Unusually long limbs and fingers, as well as serious problems with the aorta and severe myopia can be signs of Marfan syndrome, a rare disease that can be detected by vision and hearing problems. back pain, although initially it usually goes unnoticed.
Dr. Juan Bowen, Assistant Professor of Medicine, Faculty of Medicine and Sciences of the Mayo Clinic, explained to El Diario that Marfan syndrome is a connective tissue disorder, that is, the tissue that supports and holds the organs and other structures of the body. Its cause lies in a mutation of the gene for a protein called fibrillin 1.
“People with Marfan can feel fine, without any symptoms, but most have problems with sight and also back and joint pain. Aortic and heart problems cause no 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 largest artery, is torn.
This is a disease with a prevalence of one in 5,000 people, but many have Marfan without knowing it and have not been recognized, says the director of the Marfan and Thoracic Aorta Clinic.
How to know that it is Marfan syndrome
The diagnosis of this disease is made when it previously exists 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 old, when examined by a pediatric cardiologist.
“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 shakes your ground”, 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, an operation of 12 hours at the age of 13 years old”, he narrates.
Bowen explains that, to diagnose Marfan syndrome it is necessary to perform several exams, such as the eye exam where myopia or displacement of the lens of the eye can be found; a skeletal exam where tall stature, scoliosis, and pectus excavatum or sunken chest are found. In addition, an echocardiogram identifies defects in the valves and 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, because during pregnancy they are in danger of suffering aortic dissection with fatal results.
The Marfan treatment
“Some medications can stop the growth of the aorta to a certain extent, but in general people with aortic aneurysm need to have aortic replacement surgery” , explains the specialist. Medical care can improve the quality of life of patients with Marfan and even prolong their life, because until a few years ago people with this syndrome died very young.
“ Apart from certain physical limits, thank God I don’t have 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”, she assures.
If you wish to obtain more information about Marfan syndrome, participate in the first virtual conference in Spanish about this condition next Saturday 13 of January of 08: 36 AM –5 PM (EST). Doctors, experts and patients will participate in this free event whose objective is to offer information about this disease to anyone interested. Sign up here.
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