2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Complex Lymphatic Anomalies: Design of a Prospective Natural History Study

Pdf Summary

This article describes a prospective natural history study designed to evaluate lymphatic malformations, specifically complex lymphatic anomalies. The lymphatic system plays a crucial role in regulating fluid balance and supporting the immune system, but when it develops incorrectly, it can lead to vessel dilation or leakage. These disorders are rare and often lack molecular causes and treatments, resulting in misdiagnosis and poor outcomes.<br /><br />The study plans to enroll approximately 1200 participants with lymphatic or ill-defined vascular anomalies suspected to have a lymphatic component or individuals with genetic disorders that include a lymphatic component. Participants will complete questionnaires and medical history intakes from home and receive biannual consultations at the National Institutes of Health Clinical Center as needed. The data collected will help identify novel endpoints for future clinical trials and contribute to candidate gene research using zebrafish.<br /><br />The article includes figures that illustrate the anatomical organization of the lymphatic system, clinical presentations of lymphatic malformations, the exploratory objectives of the study, and the baseline and follow-up visits for participants. Additionally, the figures provide information about the primary and secondary objectives of the study and potential symptoms and complications of lymphatic malformations.<br /><br />The authors acknowledge their support from the Eunice Kennedy Shriver National Institute of Child Health and Human Development and thank Ethan Tyler and Eugene Bond for their contributions.<br /><br />Overall, this study aims to improve our understanding of lymphatic malformations, enhance diagnosis and treatment strategies, and ultimately improve patient outcomes.

Asset Subtitle

Presenting Author - Kristina M. Woodis, BS; Co-Author - Andrea I. Bowling, MSN, APRN, FNP-C; Co-Author - Erica Schindewolf, MS; Co-Author - Sarah E. Sheppard;

Meta Tag

Congenital Anomaly

Genotype-Phenotype Correlations

Malformation

Natural History

Phenotypic delineation of disorders

Sequencing

Co-Author Andrea I. Bowling, MSN, APRN, FNP-C

Co-Author Erica Schindewolf, MS

Co-Author Sarah E. Sheppard

Presenting Author Kristina M. Woodis, BS

Keywords

lymphatic malformations

complex lymphatic anomalies

lymphatic system

fluid balance

immune system

vessel dilation

leakage

rare disorders

misdiagnosis

prospective natural history study