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Assessing the Hereditary Hemorrhagic Telangiectasia Algorithms in a Community-Based Patient Population.

07:00 EST 1st January 2019 | BioPortfolio

Summary of "Assessing the Hereditary Hemorrhagic Telangiectasia Algorithms in a Community-Based Patient Population."

Hereditary hemorrhagic telangiectasia (HHT) is a rare, genetic, and underdiagnosed disease that causes vascular malformations throughout the body. Two specific combinations of International Classification of Diseases, Ninth Revision-Clinical Modification diagnosis codes, the "HHT Algorithms" (HHTAs), were developed previously from a derivation cohort to help identify undiagnosed HHT cases.

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This article was published in the following journal.

Name: The Permanente journal
ISSN: 1552-5775
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Medical and Biotech [MESH] Definitions

An autosomal dominant vascular anomaly characterized by telangiectases of the skin and mucous membranes and by recurrent gastrointestinal bleeding. This disorder is caused by mutations of a gene (on chromosome 9q3) which encodes endoglin, a membrane glycoprotein that binds TRANSFORMING GROWTH FACTOR BETA.

A membrane glycoprotein and ANGIOGENESIS FACTOR that is expressed by cells of the VASCULAR ENDOTHELIUM; VASCULAR SMOOTH MUSCLE; and MONOCYTES. It functions as a co-receptor for TRANSFORMING GROWTH FACTOR BETA and modulates CELL ADHESION. Mutations in the endoglin gene are associated with cases of HEREDITARY HEMORRHAGIC TELANGIECTASIA.

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