Difference Between EDS And Marfan Syndrome

EDS and Marfan syndrome are both multi-systemic disorders, which are disorders related to the connective tissues of our human body. Connective tissues are the tissues that protect, support and structure the other tissues and organs in our body. Since, both the disorders are related to the connective tissues, there are some similarities. Though there are many key differences which you can read below.

EDS vs Marfan Syndrome

The main difference between the EDS and Marfan syndrome is that EDS is a heterogeneous group of conditions of connective tissue disorders. While Marfan syndrome is an inherited connective tissue disorder. EDS syndrome is a group of more than 10 different syndromes while Marfan is a single inherited disorder.

EDS vs Marfan Syndrome

EDS stands for Ehlers-Danlos syndromes. This syndrome is a heterogeneous group of connective tissue disorders which affects the skin, joints, and blood vessels of the patient. It involves a genetic defect in the connective tissue structure and synthesis. This syndrome is heterogeneous and so is divided into fourteen types.

Marfan syndrome is a disorder related to the connective tissues of the body. It affects the eyes, heart, and blood vessels. As a result of this syndrome, the patient diagnosed with it are usually tall and thin. This syndrome can be mild or severe, if it is severe it can become life-threatening as well.

Comparison Table Between EDS And Marfan Syndrome

Parameters of ComparisonEDSMarfan Syndrome
DefinitionEDS is a multi-systemic disorder, a heterogeneous group of connective tissue disorders.Marfan syndrome is an autosomal dominant disorder that affects the connective tissues in the body.
TypesThere are 14 types of EDS syndrome.There is no type.
SymptomsLoose joints
Stretchy or elastic skin.
Fragile skin (bruises easily)
Muscle pain
Disproportionately long arms, legs, fingers, and toes.
An abnormally curved spine.
Crowded teeth.
Tall and thin body
DiagnosisGenetic testing and skin biopsy are used.Ghent criteria are used.
TreatmentDrugs, Physiotherapy, and sometimes surgery.Physical exercises, medication, and sometimes surgery.

What is EDS?

EDS stand for Ehlers-Danlos syndromes. It is a disorder of a group of heterogeneous connective tissue disorders which affects the blood vessels, skin, and joints. It is a genetic disorder and can be noticed at birth or in childhood.

EDS occurs due to the genes which are present at birth, specifically cause of variations of different genes. The specific type of EDS is determined by the specific gene. The symptoms of the disorder include joint pain, loose joints, stretchy skin, abnormal scar formation, etc.

According to recent studies, it is a group of 14 connective tissue disorders. They are Classical EDS, Hypermobile EDS, EDS type charts Vascular variant of Ehlers–Danlos syndrome, Kyphoscoliosis EDS, Arthrochalasia EDS, Dermatosparaxis EDS, Brittle-cornea syndrome, Classical-like EDS, Spondylodysplastic EDS, Musculocontractural EDS, Myopathic EDS, Periodontal EDS, Cardiac-valvular EDS. Also, there is another classification that is based on the symptoms that are determined by specific gene mutations. These are Group A, B, C, D, E, F, and G. Indeed, there are many unidentified variants, and symptoms as well.

The disorder can be diagnosed by some tests like a genetic test, skin biopsy, etc. The disorder can be mild or severe. The severe disorder can lead to complications related to chronic pain, joint dislocations, aortic dissection, scoliosis, or early osteoarthritis. Though there is no cure to the disorder some proper medication, physical therapy, and bracing can help and the patient can lead a normal life.

What is Marfan Syndrome?

Marfan syndrome is a genetic disorder, an autosomal dominant disorder. It affects the connective tissues in the body. This syndrome is mostly genetic, 75% of the time the patient had inherited the syndrome. Though 25% of the time it can be a new mutation as well.

This syndrome occurs due to the nutation in FBN1, a gene that makes fibrillin. Fibrillin is a glycoprotein. This syndrome can be mild or severe, if it is severe it can become life-threatening. The disorder affects the blood vessel walls, skin, eyes, bones, lungs, heart, skeleton, etc. It affects the cardiovascular system, ocular and skeletal system as well. The severeness can cause complications to the heart and aorta.

One out of 1000 people is affected by this syndrome, globally. People affected with this syndrome are usually thin and tall and have over- flexible joints. Also, they have long arms, legs, fingers, and toes.

The disorder can be diagnosed via genetic testing and physical examination. Ghent criteria is used for the diagnosis of Marfan syndrome. There is no cure for this syndrome. Proper medication and care can help the patient to have a normal life expectancy. Some of the medications used are calcium channel blockers, ACE inhibitors, and beta-blockers like propranolol, etc.

Main Differences Between EDS And Marfan Syndrome

  1. EDS is a heterogeneous connective tissue disorder while Marfan syndrome is an autosomal dominant and genetically passed-on connective tissue disorder.
  2. EDS is divided into 14 types. There are no types of Marfan syndrome.
  3. EDS occurs because of a gene passed down through birth. The specific gene which causes the disorder decides the type of EDS. Marfan syndrome occurs because of a gene that makes fibrillin.
  4. The diagnosis of EDS syndrome is done by genetic testing and skin biopsy. The diagnosis of Marfan syndrome is done by physical examination and genetic testing, though, it is based on the Ghent Criteria.
  5. One out of 5000 people have EDS. 1 out of 1000 people have Marfan Syndrome. 

Conclusion

EDS and Marfan syndromes are both disorders in which the soft connective tissues are affected. Also, both disorders are rare and can be inherited.

EDS is a homogeneous disorder with a group of 14 connective tissue disorders, as identified recently. Recently, in 2017 a new classification has been proposed internationally to differentiate between the group of disorders.

Marfan syndrome is an autosomal-dominant disorder. It affects the cardiovascular and skeletal systems. It can happen due to inheritance but sometimes it can be a new mutation as well.

There is no cure to both of these disorders but with proper treatment, they can be controlled and people affected can have a good life and normal life expectancy.

References

  1. https://www.sciencedirect.com/science/article/pii/S0002937800701438
  2. https://onlinelibrary.wiley.com/doi/abs/10.1034/j.1399-0004.2001.600405.x
  3. https://www.sciencedirect.com/science/article/pii/S1521694207001386
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