Have you ever heard of Marfan syndrome? What is it? What does it look like? And can adults have it? In this article, we will discuss all the aspects related to Marfan syndrome in adults and tell you everything you need to know.

What is Marfan syndrome?

Marfan syndrome is a hereditary condition caused by defective connective tissue, which is responsible for the structure and support of the body and its organs. Marfan syndrome causes multisystem disease which mainly affects the cardiovascular, ocular and musculoskeletal systems. Early detection of the symptoms is essential for preventing complications, as the disease is progressive and gets worse with age.¹

Marfan syndrome is an ‘autosomal dominant’ condition, meaning that only one copy of the disease-causing gene is needed to cause the disease. Therefore, if a parent has Marfan syndrome, any of their children will have a 50% chance of inheriting the syndrome as well. However, 25% of cases are reported in children without an affected parent, meaning that gene mutations causing Marfan’s can spontaneously appear. It is seen equally in both sexes.²

Specifically, Marfan syndrome is caused by a defect in a gene called Fibrillin-1 (FBN1), which encodes an essential component of the extracellular matrix, which supports tissues. This mutation affects some organs more affected than the others with the lungs, arteries and skin being particularly vulnerable. This is because they undergo constant stretching and recoil. The mutation can also affect deformable tissues, such as the lenses and sclera of the eye.³

What are the symptoms of Marfan syndrome?

Symptoms of Marfan syndrome appear differently from person to person depending on the severity and on the organs affected; the syndrome can be very mild to the extent that it may even pass without being noticed. The symptoms can affect many parts of the body, in particular the skeleton, cardiovascular system and the eyes. We will discuss these in turn.

Skeletal symptoms

The musculoskeletal system is composed of the bones and muscle and their joining tissues. This system is responsible for the movement and stability of the body, and is significantly affected by Marfan syndrome. Marfan’s can impact almost every aspect of an individual’s life, from the simple act of walking and sitting, to running and sports.

Features include:

1. Tall stature and thin look: people with Marfan syndrome tend to be taller than others because they have an overgrowth of the long bones, and the lower segment of the body becomes taller when compared to the upper. This increase in length is usually noticed in childhood and they remain tall as well in their adulthood. They also appear thinner than usual.

2. Arachnodactyly: this means that they have long and slender bones of the hands and feet.

3. Hyperflexibility: the ligaments that connect the bones and muscles to each other become lax in Marfan’s. This results in the joints being very flexible. Although this feature may initially be a blessing, especially for athletes, it can cause joint pain or discomfort - and may eventually lead to deformity and dislocations.

4. Deformities: deformities alter the body shape and can make the regular body functions, like breathing, more difficult. They become more prominent when the body is at its fastest growth period in adolescence and worsen with time.

Deformities can include:⁴

• Scoliosis: curvature of the spine
• Funnel chest: when the lower central part of the front chest wall becomes abnormally depressed
• Pigeon chest: the reverse of Funnel chest. Pigeon chest is when the lower central part of the front chest wall becomes abnormally protruded

Cardiovascular

The cardiovascular symptoms are the most concerning, and they are the leading cause of death in adults with Marfan syndrome.

Marfan syndrome can cause the following:²

1. Aortic aneurysm: this is the most commonly encountered cardiovascular problem. The aorta is the largest artery in the body When an aneurysm (a weakness of the vessel wall) forms, the vessel may become enlarged, bulge, or thin. As the aneurysm grows bigger, it may cause the aorta to tear or dissect, causing catastrophic bleeding.

2. Heart valve problems: this refers to when the valves of the heart don’t function properly because of the change in their structure; any valve malfunction can affect the heart and eventually lead to heart failure.

Potential cardiovascular complications

Potential complications of Marfan syndrome include:⁵

• Transient ischaemic attack and stroke: defects in blood vessels can reduce blood flow to the brain, leading to a stroke
• Bleeding into the brain: this can lead to stroke, coma and death
• Heart failure: valvular dysfunction can cause the heart to become weaker and enlarged, potentially leading to arrhythmia (irregular heartbeat) or dysregulated heart electrical signals. Either of these can cause heart failure
• Aortic vessel rupture that leads to catastrophic bleeding and death
• Blindness

Ocular

Eye problems are also common in individuals with Marfan syndrome, they include:⁶

1. Ectopic lens: Marfan syndrome is one of the causes of Ectopia lentis or ectopic lens. These conditions refer to when the lens of the eye is dislocated and displaced from its normal site, resulting in reduced visual acuity
2. Cataract: cataracts cause the eye lens to become cloudy, preventing light from entering the eye properly and causing blurry or disturbed vision. It typically appears in patients in their 30’s
3. Retinal detachment: this serious complication can lead to permanent blindness
4. Myopia: the second most common eye problem, it means nearsightedness or difficulty seeing far away objects. It usually coexists with other eye symptoms

Other symptoms

Other symptoms of Marfan syndrome include:^7,8

• Stretch marks
• Lung problems
• Highly arched roof of the mouth
• Flat feet
• Enlargement of the covering of the brain and spine
• Obstructive sleep apnea

Diagnosis and screening

Clinical evaluation

Marfan syndrome is usually suspected when one or more of the symptoms appear in an individual and then they are referred to the doctor to try and investigate the cause. There are sets of criteria and scores put to help doctors to diagnose the disease, they use certain features like the presence of an aortic aneurysm or an ectopic lens. It can also be diagnosed on screening after identifying the syndrome in a family member.

Clinical evaluation involves taking a thorough history and performing clinical examinations to search for signs of organ involvement like:

• Sings of joint hypermobility
• Length and bone measurements
• Eye signs and visual acuity on eye examination
• Heart murmurs in cardiovascular system examination or signs of heart failure.
• Deformities
• Stretch marks on the skin

Imaging

Imaging tests used to diagnose Marfan syndrome include:

1. Echocardiography: enables doctors to assess the heart valve function and structure as well as to assess the Aortic root for any possible dilation or enlargement
2. CT and MRI scans: these scans are important for visualising the structure of blood vessels such as the aorta, and also the coverings of the spine and the brain

Genetic testing

This can be used to search for the gene mutations responsible for Marfan syndrome (FBN1) at any age - even before birth. Although genetic testing is not needed to diagnose the syndrome, it can be valuable in confirming a diagnosis.^3,9

Management

Marfan syndrome is not curable, and its management relies on controlling the symptoms and reducing the complications. It requires the collaboration of multiple specialties like ophthalmologists, cardiologists and surgeons as the symptoms involve different organ systems.

Medical management

1. Medication

Medication is needed to protect the heart and vessels. As heart disease is the most serious complication of Marfan syndrome, its prevention is vital to increase life expectancy.

Drugs prescribed to Marfan syndrome patients include:^10,11

• Beta-blockers: these reduce the stress on the heart and slow aortic enlargement
• Angiotensin receptor blockers: these reduce aortic dilation and protect the lung tissues
• Angiotensin‑converting enzyme inhibitor: this also slows aortic enlargement
• Statins: they lower the cholesterol level in the body and protect the blood vessels
• Tetracyclines: they prevent the rupture on an existing aneurysm

2. Anti-inflammatory drugs and pain medications

These help to relieve the discomfort in individuals with joint and muscle pain, and they can vary in their effect and strength depending on the severity of the symptoms.

Surgical management

Surgery is needed sometimes when other forms of treatment fail or when the symptoms become severe.

Examples for such surgeries are:

• Eye surgeries: includes removal of the dislocated lens (lensectomy) and insertion of a new artificial one and cataract surgery
• Orthopaedic surgeries: they are often performed to correct the deformities of the chest and spine
• Cardiovascular surgeries: to repair the aortic dilation or the valves, they can either elective or emergency like in the case of a ruptured aneurysm^3,11

Lifestyle modifications

Regular low-intensity exercise, like swimming, can help strengthen the heart and improve mental health. However, intense and high-intensity exercise should be avoided.^3,11

Others

• Glasses and contact lenses can be indicated to improve vision
• Braces can help to support the spine
• Physical and occupational therapy may also be required¹¹

Quality of life

People with Marfan syndrome often complain of fatigue and chronic pain throughout their life, and they are at a higher risk of quality of life impairment. Many aspects can be affected, such as personal life, relationships with family and friends, and work.^12,13

FAQs

Can I get Marfan syndrome from my friend?

No, Marfan syndrome doesn’t spread between people by any form of contact or vector. It is a genetic disease which is inherited from parents or acquired via genetic mutation. 

Is there a cure for Marfan syndrome?

There is currently no cure for Marfan syndrome. However, it is becoming more manageable with time.

Summary

Marfan syndrome is a genetic disease that can cause a multitude of diverse symptoms and health conditions. Consequently, it is capable of changing every aspect of the affected individual’s life. However, early detection, regular follow-ups, and good compliance with doctors’ instructions can grant people with Marfan syndrome a much better life.