AI Article Synopsis
- Vascular Ehlers-Danlos syndrome (vEDS) is a rare genetic disorder caused by mutations in a specific gene, leading to severe health issues.
- Timely and accurate diagnosis is crucial for improving patient outcomes through targeted treatments, but the disease's variability makes diagnosis challenging.
- A reported case highlights a patient with a new genetic variant who experienced severe complications, including aneurysms and ultimately died from pulmonary bleeding at 26 due to delayed genetic evaluation.
Article Abstract
Vascular Ehlers-Danlos syndrome (vEDS) is a genetic disease caused by a pathogenic mutation in the gene. Despite its severe course, the rarity and extreme clinical variability of the disease can pose significant obstacles to a timely diagnosis. Early and accurate diagnosis may lead to improved patient outcomes by providing access to targeted pharmacological treatments like celiprolol and enhancing the management of vEDS-related complications. Herein, we report a patient harboring a novel missense variant, in which the diagnosis was only possible belatedly due to delayed referral for genetic evaluation. The patient developed pulmonary complications, aneurysms, and vascular malformations, and died at the age of 26 years due to massive pulmonary bleeding.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10315819 | PMC |
| http://dx.doi.org/10.3389/fcvm.2023.1110392 | DOI Listing |
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