What Is Marfan Syndrome

• Long and thin fingers, toes, and limbs
• Skinny and tall body type
• Bent spine
• A flat foot
• Crowded teeth

Are these peculiar symptoms familiar to you or have you ever witnessed someone presenting them? Marfan Syndrome is linked to these symptoms. For a deeper understanding of this inherited issue, let's look closer.

The connective tissue that supports the body and its organs is impacted by a hereditary condition known as Marfan syndrome. 

Various consequences such as heart disease, bone deformities such as a curved spine, eye conditions, crooked teeth, and collapsing lungs can be treated or managed.

It is challenging to diagnose in children, and identifying it in a young child is unusual. This is because the majority of indications and symptoms typically do not manifest until late childhood or the teenage years. This article helps to dispel doubt by providing more detailed information.

Overview

Marfan syndrome(MFS) is a disease that affects your connective tissue. Your body is held together by connective tissue, which also supports numerous structures all around it.¹

The severity, onset time, and rate of advancement of MFs symptoms vary greatly. Since connective tissue covers the entire body, MFScan has an impact on a variety of organ systems, leading to abnormalities in:

• Heart
• Blood vessels
• Eyes
• Bones 
• Joints

Two of marfan syndrome's key characteristics

A mutation in the gene that codes for fibrillin and elastic fibre structure, a crucial part of connective tissue, causes Marfan syndrome. The name of this gene is FBN1 or fibrillin-1. Fibrillin is produced abnormally due to gene abnormality, allowing affected body parts to stretch unnaturally in response to stress of any kind.

Some bones also lengthen more than they ought to as a result of the faulty fibrillin gene. Because their arms and legs develop longer than usual, a person with MFS may be tall.³ 

MFS is typically inherited. The pattern is "autosomal dominant" meaning it can be passed down from just one parent with MFS and affects both men and women equally. A new gene abnormality arises from an unknown origin in 25% of cases. Because not everyone with MFS experiences the same symptoms and because some people may experience worse symptoms than others, MFS is sometimes known as a hereditary illness with "variable expression." 

Since MFS is primarily hereditary, having a parent with the disorder is the sole recognized risk factor. A MFSsufferer has a 50% probability of passing this illness on to each of their offspring. It is a rare condition that affects 1 in 5,000 individuals. MFS is a congenital condition. Yet it's possible that you won't get a diagnosis until you're a teen or a young adult.^1,8 

Signs and symptoms of MFS

Physical Characteristics include:

• An extended thin face
• A tall, lean physique shape
• Excessively long fingers, toes, arms, and legs in relation to the rest of your body
• Curved spine (Scoliosis)
• Joints are fragile and liable to dislocation
• Wide feet
• Breastbone (sternum) that may bulge or be indented

Dental issues:

• Crammed teeth
• Unlikely to be narrow and more arched palate (roof of the mouth)

Eye issues:

• Subluxation of the lens (the lens of the eye moves away from its typical position)
• Cataract
• Nearsightedness (blurring of objects far away) 
• A distinction in the eye's shape
• Retinal separation
• Glaucoma

Cardiovascular and blood vessel issues:

• The aortic aneurysm: A bulge in the blood artery wall could result from the aorta weakening and stretching (an aneurysm). Patients with Marfan may have previously experienced intracranial (within the skull) haemorrhage due to a burst brain aneurysm.
• Aortic rupture: The aortic valve may leak as a result of the aorta being stretched, which could result in a sudden rupture of either the layers in the aorta wall (aortic dissection). Both aortic aneurysm and dissection represent dangers to life.
• Cardiac valve issues: A mitral valve prolapse or a leak in the valve that controls blood flow from the heart into the aorta (aortic valve regurgitation).
• Enlarged heart: The heart muscle may expand and weaken over time, leading to cardiomyopathy. Heart failure could develop as a result of the illness.Irregular heartbeat: Breathing difficulties, exhaustion, and an irregular pulse that feels like extra or skipped beats can all result from leaks in these valves (palpitations)

   Lungs alteration:

• Asthma
• Emphysema
• Chronic obstructive pulmonary disease (COPD)
• Bronchitis
• Pneumonia
• Pneumothorax

Skin Alterations:

• loses its ability to stretch, leading to the development of stretch marks ^1,4

Management and treatment for MFS

The prevention of MFS has not yet been established by research. You'll need to have routine examinations to look for indications that the disease-related harm is advancing. Today, most people with MFScan expect a relatively typical life expectancy with regular monitoring and modern treatments. 

Diagnosis: 

A group of medical professionals may work together to confirm the diagnosis and create a treatment strategy. Testing Includes physical examination, family background, eye examination, echocardiogram and genetic analysis: A 29-gene genetic test is conducted to check for mutations linked to MFS and other genetic disorders that have a comparable impact on the body. An in-office blood test or a saliva test kit can be used for genetic testing. ^7,9   

After establishing the diagnosis, it is necessary to seek advice and follow-up from a healthcare professional.

Although MFS has no known treatment, it can prevent the development of specific consequences.      

Medications

Beta-blockers help your heart relax and lessen the rate and force of your heartbeat as well as the pressure inside your arteries. As a result, the aorta doesn't grow as quickly or as much as before. The use of beta-blockers should start early. 

Angiotensin receptor blockers (ARBs): High blood pressure and heart failure are both treated with ARBs.^1,5

Surgery

Aortic repair: If the aorta is more than about 50 mm (2 inches) in diameter or is dilating rapidly, your doctor may prescribe a procedure to replace part of the aorta with a tube made of synthetic material. This can help prevent a life-threatening rupture. Aortic valve replacement may also be necessary.

Scoliosis therapy: A spine specialist should be consulted when there is significant scoliosis. In some circumstances, bracing and surgery are required.

Breastbone repairs: The appearance of a sunken or protruding breastbone can be improved surgically.

Eye operations: Your cloudy lens can be replaced with an artificial lens if you have cataracts. ⁵

Physical therapy

Physical therapy includes stretching, strengthening, therapeutic exercises and pain management modalities. In particular, patients should be educated and advised about the dangers of strength and contact sports for their cardiovascular system.⁶

Support and coping

Adults may be concerned about how the illness may impact their identity, relationships, and professions. Also, they could be concerned about transferring the flawed gene to their offspring. Regular counselling and support groups may be beneficial.³

Summary

Knowing that you have a genetic disorder like MFS can be worrying. The disease can progress and present numerous concerns, so it's recommended to get a diagnosis when you're young. Consider genetic screening to further understand the disease and your risk of passing it on to your children. It's crucial to receive medical attention from a doctor with experience. Obtaining precise information on the disease's cautious management can improve the prognosis and lengthen a patient's life.