FAQs

Vascular anomalies is a broad term for conditions caused by abnormal development of blood vessels, lymphatic vessels, or both. Lymphatic malformations (LMs) are one specific type of vascular anomaly that affect only the lymphatic system.

In short: vascular anomalies are the umbrella category; lymphatic malformations are one type within it."

Vascular anomaly centers bring together specialists from multiple medical fields who have expertise in LMs and their treatments, providing comprehensive, coordinated care for patients with a wide range of vascular anomalies.

We can reach out to our network to help identify a physician or specialist who may be able to provide care — an access challenge shared by many rare disease communities.

Most LMs are caused by genetic changes that happen after conception and are not inherited. In a small number of cases — the genetic change is present from birth and may run in families.

It's know, from clinical observations, that triggers such as trauma, illness, infection, and hormones changes during puberty and pregnancy can increase disease activity know as "flares". More reserach is needed to learn about triggers and why there is so much variability between individual patients.

Some reasons for the pain are known, but not all. Pain can result from the diseases' interaction with bone, skin, and/or organs. Triggers such as infection, trauma, and/ or changes in hormones can increase pain. Inflammations is thought to drive these pain increases.

Appropriateness of vaccines should be disucssed with your doctor. It is recommended that LM patients receive routine vaccines including the seasonal flu vaccine. You should discuss the appropriateness of live vaccines with your doctor as there are specific situations where they should not be given.

There are no published reports to suggest that vaccination could trigger disease activity.

A low-fat diet reduces chyle effusion by minimizing the intake of long-chain triglycerides (LCTs), which are absorbed through the lymphatic system, thereby lowering the volume and flow of chyle produced in the body. The diet serves as a conservative management strategy to stop the accumulation of fluid in the chest or abdominal cavity, often avoiding the need for surgical intervention. Unlike long-chain fats, medium chain triglycerides (MCTs) are absorbed directly into the bloodstream instead of the lymph vessels. Using MCT oil allows for adequate caloric intake without stimulating further lymph fluid production.

Some patients have reported side effects such as mouth sores, skin changes, diarrhea, changes in blood counts, and higher cholesterol levels. This is not a full list of possible side effects. For patient-friendly information, about any medication, visit MedlinePlus or talk with your care team or visit https://medlineplus.gov/druginfo/meds/a602026.html

There is no single recommendation that applies to everyone, so this decision should be discussed with your doctor. Some patients have weakened immune systems due to their condition, and immune function can vary from person to person and over time. Sirolimus can further suppress the immune system, which may increase the risk of infection. Bactrim is sometimes prescribed to help prevent a rare but serious lung infection called Pneumocystis jirovecii pneumonia (PJP). Some doctors recommend Bactrim for patients taking sirolimus, while others decide based on individual risk factors.

Genetic testing is not required for all patients with isloated or complex LMs. However, genetic testing may be recommended — when the diagnosis is unclear, symptoms are unusual or severe, or when results may help guide treatment decisions. Your care team can help determine whether genetic testing may be useful.

Most LMs are caused by somatic gene mutations that are found at highetst frequency in the LM and usually not detected in blood so testing is done on LM tissue. Because these mutations are not present in every cell, genetic testing can sometimes return a negative result even when LM tissue is tested. Testing of cell-free DNA from lymphatic fluid samples has been used successfuly to identify genetic changes but this approach is not widely available to all patients.

In most In many cases, taking a small tissue sample for diagnosis and/or genetic testing is considered safe. However, biopsy may carry higher risks in certain situations. Biopsy of the ribs should be avoided to reduce the risk of developing fluid collections (effusions) around the lungs. Although some believe that a bone biopsy can trigger disease progression especially in Gorham Stout Disease, there are limited reports to support this claim.

Surgery may be needed to reduce the size of a lymphatic cyst and relieve dangerous symptoms, such as pressure on nearby organs or the airway, as well as to improve pain, movement, or breathing, or to manage complications like infections or fluid buildup. Surgeons can only remove abnormal tissue that is visible and safe to take out, especially near vital structures, so remaining abnormal lymphatic vessels may refill with fluid and cause the malformation to return over time.

Transition planning should begin 2–3 years before a patient ages out of a children’s hospital. Most children’s hospitals do not provide care for adult patients, and finding adult providers and/or specialists can take time. Many primary care providers have waiting lists, which can add to the challenge. A vascular anomaly center may be able to help coordinate a transition plan and assist with referrals to adult providers.