Researchers expand the known clinical spectrum of Loeys-Dietz Syndrome

A new study led by third-year medical student Christopher Bennett is the first to describe the development of massive hemoptysis in patients with Loeys-Dietz syndrome. The finding has immediate and broad clinical implications that will be useful for both patients and providers.

Loeys-Dietz syndrome (LDS) is a rare connective tissue disorder that results in altered cardiovascular, craniofacial, and skeletal development.  There are four known types of LDS, attributed to mutations in four genes. The mutations are associated with alterations in a signaling pathway that is important for proper growth and development and also plays a critical role in bone and blood vessel development. Like other connective tissue disorders, one of the defining characteristics of LDS is significantly weakened and altered vasculature that predisposes affected individuals to arterial bulging and tearing.

LDS was first described in 2005 by Hal Dietz, MD, and Bart Loeys, MD, at Johns Hopkins University. As a part of a Howard Hughes Medical Institute Research Fellowship, Bennett worked in Dietz’ lab and the resulting report, published in the American Journal of Medical Genetics, expands the known clinical spectrum of LDS to include massive hemoptysis. Massive hemoptysis is a rare, often fatal condition in which patients suffer sudden and severe coughing up of blood which can lead to exsanguination and asphyxiation.

Although a rare manifestation, Dietz said the report will hopefully lead to other researchers and physicians to share their observations and hopefully continue refining the diagnostic and management best practices for LDS.  

Additional study authors include Dr. Hamza Aziz at Duke University, Elizabeth Sparks and Gretchen MacCarrick at Johns Hopkins University, and Drs. Trushil Shah and Mark Yoder at Rush University.