Emergency Preparedness Booklet for Loeys-Dietz Syndrome Families

Emergencies can strike when least expected, especially for those living with or caring for someone with Loeys-Dietz syndrome (LDS). Understanding the unique challenges associated with this rare connective tissue disorder, we are thrilled to announce the release of a new, comprehensive Emergency Preparedness Booklet.

This resource is designed to empower individuals and families with essential tools, knowledge, and guidance to navigate potential medical emergencies. Whether you’re a patient, caregiver, or healthcare provider, this booklet offers invaluable insights to help you stay prepared.

What’s Inside?

The booklet covers a wide range of critical topics, thoughtfully curated to address the specific needs of the LDS community:

1. Emergency Signs and Symptoms

Recognizing the early warning signs of serious medical events can save lives. This section provides information about potential complications, including:

  • Hollow Organ Rupture
  • Ocular Detachment
  • Pneumothorax
  • Dissection
  • Sex-based differences in symptoms
  • Recurrent aneurysms

2. Other Urgent Situations

LDS often increases the risk of complications like fractures. Learn how to handle such situations effectively.

3. Vital Information for Medical Practitioners

Equipping healthcare providers with LDS-specific knowledge is key. This section highlights:

  • Medications that should not be prescribed
  • Diagnostic practices
  • Strategies for patient flagging

4. Emergency Preparedness

Step-by-step guidance for creating an emergency action plan, including how to call for help, gather vital medical information, and stay organized during crises.

5 & 6. Family-Centered Emergency Preparedness

Tailored advice for parents of school-aged children and adult children attending post-secondary education.

7. Wearable Medical Alert Devices

Explore options for medical alert systems, including universal IDs and electronic alert systems, to ensure critical medical details are always accessible.

8. Advanced Directives

A guide to creating advanced directives to ensure patient wishes are respected during emergencies.

9. Raising Awareness

Innovative tools like the Zebra Lanyard and Emergency Card to improve recognition and understanding of LDS by first responders and others.

10. Tips from Experts

Practical advice from doctors, nurses, patients, and first responders on navigating emergencies with clarity and composure.

Why This Booklet Matters

Living with Loeys-Dietz Syndrome presents unique challenges, especially when emergencies occur. This booklet is not only a guide but a lifeline to help families, caregivers, and medical professionals collaborate effectively during critical moments. While it doesn’t replace the relationship with a doctor, it arms readers with the essential knowledge to make informed decisions and advocate for appropriate care.

How to Access the Booklet

The free Emergency Preparedness Booklet is available here.

Download it, share it, and let it be a resource to empower your family and community.

We hope this booklet brings peace of mind and preparedness to all those affected by LDS.

Medical Disclaimer

The information provided here is meant to empower individuals to make informed decisions – it does not, however, replace a reader’s relationship with their doctor.

The information outlined in this booklet is for general use only. Please speak with a qualified healthcare professional before making medical decisions.

This resource has been researched, reviewed, and vetted by subject experts who have worked hard to ensure that the information provided is accurate and reliable; however, we cannot guarantee that it is error- free or complete.

Research for LDS is ongoing.

The Loeys-Dietz Syndrome Foundation Canada is not responsible for the quality of the information or services provided by organizations mentioned on loeysdietzcanada.org, nor do we endorse any service, product, treatment, or therapy.

 

Bevans, M., & Sternberg, E. M. (2012). Caregiving Burden, Stress, and Health Effects Among Family Caregivers of Adult Cancer Patients. JAMA, 307(4), 398–403. https://doi.org/10.1001/JAMA.2012.29

Bhattacharyya, R., Swergold, N., & Bethel, C. (2018). Congenital pericardioperitoneal hernia in a patient with Loeys-Dietz syndrome. Journal of Pediatric Surgery Case Reports, 32, 41–42. https://doi.org/10.1016/J.EPSC.2018.01.013

Boone, P. M., Scott, R. M., Marciniak, S. J., Henske, E. P., & Raby, B. A. (2019). The genetics of pneumothorax. American Journal of Respiratory and Critical Care Medicine, 199(11), 1344–1357. https://doi.org/10.1164/RCCM.201807-1212CI/SUPPL_FILE/DISCLOSURES.PDF

Borke, J. (2021, January 12). Collapsed Lung (Pneumothorax) . PennMedicine. https://www.pennmedicine.org/for-patients-and-visitors/patient-information/conditions-treated-a-to-z/collapsed-lung-pneumothorax

Caza, T. N., Mercedes, A., Stoppacher, R., & Catanese, C. A. (2016). A Complex Case of Loeys-Dietz Syndrome: A Case Report and Review of the Literature. Academic Forensic Pathology, 6(4), 731. https://doi.org/10.23907/2016.069

Christian, H. (2019). Stress Fractures in Loeys-Dietz Syndrome. International Archives of Orthopaedic Surgery, 2(1). https://doi.org/10.23937/2643-4016/1710008

Detached retina (retinal detachment) – NHS. (2020, December 16). National Health System. https://www.nhs.uk/conditions/detached-retina-retinal-detachment/

Erlinger, C. (2017, March 29). Heart Attack: Men vs. Women. The Heart Foundation. https://theheartfoundation.org/2017/03/29/heart-attack-men-vs-women/

(Fuhrhop et al., 2015)Fuhrhop, S. K., McElroy, M. J., Dietz, H. C., MacCarrick, G. L., & Sponseller, P. D. (2015). High Prevalence of Cervical Deformity and Instability Requires Surveillance in Loeys-Dietz Syndrome. The Journal of Bone and Joint Surgery. American Volume, 97(5), 411. https://doi.org/10.2106/JBJS.N.00680

Gastrointestinal Perforation. (2022, November 7). Cleveland Clinic. https://my.clevelandclinic.org/health/diseases/23478-gastrointestinal-perforation

Guerrerio, A. L., Mateja, A., Rasooly, M., Levin, S., Magnani, A., Dempsey, C., MacCarrick, G., Dietz, H. C., Brittain, E., Boyce, A. M., & Frischmeyer-Guerrerio, P. A. (2022). Predictors of low bone density and fracture risk in Loeys–Dietz syndrome. Genetics in Medicine, 24(2), 419–429. https://doi.org/10.1016/j.gim.2021.10.002

Heart Attack Symptoms in Women. (2015, July 31). American Heart Association. https://www.heart.org/en/health-topics/heart-attack/warning-signs-of-a-heart-attack/heart-attack-symptoms-in-women

How to prepare for an emergency room visit. (2022, May 17). HCA Florida Healthcare. https://www.hcafloridahealthcare.com/healthy-living/blog/how-to-prepare-for-an-emergency-room-visit

How to use FYI flags. (n.d.). Retrieved 18 December 2023, from https://hit.healthsystem.virginia.edu/index.cfm/_api/render/file/?fileID=E2F57A31-17A4-77A0-3EC55AE780DAB3CC&fileEXT=.pdf

Isselbacher, E. M., Bonaca, M. P., Di Eusanio, M., Froehlich, J., Bassone, E., Sechtem, U., Pyeritz, R., Patel, H., Khoynezhad, A., Eckstein, H. H., Jondeau, G., Ramponi, F., Abbasi, M., Montgomery, D., Nienaber, C. A., Eagle, K., & Lindsay, M. E. (2016). Recurrent Aortic Dissection: Observations from the International Registry of Aortic Dissection. Circulation, 134(14), 1013–1024. https://doi.org/10.1161/CIRCULATIONAHA.115.019359

Levy, D., Goyal, A., Grigorova, Y., Farci, F., & Le, J. K. (2022). Aortic Dissection. StatPearls. https://www.ncbi.nlm.nih.gov/books/NBK441963/

Lobaton, G. O., Chen, Y. J., Jelin, E., & Garcia, A. V. (2021). Unusual case of delayed congenital diaphragmatic hernia in Loeys-Dietz syndrome: a case report. Journal of Surgical Case Reports, 2021(1), 1–3. https://doi.org/10.1093/JSCR/RJAA604

Loeys, B. L., & Dietz, H. C. (2018). Loeys-Dietz Syndrome. GeneReviews®. https://www.ncbi.nlm.nih.gov/books/NBK1133/

Loeys-Dietz Syndrome – Symptoms and Causes | Penn Medicine. (n.d.). PennMedicine. Retrieved 26 October 2022, from https://www.pennmedicine.org/for-patients-and-visitors/patient-information/conditions-treated-a-to-z/loeys-dietz-syndrome

Loeys-Dietz Syndrome Foundation School Packet. (n.d.). Retrieved 31 October 2023, from https://static1.squarespace.com/static/5be355670dbda39d591a525e/t/5d0fd508a66301000184bd68/1561318666483/LDS_School+Packet_05272019.pdf

Lu, L., Liu, M., Sun, R. R., Zheng, Y., & Zhang, P. (2015). Myocardial Infarction: Symptoms and Treatments. Cell Biochemistry and Biophysics 2015 72:3, 72(3), 865–867. https://doi.org/10.1007/S12013-015-0553-4

Mayo Foundation for Medical Education and Research. (2021, August 6). Aortic dissection. Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/aortic-dissection/symptoms-causes/syc-20369496 

MacCarrick, G., Black, J. H., Bowdin, S., El-Hamamsy, I., Frischmeyer-Guerrerio, P. A., Guerrerio, A. L., Sponseller, P. D., Loeys, B., & Dietz, H. C. (2014). Loeys–Dietz syndrome: a primer for diagnosis and management. Genetics in Medicine, 16(8), 576. https://doi.org/10.1038/GIM.2014.11

Nienaber, C. A., Fattori, R., Mehta, R. H., Richartz, B. M., Evangelista, A., Petzsch, M., Cooper, J. V., Januzzi, J. L., Ince, H., Sechtem, U., Bossone, E., Fang, J., Smith, D. E., Isselbacher, E. M., Pape, L. A., & Eagle, K. A. (2004). Gender-Related Differences in Acute Aortic Dissection. Circulation, 109(24), 3014–3021. https://doi.org/10.1161/01.CIR.0000130644.78677.2C

Peicius, E., Blazeviciene, A., & Kaminskas, R. (2017). Are advance directives helpful for good end of life decision making: a cross sectional survey of health professionals. BMC Medical Ethics, 18(1), 1–7. https://doi.org/10.1186/S12910-017-0197-6/TABLES/4

Preparing for an Emergency Room Visit. (n.d.). Memorial Care. Retrieved 2 November 2022, from https://www.memorialcare.org/services/emergency-care/preparing-emergency-room-visit

Research, C. for D. E. and. (2019). FDA warns about the increased risk of ruptures or tears in the aorta blood vessel with fluoroquinolone antibiotics in certain patients. FDA. https://www.fda.gov/drugs/drug-safety-and-availability/fda-warns-about-increased-risk-ruptures-or-tears-aorta-blood-vessel-fluoroquinolone-antibiotics

Ritter Rules. (n.d.). The John Ritter Foundtion for Aortic Health. Retrieved 22 November 2022, from https://johnritterfoundation.org/your-aortic-health/ritter-rules/

Ruptured spleen. (n.d.). Mayo Clinic. Retrieved 23 November 2022, from https://www.mayoclinic.org/diseases-conditions/ruptured-spleen/symptoms-causes/syc-20352317

Zebra Stripes Awareness Ribbon Meaning for Rare Disease and Gifts. (2017, October 4). Awareness Gallery Art. https://awarenessgallery.com/blog/2017/10/04/zebra-stripes-awareness-ribbon-meaning-for-rare-disease-and-gifts/

Scroll to Top