Here's all about Marfan syndrome: A genetic disorder that damages the eyes, heart and blood vessels

Marfan syndrome is a genetic problem that affects the functioning of the connective tissues, which support the organs and structures in the body. The condition is most likely to damage the eyes, heart and blood vessels.

In this genetic disorder, the proteins that support the production of connective tissues disrupt and cause problems with the functioning of the bones and organs in the body.

The damage can be mild or severe and depend on various factors like the severity of the condition. The issue becomes life-threatening when the aorta is affected. Aorta is a large blood vessel that supports the heart in transferring blood to the rest of the body.

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Marfan syndrome symptoms

Symptoms can include curved and painful spine. (Image via Pexels/Kindel Media)

As the disorder affects any part of the body, the signs and symptoms vary greatly from person to person. While some people with this condition can experience life-threatening symptoms, others may develop mild issues.

The major features of a person having Marfan syndrome typically include:

• flat feet
• a slender body
• long fingers, arms, and legs
• nearsightedness
• extreme curved spine

More than half of the people with Marfan syndrome may have several dental, eye, heart, lung and skin problems, including:

Dental issues: higher arched palate and crowded or crooked teeth

Eye problems: cataracts, nearsightedness, difference in both eyes, problems of lens subluxation, glaucoma and problems in the retina

Heart problems: arrhythmia or heart palpitations, heart valve issues, aortic aneurysm, enlarged heart, aortic dissection and brain aneurysms

Lung problems: asthma, bronchitis, Chronic obstructive pulmonary disease (COPD), emphysema, pneumonia and pneumothorax

Skin problems: severe stretch marks and extremely dry and tight skin

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Marfan syndrome causes

The condition is inherited from parents. (Image via Pexels/MART PRODUCTION)

In almost every case of Marfan syndrome, the condition is inherited genetically from parents. According to medical experts, the condition is primarily caused by a defect in the particular gene that allows the body to produce proteins that support the connective tissues.

This is known as autosomal dominant, which means that the Marfan syndrome can be inherited by just one parent and may equally affect men and women. However, in some cases, the disorder is not passed genetically, and instead, a new mutation causes the condition.

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Marfan syndrome treatments

Treatments for the disorder usually include medications for controlling specific problems.

Additionally, regular monitoring is also crucial to check the improvement of the disorder. In severe cases where the condition has affected the aorta, surgery may be required.

It's important to note that there's no cure for this condition, but the right diagnosis, medications and treatments can significantly prevent complications and help manage the condition.

Medications

Medications and surgeries can help. (Image via Pexels/Pixabay)

Certain medications can be used to manage symptoms and prevent further complications.

Medications like beta blockers and angiotensin receptor blockers are often prescribed by doctors to improve the functioning of the heart and to manage blood pressure.

These medications also prevent enlargement of the heart and reduce risk of rupture.

Surgery

In serious cases, surgery may also be needed to prevent the aorta from rupturing. Additionally, surgeries can also help manage valve problems in the heart.

However, before surgery, your healthcare provider will take certain things into account, including your age, size of the aorta, medical conditions and family history.

Depending on your symptoms and severity of condition, your healthcare provider might recommend the following surgeries:

• scoliosis treatment
• eye surgeries
• aortic repair
• breastbone correction surgeries

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It's important to note that people with Marfan syndrome requires specific treatment plan depending on their health conditions.

While some may get better with medications and natural remedies, others might not need any treatment except for a regular check-up with their doctor. Remember that the treatment plan always depends on the severity of the symptoms and body parts affected.