Skinny, long limbs. Eyesight problems. Life-threatening heart issues.
On the surface, it may seem unlikely these traits could be related, but the common thread is the body’s connective tissue and a genetic disorder called Marfan syndrome.
What happens in Marfan syndrome?
Affecting about one in every 5,000 people, the disorder causes a mutation in a gene that tells the body how to make a certain protein – fibrillin-1, or FBN1 – which then increases production of another protein, causing problems with connective tissues through the body. That includes the heart, blood vessels, lungs, bones, joints, skin and eyes, often leading to vastly different symptoms of the same disorder, many of which only become noticeable as they get worse with time.
“It could be years before an individual develops the features we typically see, and that’s part of our dilemma with attempting to diagnose this syndrome,” says Dr. David Weaver, Medical Director of the Indiana University Marfan Syndrome Program, an Indiana University School of Medicine clinic for those with Marfan syndrome and related disorders.
What are the signs?
Most of the children evaluated at the clinic are referred after a school sports physical, when a doctor notes the child is particularly tall and skinny, often the most obvious indicators of Marfan syndrome. “Individuals with Marfan syndrome tend to be taller than average, with long thin limbs and fingers. They can also be double jointed and have flat feet,” Weaver says.
Eyesight issues are also often some of the first signs a child has Marfan syndrome, when the weakened connective tissue that holds the lenses behind the pupils stretches out. Ashley Miller, of Indianapolis, remembers having trouble seeing the TV as a child, and it was discovered that her lenses were dislocated, leading to her diagnosis.
Years later, eye issues prompted her to recognize signs of Marfan syndrome in three of her four children. About three out of four people with Marfan syndrome inherit the genetic mutation from a parent, according to The Marfan Foundation.