New guidelines for diagnosis of Marfan and Loey-Dietz syndromes
✍ Scribed by Deborah Levenson
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 136 KB
- Volume
- 152A
- Category
- Article
- ISSN
- 1552-4825
No coin nor oath required. For personal study only.
✦ Synopsis
R ecognizing and dis- tinguishing potentially life-threatening Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS) is often difficult, but 3 new papers may ease the process and steer patients to appropriate treatment.
MFS is caused by a mutation in the gene that expresses the protein fibrillin-1, which is important to connective tissue, while LDS results from a defect in either of 2 genes for the transforming growth factorβ receptor. A MFS mutation also results in hyperactive TGF-β signaling and patients with both conditions can have craniofacial abnormalities and serious cardiovascular complications, especially aortic aneurysms and dissections. These can occur throughout life, including early childhood, so it is important that monitoring and proper treatment begin as soon as possible A revised Ghent nosology published in the Journal of Medical Genetics [Loeys, et al., 2010] provides a point system for diagnosing or ruling out MFS through accumulation of points for various features. Meanwhile, authors of 2 separate studies in the August issue of the Journal of Bone and Joint Surgery [Sponseller PD, et al., 2010] [Erkula G, et al., 2010] alert orthopedic surgeons to symptoms specific to MFS and LDS.
Alerting Orthopedic Surgeons
Confusion over the cardiac problems of MFS and LDS led to the papers published
NEW GUIDELINES FOR DIAGNOSIS OF MARFAN AND LOEY-DIETZ SYNDROMES
Recent papers clarify issues, steer patients to appropriate treatment