Differences Between EDS and Marfan Syndrome

EDS vs Marfan Syndrome

Health problems have always been an issue and continuous topic for discussion, especially if we have someone in the family who is going through it. One of these problems is what they call EDS, or Ehlers-Danlos Syndrome, which is usually associated, and at times confused with, MFS, also called Marfan syndrome. More often than not, they’re associated with each other in such a way that some people assume that if they have one, they also have the other … which is not entirely true, and at the same time, it is better to be discussed and properly defined, so parents and relatives who may know someone who may notice these symptoms we will be talking about here, would be able to take the time to have their relative checked up and further assessed by the right doctors.

What is EDS?

Earlier, we gave the full name of the disorder, and to define what EDS is, in a nutshell, it is a multisystemic disorder. What is fully affected are the soft connective tissues. It is also genetic, which means if either or both parents have it, there is a 50% chance that the child would too. EDS is a defect that is caused by a protein called collagen. EDS is characterized by several conditions, and these are: skin extensibility, join hypermobility, and tissue fragility. Collagen is important because it is the building block of the body that provides support and strength. It affects the ligaments in the body, the organs, and the tendons, to name a few. This means if collagen in the body is defective, it would produce problems internally as well. Based on studies, one out of 5,000 is the current ratio of someone who might be affected by EDS.

What is MFS?

MFS, similar to EDS, is also a multisystemic disorder. It also affects the soft connective tissues, but what is different about MFS to EDS is the cause. In MFS, the disorder is caused by mutations in the genes, specifically the FBN1 gene. This is an important gene in the development of the body, as the encoding of this gene focuses on the microfibrillar protein, fibrillin-1. The gene FBN1, however, also affects the structural disorder of the connective tissues, which is why more often than not, the symptoms that MFS patients are misdiagnosed to have EDS and at times, vice versa. People who might have MFS display the following symptoms: taller than their peers with a lean and lanky build. They have disproportionately long arms, long legs, and their fingers and toes are long and thin. Their joints are flexible and loose. Patients have myopia, or nearsightedness, or other vision problems. There are certain facial characteristics like small lower jaw, deep-set eyes, long thin face, high-arched roof of the mouth and crowded teeth. Remember, though, that these are common features and symptoms, and you should remember that these characteristics happen all together or most of them present. Let a doctor or a set of doctors diagnose a patient who might have it; this is always best.

SUMMARY:

EDS and MFS are both multi-systematic disorders. Both are related to and affect the soft connective tissues.

EDS and MFS are differentiated by the specific ‘cause’ that give this type of disorder to the patient. EDS patients have it because of a protein disorder called collagen. MFS patients have it because of a certain gene called FBN1.

Certain symptoms are seen on patients who have either EDS or MFS. It is more important to have a specialist, or group of specialists, diagnose the patient before reaching your own conclusion, which might just be based on what you see, like physical attributes alone.

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