February is National Marfan Awareness Month, and that makes this an ideal time for spreading awareness about Marfan Syndrome. The earlier symptoms of Marfan Syndrome are detected, the more effective will be any treatment delivered to someone afflicted by it. In Hernando and elsewhere in the U.S., Marfan Syndrome is largely an inherited disease, except in those relatively few cases where it appears spontaneously in an individual, with no prior family history of it. Senior home care professionals are ideally positioned to detect symptoms of Marfan Syndrome and react appropriately so that patients can continue to enjoy good quality of life.
What is Marfan Syndrome?
Marfan Syndrome is a genetic disorder that has its greatest impact in the connective tissue of the body. All the body’s cells, tissues, and organs are held together by connective tissue, and that’s why it has such an immense role in body growth and development. Marfan Syndrome occurs when there is a mutation in the gene which is responsible for the manufacture of a protein called fibrillin-1.
The net result of this is that there’s an increase in another protein known as ‘transforming growth factor beta’, which gives rise to all the symptoms and problems associated with Marfan Syndrome. Since this is a disorder affecting the body’s connective tissue, it can literally have an impact at just about any location within the body. The most common effects are manifested in the bones, joints, eyes, blood vessels, and unfortunately in the heart. When Marfan Syndrome affects the heart, it most often causes an enlargement of the aorta, and that can be a life-threatening situation.
How do people get Marfan Syndrome?
Only about one person out of 5,000 has Marfan syndrome, and it is an ailment that can trouble both genders, as well as all ethnic groups and races. Approximately 75% of all people with Marfan syndrome inherit it from one of their parents, and any parent who has Marfan Syndrome has a 50-50 chance of passing it on to each of their children.
Although it is primarily an inherited disease, Marfan Syndrome can spontaneously appear in someone who has no family history of the disease. Cases like these are considered spontaneous mutations because the afflicted person is the first individual in their family to have Marfan Syndrome. Even though Marfan Syndrome is present at birth for all those bothered by it, symptoms may not show up at all during the early part of a person’s life.
Other people demonstrate symptoms of Marfan Syndrome immediately after birth, and these have to be carefully managed so that a person can live a long and healthy life. People afflicted with Marfan Syndrome can have the same life expectancy as individuals without it, but constant monitoring and caretaking must be involved, so that symptoms don’t become life-threatening. The earlier that any treatment is applied, the more likely it is for a favorable outcome to be achieved. It should also be borne in mind that some symptoms of Marfan Syndrome can become worse over time, and those situations require even more careful monitoring and treatment.
How does Marfan Syndrome affect your heart during aging?
At any point in time, someone troubled by Marfan Syndrome can experience an enlarged aorta, which is the largest artery carrying blood away from the heart. An enlarged aorta is more likely to occur in a younger person who has Marfan Syndrome, but it can literally occur at any point in a person’s life, so periodic screening by ultrasound is a good precaution to take. If the aorta becomes enlarged, there is a danger that it will burst, and that could become a life-threatening situation. People have been known to die suddenly as a result of a burst aorta.
The normal size of the aorta is 2 cm, and it is considered to be enlarged at 3 cm, but it is most likely to burst when it has reached a width of about 5 cm, and that can lead to serious problems. This can also leave a patient more susceptible to atherosclerosis, hardening of the arteries, in other locations around the body, and that can degrade circulation such that a critical point might be reached. A person who has Marfan Syndrome will generally experience sudden strong pain in the abdominal area, or in the lower back when there is a rupture of the aortic artery, and it must then be dealt with immediately.
For many people, there are no signs or symptoms of aortic enlargement at all, right up until the time a rupture occurs. That is why screening is so important for people who have Marfan Syndrome, and why periodic monitoring should be carried out. With February being National Marfan Syndrome Month, this might be the best time of the year to get screened, so you can have peace of mind about your personal health status.