HWN Suggests

Holes are not Vacuums

After extensive imaging and several cardiology appointments, it was decided that I was “marfanoid” and should be seen by specialists in a bigger city. My parents and I drove to a research hospital where I was poked, proded, and studied for 2 whole days. The conclusion was that while I did not have the genetic markers of Marfans, there was clearly something wrong that should be followed by specialists closely. It took 8 more years before they realized it was Loeys-Dietz Syndrome.

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 Questions and Answers

Most people reach an LDS diagnosis because of a heart condition, which is its main characteristic. Another important part of understanding LDS is caused by a mutation in the gene makeup of a person, which means it affects the person for a lifetime.

Articles of Interest

Kristýna’s Story: The story of an invisible

But what bothers me the most is that almost nobody knows about Loeys-Dietz syndrome and as far as I know there are only 5 people with this diagnosis in the Czech Republic, including me, my son and one of my brothers.

Loeys-Dietz syndrome | VASCERN

Women with LDS can tolerate and have successful pregnancies and deliveries, although pregnancies should be considered high risk. Currently few data are available specifically for LDS, so current recommendations are also based on experience with Marfan syndrome.

Loeys-Dietz Syndrome – A Rare and Complex Heart Disease

Because relatively common symptoms can camouflage LDS, the condition may go undiagnosed until a serious complication occurs. Patients might be diagnosed with Loeys-Dietz after an aortic aneurysm...

Loeys–Dietz syndrome (literature review and case description)

The Loeys–Dietz syndrome is a rare autosomal dominant connective tissue disorder characterized by the pathology of the cardiovascular system in combination with various anomalies of the musculoskeletal system. In modern literature, there is neither any information about the frequency of pathology nor any algorithm of examination and treatment for patients with this syndrome.

Loeys–Dietz syndrome: a primer for diagnosis and management

Loeys–Dietz syndrome is a connective tissue disorder predisposing individuals to aortic and arterial aneurysms. Presenting with a wide spectrum of multisystem involvement, medical management for some individuals is complex.

Resources

Loeys-Dietz Syndrome Foundation

Encouraging education, fostering research and providing support for those impacted by Loeys-Dietz syndrome (LDS).

Beyond This

Living with Loeys-Dietz...

Loeys-Dietz Syndrome Foundation Canada

Encouraging education, fostering research and providing support to patients and their families.

ILC Charitable Foundation

There are eight known types of LDS, all of which may mimic different types of EDS, because all forms of collagen are affected due to problems with gene regulation. Like in Marfan Syndrome, people are often very tall and have long limbs. The co-morbidities commonly seen in LDS, such as IgE mediated allergies and Gastro Intestinal inflammation may be mistaken for the hEDS co-morbidities MCAS and gastroparesis.

NORD

Loeys-Dietz syndrome (LDS) is a genetic condition affecting the connective tissue and involving multiple organ systems including the blood vessels, skeleton, eyes and skin. It was first described in 2005 and has many shared characteristics with Marfan syndrome.