Registry for Vascular Anomalies Associated With Coagulopathy

Study Overview
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Brief Summary
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PURPOSE The purpose of this study is to learn more about multifocal lymphangioendotheliomatosis with thrombocytopenia (MLT). MLT is a rare vascular disorder characterized by multiple congenital skin and visceral lesions, profound thrombocytopenia, and gastrointestinal bleeding. The skin lesions may appear red, brown or blue, often misdiagnosed as hemangiomas. The gastrointestinal tract, liver, and lungs are the most common internal organs involved. The severe thrombocytopenia (low platelets) is believed to be the result of platelet trapping within the skin and visceral vascular lesions. Severe and chronic gastrointestinal bleeding is common during infancy and early childhood. Although a relatively newly described entity, MLT was likely previously reported as hemangiomas, blue rubber bleb nevus syndrome, diffuse hemangiomatosis, Kasabach-Merritt phenomenon, and hereditary hemorrhagic telangiectasia. The term cutaneovisceral angiomatosis with thrombocytopenia is also a term used for this same disease. This study is a longitudinal cohort study of MLT to collect detailed clinical data on the distribution of disease, disease severity, and complications. This data will be used to create diagnostic criteria and an evaluation protocol for infants with this disease

Detailed Description
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After informed consent is obtained a detailed question will be mailed to participating patients and families. This questionnaire will also be available electronically through an educational website. Data collected will include photographs of skin lesions, video images of gastrointestinal lesions, demographic data, clinical information, therapeutic interventions, glass slides of tissue biopsies, and collection of DNA. Enrollment will be patient family driven and modeled after several successful registries of rare diseases.

Official Title
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International Registry for Vascular Anomalies Associated With Coagulopathy

Conditions
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Multifocal Lymphangioendotheliomatosis With Thrombocytopenia, Cutaneovisceral Angiomatosis With Thrombocytopenia, Vascular Anomaly With Thrombocytopenia, Hemangiomas

Intervention / Treatment
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* Other: no intervention


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Subjects with a vascular anomaly with coagulopathy Exclusion Criteria: Subjects without a vascular anomaly with coagulopathy
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Vascular Anomaly with Coagulopathy<br>All patients diagnosed with Multifocal lymphangioendotheliomatosis with thrombocytopenia (MLT) or with a vascular anomaly with coagulopathy | Other: no intervention<br>* no intervention - observational only<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Number of patients with genetic mutations, copy number variations and/or expression analysis | Expand knowledge on consensus diagnostic criteria, atypical presentations and long term outcomes of patients with vascular anomalies | After DNA collected and batches are sent for analysis | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Multifocal lymphangioendoltheliomatosis with thrombocytopenia, Cutaneovisceral angiomatosis with thrombocytopenia, Thrombocytopenia, Hemangiomas, Hemangiomatosis, Lymphatic malformation, Kasabach-Merritt, Blue-rubber bleb nevus, Angiomatosis