What is the Difference Between Ehlers Danlos and Marfan Syndrome

The key difference between Ehlers Danlos and Marfan syndrome is that Ehlers Danlos syndrome primarily affects skin, joints, and blood vessels, while Marfan syndrome primarily affects the heart, eyes, blood vessels, and the skeleton.

Ehlers Danlos and Marfan syndrome are two different inherited connective tissue disorders. There are around 200 different conditions under inherited connective tissue disorders. Some of the most well-known inherited connective tissue disorders are Ehlers Danlos syndrome, Marfan syndrome, Loeys Dietz syndrome, cutis laxa, Stickler syndrome, and thoracic aortic artery dilatation and dissection.

CONTENTS

1. Overview and Key Difference
2. What is Ehlers Danlos Syndrome
3. What is Marfan Syndrome
4. Similarities – Ehlers Danlos and Marfan Syndrome
5. Ehlers Danlos vs Marfan Syndrome in Tabular Form
6. Summary – Ehlers Danlos vs Marfan Syndrome

What is Ehlers Danlos Syndrome?

Ehlers Danlos syndrome is an inherited connective tissue disorder that primarily affects skin, joints, and blood vessels. There are 14 subtypes of this disorder. Connective tissue is a complex mixture of proteins and substances that provides elasticity to underlying structures in the human body. A severe form of this disease is known as vascular Ehlers Danlos syndrome, which causes the walls of the blood vessels, intestine, and uterus to rupture. The signs and symptoms of Ehlers Danlos syndrome include overly flexible joints, stretchy skin, fragile skin, distinctive facial features such as a thin nose, thin upper lip, small earlobes, and prominent eyes, translucent skin that bruises, weakened aorta that tend to rupture, and weakened walls of the uterus and large intestine that tend to rupture.

Mutations in at least 20 genes, including COL5A1, COL5A2, and rarely COL1A1 genes, have been associated as the cause of Ehlers Danlos syndrome. Moreover, Ehlers Danlos syndrome can be diagnosed through family history, physical examination, and genetic testing. Furthermore, treatments for Ehlers Danlos syndrome include medications (pain relievers (acetaminophen), blood pressure), physical therapy, and surgical and other procedures.

What is Marfan Syndrome?

Marfan syndrome is an inherited connective tissue disorder that primarily affects the heart, eyes, blood vessels, and skeleton. People who are suffering from Marfan syndrome are normally tall and thin with unusually long arms, legs, fingers, and toes. The damages that are caused by Marfan syndrome can be mild or severe. Marfan syndrome is caused by defects or deletions in the FBN1 (fibrillin-1) gene. The signs and symptoms of Marfan syndrome include tall and slender stature, disproportionately long arms, legs, and fingers, breastbone that usually protrudes outward or dips inward, a high arched palate, crowded teeth, heart murmurs, extreme nearsightedness, an abnormally curved spine, and flat feet.

Marfan syndrome can be diagnosed through family history, physical examination, heart test, eye test (slit lamp exam, eye pressure test), and genetic testing. Furthermore, treatment options for Marfan syndrome are medications (blood pressure lowering drugs), vision therapies, surgeries, and other properties (aortic repair, scoliosis surgery, breastbone correction, eye surgery).

What are the Similarities Between Ehlers Danlos and Marfan Syndrome?

• Ehlers Danlos and Marfan syndrome are two different inherited connective tissue disorders.
• Both are multisystemic disorders.
• They primarily affect the soft connective tissue of the human body.
• Both disorders are due to mutations or changes in specific genes.
• They can be treated through medications and surgeries.

What is the Difference Between Ehlers Danlos and Marfan Syndrome?

Ehlers Danlos syndrome is an inherited connective tissue disorder that primarily affects skin, joints, and blood vessels, while Marfan syndrome is an inherited connective tissue disorder that primarily affects the heart, eyes, blood vessels, and skeleton. Thus, this is the key difference between Ehlers Danlos and Marfan syndrome. Furthermore, Ehlers Danlos syndrome is caused by mutations in genes such as COL5A1, COL5A2, and rarely in COL1A1. On the other hand, Marfan syndrome is caused by a mutation in the gene FBN1 (fibrillin-1).

The below infographic presents the differences between Ehlers Danlos and Marfan syndrome in tabular form for side-by-side comparison.

Summary – Ehlers Danlos vs Marfan Syndrome

Ehlers Danlos and Marfan syndrome are two different hereditary connective tissue disorders (HCTDs). Ehlers Danlos syndrome primarily affects skin, joints, and blood vessels, causing overly flexible joints, stretchy skin, fragile skin, distinctive facial such as thin nose, thin upper lip, small earlobes, prominent eyes, translucent skin that bruises, weakened aorta, walls of the uterus, and large intestine that tend rupture. On the other hand, Marfan syndrome primarily affects the heart, eyes, blood vessels, and skeleton, causing tall and slender stature, disproportionately long arms, legs and fingers, breastbone that usually protrudes outward or dips inward, a high arched palate, crowded teeth, heart murmurs, extreme nearsightedness, abnormally curved spine, and flat feet. So, this summarizes the difference between Ehlers Danlos and Marfan syndrome.

Reference:

1. “Ehlers-Danlos Syndrome.” Mayo Clinic, Mayo Foundation for Medical Education and Research, 16 Oct. 2020.
2. “Marfan Syndrome.” Mayo Clinic, Mayo Foundation for Medical Education and Research, 5 May 2022.

Image Courtesy:

1. “Ehlers-Danlos syndrome 2” By Caroldermoid – Own work (CC BY-SA 3.0) via Commons Wikimedia
2. “Marfan Syndrome E00556 (CardioNetworks ECHOpedia)” By CardioNetworks: Secretariat – CardioNetworks: E00556.jpgAMC Echolab, AMC, The Netherlands (CC BY-SA 3.0) via Commons Wikimedia