cystic spaces, leading to microcystic lymphatic malformation.
- Abnormal lymphatic vessel function: Abnormal lymphatic vessel function can cause the accumulation of lymphatic fluid, leading to the formation of cystic spaces and macrocystic lymphatic malformation.
- Trauma: Trauma to the lymphatic vessels can cause damage, leading to the development of microcystic lymphatic malformation.
- Surgical intervention: Surgery in the neck or head region can disrupt lymphatic vessels, leading to the development of microcystic lymphatic malformation.
- Lymphatic obstruction: Obstruction of lymphatic vessels can cause the accumulation of lymphatic fluid, leading to the formation of cystic spaces and microcystic lymphatic malformation.
- Lymphatic leak: A leak in the lymphatic vessels can cause the accumulation of lymphatic fluid, leading to the formation of cystic spaces and microcystic lymphatic malformation.
- Immune system dysfunction: Dysfunction of the immune system can cause the accumulation of lymphatic fluid, leading to the formation of cystic spaces and macrocystic lymphatic malformation.
- Cancer: Cancer can cause the obstruction or damage of lymphatic vessels, leading to the development of microcystic lymphatic malformation.
- Congenital heart disease: Congenital heart disease can cause the accumulation of lymphatic fluid, leading to the formation of cystic spaces and macrocystic lymphatic malformation.
Symptoms
This condition can affect various parts of the body, including the neck, armpit, chest, abdomen, and groin. MLM can present with a wide range of symptoms, and the severity of these symptoms can vary greatly from person to person.
Here are common symptoms associated with MLM, along with a detailed explanation of each:
- Swelling: One of the most common symptoms of MLM is swelling in the affected area. This swelling can be caused by the accumulation of fluid within the cysts that form in the lymphatic vessels. The swelling may be mild or severe, and it may be accompanied by pain or discomfort.
- Pain: Pain is another common symptom of MLM. The pain may be intermittent or constant and may be localized or diffuse. The intensity of the pain can vary from mild to severe, and it may be exacerbated by physical activity or changes in position.
- Redness: In some cases, the affected area may appear red or inflamed. This is usually due to inflammation caused by the accumulation of fluid in the cysts.
- Warmth: The affected area may feel warm to the touch due to the inflammation caused by the fluid buildup.
- Fatigue: Fatigue is a common symptom of MLM, as the body may have to work harder to compensate for the fluid buildup.
- Fever: A fever may be present in some cases of MLM, especially if there is an infection present.
- Difficulty breathing: If MLM affects the chest or neck, it may cause difficulty breathing, as the cysts may compress the airways.
- Difficulty swallowing: If MLM affects the neck or throat, it may cause difficulty swallowing, as the cysts may compress the esophagus.
- Hoarseness: Hoarseness is another symptom that may occur if MLM affects the neck or throat, as the cysts may compress the vocal cords.
- Cough: A persistent cough may be present in cases of MLM that affect the chest or neck, as the cysts may compress the airways.
- Shortness of breath: Shortness of breath is another symptom that may occur if MLM affects the chest or neck, as the cysts may compress the airways and make it difficult to breathe.
- Chest pain: Chest pain may be present in cases of MLM that affect the chest, as the cysts may compress the heart or lungs.
- Abdominal pain: Abdominal pain may be present in cases of MLM that affect the abdomen, as the cysts may compress the digestive organs.
- Nausea and vomiting: Nausea and vomiting may occur if MLM affects the abdomen and compresses the digestive organs.
- Diarrhea: Diarrhea may be present in cases of MLM that affect the abdomen, as the cysts may compress the digestive organs and cause bowel disturbances.
- Constipation: Constipation may be present in cases of MLM that affect the abdomen, as the cysts may compress the digestive organs and cause bowel disturbances.
- Difficulty urinating: Difficulty urinating may occur if MLM affects the groin area and compresses the urinary tract.
- Incontinence: Incontinence may occur if MLM affects the groin area and compresses the urinary tract.
- Skin changes: The skin over the affected area may appear discolored, thickened, or have a pebbled texture.
Diagnosis
Diagnostic tests and procedures that may be used to diagnose MLM, along with their details and significance.
- Physical examination: The first step in the diagnosis of MLM is a physical examination by a healthcare professional. The presence of a soft, cystic mass that is usually painless and non-tender is characteristic of MLM. The location of the mass and its size can also help determine the severity of the condition.
- Ultrasound: Ultrasound imaging uses sound waves to create images of internal structures in the body. It can be used to detect the presence and size of cystic masses and to determine whether they are solid or fluid-filled.
- MRI: Magnetic resonance imaging (MRI) uses a magnetic field and radio waves to create detailed images of internal structures in the body. It can provide more detailed information than ultrasound and can help determine the extent of the cystic masses.
- CT scan: A computed tomography (CT) scan uses X-rays and computer technology to create detailed images of internal structures in the body. It can provide information on the size and location of the cystic masses and can help detect any associated complications.
- Biopsy: A biopsy involves removing a small sample of tissue from the cystic mass and examining it under a microscope. It can help confirm the diagnosis of MLM and rule out other conditions.
- Fine-needle aspiration (FNA): FNA is a type of biopsy that involves using a thin needle to withdraw a small sample of fluid or tissue from the cystic mass. It can be used to help determine whether the mass is cystic or solid and can help identify any associated infections.
- Blood tests: Blood tests can help determine whether there is an infection or inflammation associated with the cystic masses. They can also be used to evaluate liver and kidney function, which may be affected by the presence of large cysts.
- Lymphoscintigraphy: Lymphoscintigraphy is a nuclear medicine imaging test that involves injecting a small amount of radioactive material into the lymphatic vessels. It can help identify the extent of the lymphatic malformation and determine whether it is localized or diffuse.
- Lymphangiography: Lymphangiography involves injecting a contrast dye into the lymphatic vessels and taking X-ray images of the lymphatic system. It can provide detailed information on the location and extent of the lymphatic malformation.
- Venous Doppler ultrasound: Venous Doppler ultrasound is an imaging test that uses sound waves to evaluate blood flow in the veins. It can be used to detect any venous abnormalities associated with the cystic masses.
- Arterial Doppler ultrasound: Arterial Doppler ultrasound is an imaging test that uses sound waves to evaluate blood flow in the arteries. It can be used to detect any arterial abnormalities associated with the cystic masses.
- Angiography: Angiography involves injecting a contrast dye into the arteries and taking X-ray images of the blood vessels. It can provide detailed information on the location and extent of any arterial abnormalities associated with the cystic masses.
- Endoscopic ultrasound: Endoscopic ultrasound involves inserting an endoscope into the body and using ultrasound to create images of internal structures. It can be used to evaluate the size and location of the cystic masses in the gastrointestinal tract.
- Bronchoscopy: Bronchoscopy involves inserting a flexible tube with a camera into the airways to visualize
Treatment
There is currently no cure for macrocystic lymphatic malformation, but there are several treatments that can help manage the symptoms and prevent complications. In this article, we will discuss 20 treatments for macrocystic lymphatic malformation and explain the details of each.
- Observation and Monitoring: In some cases, macrocystic lymphatic malformation may not require any treatment and may resolve on its own. In such cases, the doctor may advise observation and monitoring to keep track of any changes in the size or symptoms of the cysts.
- Aspiration and Injection of Sclerosing Agents: This is a minimally invasive procedure in which a needle is used to drain the fluid from the cysts, and a sclerosing agent (such as ethanol, doxycycline, or bleomycin) is injected to cause the cysts to shrink and collapse. This treatment can be repeated as needed to manage the symptoms.
- Surgery: Surgery may be necessary if the cysts are causing significant symptoms or if they are at risk of rupturing. The surgical procedure may involve removing the cysts or draining them and then removing the lining to prevent recurrence.
- Radiofrequency Ablation: This is a minimally invasive procedure in which a needle is inserted into the cysts, and radiofrequency energy is used to heat and destroy the cysts. This treatment is suitable for smaller cysts and can be repeated as needed.
- Laser Therapy: Laser therapy involves using a high-energy beam of light to destroy the cysts. This treatment is suitable for smaller cysts and may be used in combination with other treatments.
- Cryotherapy: Cryotherapy involves using extreme cold to freeze and destroy the cysts. This treatment is suitable for smaller cysts and may be used in combination with other treatments.
- Endoscopic Surgery: Endoscopic surgery involves using a thin, flexible tube with a camera and surgical instruments to remove or drain the cysts. This treatment is suitable for cysts that are located in hard-to-reach areas such as the throat or chest.
- Lymphaticovenular Anastomosis: This is a microsurgical procedure in which the lymphatic vessels are connected to the veins to improve the drainage of lymphatic fluid. This treatment is suitable for certain types of cysts and may require specialized training and equipment.
- Lymphatic Sclerosis with OK-432: OK-432 is a bacterial preparation that can be injected into the cysts to cause inflammation and scarring, which can lead to the shrinkage and collapse of the cysts. This treatment is suitable for certain types of cysts and may require multiple injections.
- Carbon Dioxide Laser: Carbon dioxide laser therapy involves using a laser beam to vaporize the cysts. This treatment is suitable for small, superficial cysts and may require multiple sessions.
- Photodynamic Therapy: Photodynamic therapy involves injecting a photosensitizing agent into the cysts and then using light to activate the agent, which causes the cysts to shrink and collapse. This treatment is suitable for certain types of cysts and may require specialized equipment.
- Electrocautery: Electrocautery involves using a high-frequency electrical current to destroy the cysts. This treatment is suitable for small, superficial cyst
