There is still much to learn about Loeys-Dietz Syndrome. We hope that you find these articles, fact sheets, and links as a place to start and helpful in your LDS journey.
Explore hundreds more free resources in The Marfan Foundation’s Resource Library.
Medical Resources
DownloadABLE PDFs
Glossary of Terms
The medical terminology associated with a condition such as Loeys-Dietz syndrome can be confusing and overwhelming. The LDSF had developed a glossary to help define terms you may come across in your LDS journey.
School Packet
As a parent of an LDS child, knowing how to communicate with your child's school can be challenging. Find a sample letter, emergency information and school-specific facts in this PDF packet to help open the lines of communication between you and your child's educational institution.
Tracking Tools for Echocardiogram and Vascular Imaging Data
We hope these tools will help patients track the timing of and pertinent data from their cardiovascular imaging, including echocardiograms, MRAs, and CTAs. We believe it is important for patients to be empowered and partners in their healthcare. You and your physicians should fill out this information together to help track aortic and arterial dimensions that show aneurysmal disease or dissections. Tracking data over time can help document stability or growth of vasculature and ensure timeliness of appropriate imaging.
FIND A DOCTOR
A coordinated clinic is the best place to go for Marfan syndrome and related conditions care. A coordinated clinic provides expertise in all Marfan-related specialties: genetics, cardiology (heart), ophthalmology (eyes), and orthopedics (bones and joints).
Healthcare Insurance and Disability
It is critical for people with a chronic condition, such as LDS to have appropriate health insurance. That’s why we encourage you to learn about health insurance, know your rights, and educate yourself about your diagnosis.
Medical Guidelines
On February 27, 2014, in the online publication of Genetics in Medicine, Loeys-Dietz syndrome: a primer for diagnosis and medical management was published and authored by Gretchen MacCarrick and members of the LDSF Medical Advisory Council.
Presentations
View video presentations by medical professionals or those impacted by LDS.
The LDS Journey – In 2011, some of our families gathered to talk about their journey with LDS and to film a short video about their experiences and the hope they have. A special thanks to Alex at Fifth and Main Productions for his time and talents in making this video.
Please check out the LDSF YouTube page to view presentations from LDS specialists at past conferences.
New guidelines for the diagnosis and management of aortic disease were published on November 2, 2022 in the Journal of the American College of Cardiology and Circulation. These guidelines, which were created by a team of medical experts on behalf of the American College of Cardiology and American Heart Association, provide recommendations on the diagnosis, evaluation, medical therapy, endovascular and surgical intervention, and long-term surveillance of people with aortic disease based on evidence available in the literature and, in some instances, based on expert consensus opinions. They include specific recommendations for those with syndromic and non-syndromic genetic aortic conditions as well as other types of acute aortic syndromes. They also emphasize the role of shared decision-making.
The guidelines provide support for:
Seeking surgical treatment from high volume centers with experienced surgeons as part of a multi-disciplinary team for asymptomatic patients with extensive aortic disease, those who might benefit from complex open and endovascular repairs, and those with multiple co-morbidities.
Genetic testing for people with syndromic features, family history of thoracic aortic disease, or early onset of disease (under the age of 60).
Thoracic aortic imaging of family members of affected individuals to screen for asymptomatic thoracic aortic disease in specific cases.
Open surgery is recommended over thoracic endovascular aortic repair in patients with Marfan, Loeys-Dietz, and VEDS who have a descending thoracic aortic aneurysm that meets criteria for intervention and have suitable anatomy.
Specific recommendations for Loeys-Dietz syndrome include:
Treatment with beta-blocker or angiotensin receptor blocker in maximally tolerated doses.
Surgery for the prophylactic repair of the aortic root and ascending aorta should be based on the specific genetic variant, aortic diameter, aortic growth rate, extra-aortic features, family history, patient age and sex, and physician and patient preferences.
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Emergency Alert Card
The First Source of Information for First Responders.
We hope this tool will help patients/families to always have on hand a source of information regarding Loeys-Dietz syndrome, as well as their personal medical information. If that information is used by first resonders in an emergency situation, or just as a quick reference at a doctor's appointment; we think this could be a very valuable addition to your wallet, purse, or pocket.
Below you will find three links. The first is a link to short instructional video we put together to show exactly how to fill out and fold this card. The next two are the card itself in PDF format. One version for US/Canada and one for international users.
Emergency Alert Card (a fillable PDF) - US/Canada (Dial 911 Version)
Emergency Alert Card (a fillable PDF) - International (Adds field to enter custom national emergency number)
We recommend Adobe Acrobat for filling out and printing this card. You can download that software for free here.
If you have any questions about this resource, feel fee to contact us at info@loeysdietz.org
DEI and Health Equity
At the Loeys-Dietz Syndrome Foundation, we’re dedicated to providing resources that help to empower and equip all people to be able to advocate for the best care, arm yourself with knowledge, and educate health care providers. Below are links to popular resources and tools that may be useful for gathering information and sharing in a medical environment. Chronic conditions or chronic pain and duality of where you go and how to prepare.
Personal Perspectives Panel: Maximizing Your Doctor Visits
This panel presentation digs into practical ways you can get the most out of your doctor visits. This discussion looks at what you can prepare ahead of time and ways you can advocate for yourself during a visit, among other steps you can take to make sure you get the most out of each visit. Members of the Marfan, LDS, and VEDS community will share personal experiences, with medical professional advise from Gretchen MacCarrick, MS, CGC, Genetic Counselor in the Department of Genetic Medicine at Johns Hopkins University.
Public Health Reports - “The Social Determinants of Health: It's Time to Consider the Causes of the Causes”
Evidence has accumulated pointing to socioeconomic factors such as income, wealth, and education as the fundamental causes of a wide range of health outcomes. This article broadly reviews some of the knowledge accumulated to date that highlights the importance of social—and particularly socioeconomic—factors in shaping health, and plausible pathways and biological mechanisms that may explain their effects. We also discuss challenges to advancing this knowledge and how they might be overcome.
National Center on Health, Physical Activity, and Disability - “Achieving Health Equity Means Including People with Disabilities”
There are several definitions of “health equity,” but most would agree with the Centers for Disease Control and Prevention’s (CDC) definition, which states that “Health equity is achieved when every person has the opportunity to ‘attain his or her full health potential’ and no one is ‘disadvantaged from achieving this potential because of social position or other socially determined circumstances.’” There are two very important words to emphasize in this description: every person.
The Brookings Institution - “Disability rates among working-age adults are shaped by race, place, and education”
Evidence has accumulated pointing to socioeconomic factors such as income, wealth, and education as the fundamental causes of a wide range of health outcomes. This article broadly reviews some of the knowledge accumulated to date that highlights the importance of social—and particularly socioeconomic—factors in shaping health, and plausible pathways and biological mechanisms that may explain their effects. We also discuss challenges to advancing this knowledge and how they might be overcome.
Disability Rights Education and Defense Fund - Health Disparities at the Intersection of Disability and Gender Identity: A framework and literature review
This paper examines the known research on health disparities at the intersection of disability and gender identity. It begins with a demographic analysis of transgender people with disabilities, which summarizes the available data on the prevalence and types of disabilities among transgender people. It then examines the limited research on disparities in health outcomes among this intersectional group, and it presents data on some of the known determinants of these disparities, including health care access barriers and socioeconomic factors. To conclude, this paper makes recommendations on areas of future research.
International Journal of Environmental Research and Public Health - Experiences of LGBTIQA+ People with Disability in Healthcare and Community Services: Towards Embracing Multiple Identities
Our research suggests actual inclusive, accessible services can be achieved in part through policy and practice that actively responds to the specific needs of LGBTIQA+ people with disability, in addition to LGBTIQA+ education for disability services and disability and accessibility education for LGBTIQA+ focused services. As we do in this article, we argue that this work must be done by prioritising authentic participation of LGBTIQA+ people with disability in the services and research that is about them.
Ohio State University Study – “The Double Burden: Health Disparities among People of Color Living with Disabilities”
The Ohio Disability and Health Program (ODHP) has released an evidence-based policy brief, The Double Burden: Health Disparities among People of Color Living with Disabilities, which explores the health disparity-amplifying phenomenon experienced by racial and ethnic minorities who have disabilities and discusses the need to collect disability data and/or identifiers, together with racial and ethnic data, to improve the health of all people.
Disability & Philanthropy Forum – Connections Between Health Equity and Disability
When it comes to health care, significant disparities abound between people with disabilities and non-disabled people. From physical barriers and discrimination, to financial hurdles and a lack of available resources, access to health care is alarmingly inequitable for disabled people around the world. To begin your learning, please watch our webinar on the connections between health equity and disability. Then, we encourage you to explore the following articles and resources.
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