Did you ever see someone with exceptionally irregular body parts? Someone whose one hand or finger is longer than the other? You should know that the person is suffering from Marfan syndrome. It might sound new to you but is a fatal medical condition. It is a genetic condition that usually affects connective tissues. It can impact any part of the body but commonly affect heart, eyes, blood vessels. Their effects could be mild but also life-threatening in the worst condition. It is an inherited condition affecting 1 in 5000 people. People who are suffering from this condition could lack strength due to its abnormal chemical makeup. It is found in all the genders, races but the severity may vary from person to person. It mostly damages aorta which is the artery that carries blood to various parts of the body. This syndrome causes dissection that ultimately results in bleeding in the wall of the vessel. It can cause dislocation of the eyes and also the detachment of the retina.
What are the causes?
If there is a random faulty gene in a sperm or egg, there is a chance person may develop Marfan. Most people also inherit it from their parent. The gene that is responsible for carrying this syndrome is called FBN1. It provides protein called Fibrillin 1 that provides connective tissue with some elasticity.
What are the symptoms?
There are various symptoms associated with the condition. They are:
- Stooped shoulders
- Long limbs
- Extremely fixed joints
- Long and narrow face
- Overcrowded teeth
- Flexible Joints
- Joint pain
- Stretch marks
What is the diagnosis available?
It could be a challenge to diagnose someone who is suffering from Marfan syndrome. In this, the physician will ask about the patient’s family history. All the symptoms will be taken into consideration. Length and feature of patient’s legs, fingers or body parts will be examined.
There are some other tests as well to check as well as confirm the diagnosis:
- Echocardiogram: It examines the heart and notes all the activities of the heart.
- Slit Lamp Eye Exam: It checks for dislocated lenses.
- ElectroCardioGram(ECG): To check heart rate and rhythm.
What are the treatments available?
There is no cure for Marfan available till date. However, treatments to alleviate the symptoms are present. There are medications available that you can get from an online pharmacy. Regular monitoring is done to help prevent bone, joint and tissue problems. Regular eye checkups are conducted to detect if anything is wrong with the retina or the eye lenses.
Surgeries are also advised for the affected people. Their goal is to prevent aortic dissection and also treat problems that could affect heart valves. You should consult an experienced surgeon as the patients will require a life-long follow-up care to prevent any future complications.
This medical condition affects the normal lifestyle. People’s normal activities might get hampered. So, it is necessary to take all the necessary measures in advance.
That’s all about this rare complication. Hope you find it informative. Share it with your friends and family to spread awareness. Stay Fit Stay Healthy.