Overview

Background

The lymphatic system is a network of vessels that carry a clear fluid called lymph through the body. Problems in the lymphatic system can cause pain, fluid buildup, and issues with immunity. There is much researchers do not understand about lymphatic anomalies. In this natural history study, they will collect data from a lot of people over a long time.

Objective

To better understand why lymphatic anomalies develop. The goal is to improve future treatments.

Eligibility

People aged 0 days and older with a suspected or confirmed lymphatic anomaly. Their unaffected parents or siblings aged 7 years or older are also needed.

Design

Participants may remain in the study indefinitely. Affected participants may be evaluated every 10 months to 2 years. Some participants will be seen over telemedicine. Others will be seen at the NIH Clinical Center for 2-5 days.

All participants will have a physical exam. They may provide specimens including blood, saliva, hair follicles, stool, skin, and other tissues. Samples may be used for genetic testing.

Participants may undergo other tests depending on their medical conditions. The NIH Clinical Center visit may include:

Heart tests include placing stickers on the chest to measure electrical activity and using sound waves to capture pictures of the heart.

A lung test measures the muscle strength in the chest. Participants will blow into a tube.

Photographs may be taken of participants faces and other features.

Imaging scans will take pictures of the inside of the body. One scan will measure bone density.

One type of scan tracks how lymph fluid moves through the body. Participants will be under anesthesia, and they will be injected with a dye.

Eligibility

• INCLUSION CRITERIA:

Affected (Proband)

        In order to be eligible to participate in this study, an individual must meet one of the
        following criteria as determined after review of medical history:
          -  Current or history of lymphatic anomaly or symptoms suggestive of a lymphatic disorder
             Or
          -  An ill-defined vascular anomaly that is suspected to have an abnormal lymphatic
             component Or
          -  A pathogenic, likely pathogenic, or VUS in a genetic disorder with a known lymphatic
             component Or
          -  Clinical diagnosis of a syndrome with a known lymphatic component
        Unaffected (First Degree Relatives: Parents and Siblings)
        Genetic variants underlying complex lymphatic anomalies can be passed down through parents
        or be new in a child (de novo). Inclusion of first-degree relatives will assist in genetic
        analysis to delineate whether the variant is inherited or de novo.
        To be eligible to participate as a first degree relative in this study, an individual must
        be a first-degree family member of an affected participants
        EXCLUSION CRITERIA:
        Affected Proband
        An individual who meets any of the following criteria will be excluded from participation
        in this study after review of medical history, concomitant medication and allergy review,
        anthropometrics, and performance status:
          -  Any condition, in the opinion of the investigator, that would increase risk of
             participation or impair their ability to comply with protocol requirements.
          -  Lymphatic anomalies that are definitively determined to be secondary by the principal
             investigator will be excluded from this study. For example, participants who develop a
             lymphedema after breast cancer surgery.
        Unaffected (First Degree Relatives)
        -Any condition, in the opinion of the investigator, that would increase risk of
        participation or impair their ability to comply with protocol requirements.