Unusually long limbs and fingers, as well as serious aortic problems and severe myopia can be signs of Marfan syndrome, a rare disease that can be detected by vision problems and back pain, although initially it usually goes unnoticed.
The doctor Juan Bowen, Assistant Professor of Medicine, Faculty of Medicine and Sciences of the Mayo Clinic, explained to El Diario that Marfan syndrome is a disorder of the connective tissue, that is, of the tissue that supports and attaches the organs and other structures of the body. It is caused by a mutation in the gene for a protein called fibrillin 1.
“People with Marfan they may feel fine without any symptoms, but most have vision problems as well as back and joint pain. Aortic and heart problems do not cause symptoms at first, but can result in vascular emergencies such as aortic dissection, ”explains Dr. Bowen. An aortic dissection is a serious, life-threatening problem that occurs when the aorta, the body’s most important artery, is torn.
It is a disease with a prevalence of one in every 5,000 people, but many have Marfan without knowing it and have not been recognized, points out the director of the Marfan and Thoracic Aorta Clinic.
How to know if it is Marfan syndrome
The diagnosis of this disease is made when it exists previously in the family or before manifestations in the ocular, cardiovascular or skeletal system. Adriana Rivera is a 36-year-old girl who was lucky enough to be diagnosed with Marfan at six months of age, when a pediatric cardiologist examined her.
“By living my whole life with this disease, I have been able to know myself as I am from the beginning. It would have been much more difficult for me to have been diagnosed with this syndrome later in life. because it is something that moves the floor “, says Adriana. And it is that since then he has had to go to multiple specialists such as orthopedists, ophthalmologists and cardiologists, and has undergone numerous surgeries, “the most serious was the fusion of my spine, a 12-hour operation at the age of 13 ”, He narrates.
Bowen explains that, to diagnose Marfan syndrome requires several tests, such as the eye where myopia or displacement of the lens of the eye can be found; a skeletal examination where tall stature, scoliosis, and pectus excavatum or sunken chest are found. In addition, an echocardiogram identifies defects in the valves and the aorta, and genetic testing is also done to confirm mutation in the fibrillin 1 gene.
Particularly in women with Marfan, early diagnosis is very relevant, since during pregnancy are at risk of fatal aortic dissection.
“Some drugs can slow the growth of the aorta to some extent, but in general people with aortic aneurysm need to undergo aortic replacement surgery,” explains the specialist. Medical care can improve the quality of life of Marfan patients and even prolong their life, because until a few years ago people with this syndrome died very young.
“Besides certain physical limits, thank God I have no mental limits”Admits Adriana. “I work and live within a framework of normality, although for me, normality includes constant physical pain, premature tiredness and taking medication. However, I am very active and happy in my life ”, he assures.
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Eddie is an Australian news reporter with over 9 years in the industry and has published on Forbes and tech crunch.