Marfan syndrome is an inherited disorder that affects human connective tissues. Connective tissues are the fibres that anchor and support human organs and other structures of the body. It also plays a crucial role in developing the body to grow properly.
Bundle of proteins made up the connective tissue. The particular protein that is involved in Marfan Syndrome is called fibrillin-1. Mutations in the gene that makes fibrillin-1 cause Marfan syndrome. Based on the statistical data from marfan.org, about 1 in 5000 population worldwide has Marfan syndrome. There are no gender or ethnic differences in the data. And from those who have Marfan syndrome, 3 out of 4 people inherit the disorder; get the disorder due to the genetic mutation from a parent who has it. Thus, it shows that some of the people have the disorder without any family history of Marfan syndrome. It is called a spontaneous mutation. As it is a genetic disorder, every person with Marfan syndrome has a 50 per cent chance to pass along the genetic mutation every time they have a child.
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How to know that we have Marfans?
Marfan is a genetic disorder. It means that people with Marfans bring along the genetic disorder since day one of their lives. However, features or the signs of Marfans are not always present right away. Some will develop the features of Marfans at birth or childhood, but some will only develop the features during adulthood. Some of the features will be worsened by time. Thus, it is important to be aware of the features to ensure early diagnosis and treatment. The sooner the diagnosis, the sooner the treatment is given, the better the prognosis for the patients’ health.
As Marfans affects the connective tissue and connective tissue is found throughout the body, Marfans can lead to disorder of multiple systems in the body. Thus, there are many signs or features that can be related to Marfan syndrome. Let’s divide the Marfan syndrome symptoms into systems of the body for easy references:
Cardiovascular systems (Heart and blood vessels)
Marfan syndrome commonly leads to some heart problems. It is a serious medical condition that may threaten our lives. Patients with Marfan’s are common to develop aortic dilatation or aneurysm. It is a condition when the main vessels from our heart that carry the blood to the entire body are now enlarged or bulged. It will reduce the efficiency of the blood transfer throughout the human body. In this case, the signs are not easily visible or being noticed. But, people may have developed some palpitations or feelings of the heartbeat due to the heart pumping harder to compensate for the inefficiency of the blood transfer or it also may lead to dizziness or fatigue due to lack of oxygen supply throughout the body.
Skeletal system (Bones and joints)
Features and signs of the skeletal system are more common as they are easily noticed. People with Marfan syndrome will have long arms and legs, tall and thin body type, long and thin fingers, flat feet and high-arched palate, and flexible joints. Besides, Marfan syndrome also increases the risk of abnormal curves in the growth of the spine, such as scoliosis or kyphosis. These abnormalities may lead to other musculoskeletal problems mainly in their stability, postures, and mobility. It can also interfere with the development of the ribs, which can cause the breastbone to either appear sunken into or protrude the chest.
Ocular system (Eyes)
People with Marfan’s develop eye problems such as blurry of vision, shortsightedness or other eye problems. However, there is also the possibility for more serious eye conditions such as lens dislocation where the focusing lens within your eye can move out of the place because its supporting structures become weak due to the disorders of the connective tissue. Besides, it also can cause early-onset glaucoma due to an increase in the pressure within the eye, which can damage the optic nerve.
Respiratory system (Lungs)
Last but not least, Marfan syndrome is also sometimes present with few respiratory signs and features. People with Marfan’s may develop sudden lung collapse, which a person who is suffering from the condition will feel sudden difficulty breathing. It is a serious medical condition and needs emergency management. Other than that, they also can develop sleep apnea, which is a difficulty or disturbance in breathing when a person is sleeping.
In conclusion, Marfan syndrome is a common genetic disorder worldwide. However, with proper management and monitor, Marfans is something that we do not need to be afraid of. If you noticed yourself or others nearby present with some of the features mentioned, please get the medical attention as soon as possible for efficient management and better health for the rest of the lives.