Marfan Syndrome
a preview to my upcoming podcast episode
Connecting all organs and systems is something called connective tissue. This includes bone, cartilage, blood vessels, lymphoid tissue, adipose tissues, tendons/ligaments, and skin (dermis). The connective tissue serves for support, cushion, transport of fluids, storage of nutrients, movement, and protection from the environment respectively.
Some conditions like Ehlers Danlos syndrome, Rheumatoid Arthritis, and Marfan Syndrome are directly related to dysfunction of connective tissue.
I have covered Ehlers Danlos syndrome extensively in other podcasts and articles (see below).
In an upcoming podcast with Dr AmandaLynn Hoffman; we explore Marfan Syndrome a connective tissue disorder which is prevalent in 1 in 5,000 individuals in the United States. Dr. Hoffman is a first-hand expert in Marfan Syndrome as a Doctor and also as someone living with Marfan Syndrome. It was a tremendous opportunity to speak with her just before her Aorta surgery this Summer. We waited until she recovered from surgery to release this podcast and now the time has come.
Since many people have heard about Marfan Syndrome but are unfamiliar with its details I am sending this preview out prior to the launch of the podcast next week. Bookmark our podcast on my podcast homepage or on any of your favorite players so you get the launch releases instantaneously.
Marfan syndrome is a condition caused by a change (mutation) in a gene called FBN1. This gene is responsible for making a protein called fibrillin-1, which is essential for building strong connective tissue. In people with Marfan syndrome, this protein doesn’t work as it should, leading to weaker connective tissue. Mutations in the FBN1 gene associated with Marfan syndrome leads to dysregulated Tissue-Growth-Factor Beta (TGF-β) signaling.
TGF-Beta is is a multifunctional protein that plays a critical role in the body’s development, maintenance, and repair processes. It is a cytokine, involved in regulating many cellular processes, including cell growth, differentiation, immune response, and tissue remodeling.
Normally, TGF-beta is controlled by fibrillin-1. It’s kept at just the right level making sure its doing its job properly. In Marfan Syndrome, fibrillin-1 doesn’t control TGF-beta as well is it should. TGF-beta runs wild in s sense. This causes the cells to act differently, and can make tissue grow in unusual ways.
For example, blood vessels like the aorta can become too stretchy and weak. And, bones might grow longer than usual, making people taller and giving longer fingers and toes. More, Eye Problems might develop.
Let’s go into detail about how the systems are affected.
In the heart we see Aorta Issues: The aorta is the largest blood vessel in your body. In Marfan syndrome, the walls of the aorta can become stretchy and weak. This can lead to problems like aortic aneurysm (a bulging area) or aortic dissection (a tear), which are serious conditions that need medical attention. In addition, the heart valves, which control blood flow, might not close tightly, leading to heart murmurs or other issues.
Musculo-skeletally; Marfan Syndrome folks usually have a tall and slender build sometimes with long arms, legs, fingers, and toes. They may also develop curvature of the spine (scoliosis) or have a condition where the chest wall sticks out (pectus carinatum) or sinks in (Pectus exavatum). Their joints may be more flexible, making them more prone to sprains and dislocations.
The eyes may be affected in Marfan Syndrome including a condition called Ectopia lentis which is when the lens of the eye dislocates effecting vision. Some people with Marfan Syndrome will have myopia (Nearsightedness), meaning they can see things clearly up close but not far away.
The skin in people with Marfan Syndrome may be extra stretchy even in the absence of weight change leading to stretch marks.
Finally, but not exhaustively, Marfan Syndrome patients may experience breathing issue due to the structure of their chest or lungs.
Most patients face Aorta surgery at some point in their life. Careful monitoring is provided throughout life and the surgery is hopefully done in a non-emergent situation. One of the surgery techniques that is done is called the David-5 which is a valve-sparing-aortic-root-replacement surgery made famous Tirone Davide, MD; one of the most famous heart-surgeons in the world.
There are other emerging aspects of addressing Marfan Syndrome. Such as addressing some of the chronic inflammatory patterns seen in patients. Elevated levels of Matrix Metalloproteinases (MMPs), particularly MMP-2*and MMP-9, have been observed in the aortic tissues of Marfan patients. These enzymes break down connective tissue components and are upregulated in response to TGF-β signaling, leading to tissue degradation . Some therapies are being explored looking at modulating this pathway.
From: https://www.dovepress.com/an-overview-of-investigational-and-experimental-drug-treatment-strateg-peer-reviewed-fulltext-article-JEP
In addition, although not typical of an autoinflammatory disorder, certain pro-inflammatory cytokines, such as interleukin-6 (IL-6) and tumor necrosis factor-alpha (TNF-α), may be present in affected tissues. This is likely secondary to ECM disruption rather than a primary inflammatory condition. However, some therapies may be looking at modifying these signals as well.
Dr. Hoffman’s practice focuses on the quality of life of Marfan patients and she discusses many aspects in our discussion such as
Therapeutics mentioned
1. Nutrition
2. Hormone therapy
3. Herbal medicine
4. Deep tissue massage
5. Pilates
6. Kinesio Tape
7. Tetrahydro iso-alpha acids complex (TIAA) from Hops by Metagenics TGF-Beta modulator
8. Stem Cell Therapy
9. Gene Therapy for Marfan Syndrome
I look forward to share Dr. AmandaLynn’s most inspirational journey and we hope that it helps provide awarness for Marfan Syndrome and also additional resources for those living with Marfan Syndrome.
Related Articles:
<iframe width="560" height="315" src="
title="YouTube video player" frameborder="0" allow="accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share" referrerpolicy="strict-origin-when-cross-origin" allowfullscreen></iframe>
<iframe width="560" height="315" src="
title="YouTube video player" frameborder="0" allow="accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share" referrerpolicy="strict-origin-when-cross-origin" allowfullscreen></iframe>