Joining the Dots in Loeys-Dietz Syndrome

Capturing two decades of discovery and growing insight, a new handbook has been published for Loeys-Dietz syndrome, weaving together the many strands of this complex connective tissue disorder. Written by international experts, it takes a holistic, personalised approach to the condition and serves as an invaluable guide for both patients and clinicians. 

Since Loeys-Dietz syndrome was first described in 2005, medical understanding of the condition has evolved dramatically. Early guidance rightly prioritised the prevention of catastrophic aortic events, but a growing appreciation of the condition's complexity has led to a more holistic and personalised approach to care.

Recently published in Genetics in Medicine, this new handbook for clinicians reflects that changing understanding. It advocates a personalised, whole-person approach to care, recognising that treatment should be shaped not only by an individual's genetic variant and family history of aortic disease, but also by their symptoms, circumstances and personal priorities.

Written by leading international experts in Loeys-Dietz syndrome, the publication is an invaluable resource for both clinicians and patients. It is freely available to view and download here.