A new, potentially lethal form of a connective tissue disease — Marfan’s syndrome — has recently been discovered.
The medical community is already aware of Marfan’s, which is an inheritable condition affecting a sufferer’s connective tissue. It’s brought on by a mutated gene that governs the structure of a protein that’s important in the proper formation of connective tissue — “fibrillin.” Since this type of tissue is found throughout the entire body, the disease can impact the nervous system, eyes, skeleton, lungs, skin, and heart and blood vessels.
As it pervades the body, Marfan’s can affect different people in different ways — for example, it could manifest as skeletal abnormalities, dislocation of the lens in the eye, stretch marks on the skin, abdominal or groin hernia, lung disease, or a heart murmur.
One of the more dangerous and more common effects of Marfan’s is a weakening of the walls of the aorta (the major artery that transports blood from the heart throughout the body). Because of the defective connective tissue, the aorta stretches out, becoming weak. This increases the risk that it could rip or rupture, which could cause serious complications and could even result in death.
The newly found cousin to Marfan’s has been dubbed “Loeys-Dietz syndrome,” after the researchers who discovered it. Loeys-Dietz has all the characteristics of Marfan’s — except it has one distinguishing feature that makes it all the more dangerous.
In addition to having the ability to rupture the aorta, like its cousin, Loeys-Dietz can also weaken the smaller blood vessels throughout the body, meaning that aneurysms can occur anywhere, not just along the major artery. Therefore, people with this form of connective tissue disease are at greater risk for aneurysms and must be monitored even more carefully.
While you might think that the discovery of a new disease is bad news (“Not another one!”), it’s actually not. Knowing exactly what types of health conditions are out there makes it easier for proper diagnosis — and therefore proper treatment — to occur. Armed with this new information, doctors should be able to save more lives.