Let’s get to know what is Marfan syndrome and how does it affect our body

Do you know guys? connective tissues (a group of tissues) that are responsible for maintaining the structure of the body and supporting internal organs and other tissues. It is important for our body like the heart because it helps the body grow as well as develop properly. While Marfan syndrome caused the body’s connective tissue. It is a genetic condition that directly affects the body’s connective tissues.

What causes Marfan Syndrome

It is autosomal dominant, which means a child inherits it if only one parent has the syndrome. It is caused by a defect in the gene that encodes the structure of elastic fibres and fibrillin (known as a fibrillin- 1 or FBN1), a special component of connective tissue. Do you know guys? about one in 5000 people suffers from Marfan syndrome, including women and men of all ethnic groups and races. While about 3 out of 4 people with Marfan syndrome come into it because they get the genetic mutation from a parent who already has it. But many people with Marfan syndrome are the first in the family to have it, when such consequences take place, then it is known as a spontaneous mutation. One thing definitely makes you startled is that there has a fifty per cent chance that a person with Marfan syndrome will pass along the genetic mutation each time when they have a child. Now! You are thinking that how is it possible? As I mentioned you guys’ connective tissues find throughout the body. In Marfan syndrome, the connective tissue is not normal, resulting from many-body systems being affected including bones, blood vessels, nervous system, tendons, cartilage, heart, eyes, nervous system, lungs and skin.

Signs and Symptoms of Marfan syndrome

Do you know guys, Marfan syndrome is so mild? In most cases, the disease progresses with age and symptoms of this syndrome become visible as changes in the connective tissue arise.

· Skeletal System

The visible symptoms occur in bones and joints. Visible symptoms may include long fingers and toes, unusual small jaw, long limbs, loose and flexible joints, a long or narrow face, deep-set eyes, crowded teeth, little fat under the skin, low muscle tone etc.

· Heart and Blood vessels

This syndrome can affect the heart and blood vessels. The large blood vessels (aorta transport blood from the heart) can stretch and weaken. It can lead to leaking from the aorta, leaking valves in the heart and tearing in the aorta that can suddenly happen.

Some of these changes can be life-threatening.

Symptoms of cardiovascular issues with Marfan syndrome include chest pain, fatigue, breathlessness and irregular heartbeat.

· Eyes

People with Marfan syndrome often have eye issues such as near-sightedness, cataracts, glaucoma, displacement of the lens of the eyes, retinal detachment, limited development of the iris and unusual flat cornea.

· Brain and spinal cord problems

Most people develop dural ectasia (a membrane that surrounds the brain and spinal cord). In this disorder, dura expands and it put pressure on vertebrae in the lower back, leading to back pain, abdominal pain, leg pain, headache and numbness in the leg.

Diagnosis of Marfan syndrome

However, there is no test for this syndrome. But healthcare professionals usually start the process by considering any features or symptoms, asking about the patient’s family history, conducting physical exams and using specific criteria to assess Marfan syndrome. Do you know? using such criteria, known as Ghent nosology (doctor gives a point for features like flat fleet, scoliosis and any issue with the aorta).

Several exams conduct for Marfan syndrome, including an MRI scan, CT scan or X-Ray to detect the lower back problem, ECG to detect aorta and valve problems in the heart (to access heart rate and rhythm and an eye exam to access eye sights for glaucoma, cataract and other relevant issues. Additionally, healthcare professionals advise conducting genetic tests so that they can see if any changes are present in the FBN1 gene. Thus, they identify Marfan syndromes. Surgery is also the best option for this disorder.

Treatment

If the person is found with Marfan syndrome, then healthcare professionals usually prefer to give beta-blockers (i.e., propranolol or atenolol) because these can help to treat cardiovascular symptoms. Another option is Angiotensin receptor blockers i.e. losartan or irbesartan but still, research is ongoing on this receptor. Experts also suggest that patients with Marfan Syndrome go for an ECG test once a year to monitor heart health. For bones and joints prescribes orthopaedic brace while for the eye issue suggest regular eye exams and possible interventions such as using eye contact lenses, wearing eyeglasses and surgery in fewer cases.

I hope this blog gives you all a brief acknowledgement of Marfan syndrome. Be aware all the time and don’t take everything lightly.

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