Marfan’s, EDS, and LDS.. What is the difference?

Connective tissue disorders include an array of different disorders that affect the fat, skin, muscle, joint, ligaments, bones and cartilage of your body. In addition, it can even affect the eyes, blood, and blood vessels. At its root, connective tissue holds our body together, and are made of proteins such as collagen and elastin.

The term connective tissue disorder is thrown around a lot. But there are many different kinds that can be present. It is no secret that our clinic often focuses on patients with hypermobility and Ehlers Danlos Syndrome, but we also help patients manage other kinds of connective tissue disorders, including Marfan Syndrome and Loeys Dietz Syndrome.

Loeys Dietz Syndrome is similar to EDS in almost all aspects, except that it primarily affects the connective tissue in the heart and its vessels. It is characterized by an enlarged aorta, which can weaken and stretch, causing an aneurysm. It is also similar to EDS/HSD in that it includes symptoms such as cervical spine instability, MCAS, easy bruising, velvety soft skin, and atrophic scarring.

Some of these LDS features are also found in Marfans, including the aortic dilation, mitral valve prolapse, flexible joints, scoliosis, pectus excavatum or carinatum, dural ectasia, and flat feet. Marfan syndrome differentiates in that it is characterized by long, slender, arms, fingers, legs, and toes. 

In addition, those with Marfans tend to have a curved spine, flexible joints (similar to EDS), crowded teeth, and stretch marks on the skin that are not related to weight gain. Similarly to Loeys Dietz, Marfans can affect the aorta through enlargement and regurgitation.

The most apparent difference between all of these connective tissue disorders comes down to genetics. All of these disorders have different genetic markers. For example, those with classical EDS have mutations in COL5A1 OR COL5A2. For those with Loeys Dietz, there is a mutation in either the TGFBR1, TGFBR2, SMAD3, TGFB2 and TGFB3 gene. And for Marfans, there is a mutation in the 

FBN1 gene.

And although all of these syndromes are different and special in their own way, the physical therapy treatment is often very similar. Focusing on strengthening and stabilizing in a safe and practical way is ideal for those with connective tissue disorders, but speaking to a physical therapist or your doctor is the best way to figure out your course of action!