What is Marfan Syndrome? Symptoms, Diagnosis, and Treatment Methods

Marfan Syndrome

Marfan syndrome is a genetic disorder that affects the connective tissue. Connective tissue acts as the body's glue, holding organs together and providing flexibility and strength. In Marfan syndrome, this connective tissue is not strong enough. The cause is a genetic change. The most common is a mutation in a gene called FBN1. The FBN1 gene is responsible for the production of a protein called fibrillin-1, which is critical for the strength of connective tissue. Marfan syndrome is often hereditary, meaning it can be passed from a parent to a child. Rarely, it can also occur due to a completely new genetic change. It is seen in approximately one in 5,000 to 10,000 people in the population. It occurs at an equal rate in both women and men.

What is Marfan Syndrome?

Marfan syndrome is a genetically transmitted disease that affects the body's connective tissue. Connective tissue is one of the fundamental building blocks that provides structural support to almost every organ, from bones to the heart, blood vessels to the eyes, and holds the body together. In Marfan syndrome, a protein that provides the strength and flexibility of this tissue cannot be produced as it should be. As a result, bones, joints, eyes, and especially the cardiovascular system—vital organs—become weaker and more sensitive than normal. Marfan syndrome is congenital and is a lifelong condition. The severity of the disease can vary greatly from person to person. While it manifests with obvious physical features in some, it may go unnoticed for years in others. Its effects on the heart and major blood vessels pose the most significant risks in terms of quality and duration of life.

What Are the Symptoms of Marfan Syndrome?

One of the most striking aspects of Marfan syndrome is that its symptoms vary greatly from person to person. In some individuals, symptoms are mild and difficult to notice, while in others, very obvious signs can be observed from birth. Marfan syndrome can affect many systems of the body. It most commonly causes problems in the skeletal system, cardiovascular system, and eyes. Often, the patient and their relatives first notice differences in body structure or the disproportionate length of the limbs. However, the most serious consequences of the disease usually occur in internal organs and require careful follow-up. Typical symptoms of Marfan syndrome include:

Tall and thin body structure: People with Marfan syndrome are usually taller than their peers. Arms, legs, and fingers may be disproportionately long.

Long fingers (arachnodactyly): In Marfan syndrome, the hands are usually long, thin, and have a spider-like appearance, which is defined as “arachnodactyly.” The Marfan syndrome thumb sign is a clinical finding that becomes evident when the thumb protrudes beyond the edge of a closed fist.

Chest bone deformities: The rib cage may be sunken (pectus excavatum) or protruding (pectus carinatum).

Curvature of the spine (scoliosis): Sideways curvature of the spine is a common finding.

Flat feet: There may be a tendency for the foot structure to flatten and turn inward.

Loose joints: Joint ligaments may be more flexible than normal; therefore, looseness and sometimes pain may be experienced in the joints.

Eye problems: The most prominent eye finding is the displacement of the lens (ectopia lentis). Among Marfan syndrome eye findings, lens subluxation (displacement of the lens) is one of the most common symptoms.

Heart and vascular problems: Aortic dilation, problems with the aortic valve, and looseness in heart valves can be seen. These are the most serious and potentially life-threatening symptoms. Patients with Marfan syndrome may carry serious cardiovascular risks such as heart valve problems and aortic dilation.

High palate and dental irregularities: The upper palate may be high and narrow, and the alignment of the teeth may be impaired.

Stretch marks on the skin: Stretch marks may form on the skin, especially during periods of rapid growth.

Lung and respiratory problems: The risk of shortness of breath, lung collapse, or pneumothorax may increase.

Head structure changes: The Marfan syndrome head structure is usually characterized by craniofacial features such as a long face, narrow jaw, and high palate.

How Does Marfan Syndrome Develop?

At the center of the development of Marfan syndrome is a gene called FBN1. The FBN1 gene enables the production of a very important protein in the body called fibrillin-1. Fibrillin-1 helps maintain the flexibility, strength, and integrity of connective tissue. In Marfan syndrome, as a result of a mutation in the FBN1 gene (a change in the genetic code), fibrillin-1 is either deficient or not produced as it should be. In this case, the connective tissue in the body loses its former strength. This weakness is more pronounced in tissues that grow rapidly or are constantly in motion. Marfan syndrome is an autosomal dominant disease. This means there is a 50% chance of passing it on to children from a parent carrying the diseased gene. However, it is not always hereditary. Sometimes it can occur with a new mutation that occurs randomly in the genes without the disease being present in the mother or father. Since connective tissue is found almost everywhere in the body, the effects of Marfan syndrome are not limited to a single organ. Disproportions in body structure, lens displacement in the eye, curvatures in the spine, and most importantly, risky changes in the heart and vascular system can occur.

How is Marfan Syndrome Diagnosed?

Marfan syndrome is not a disease that can be diagnosed by looking at a single symptom because this syndrome presents with findings that appear in different systems of the body and to varying degrees. Marfan syndrome diagnostic criteria cover many areas such as the skeletal, cardiovascular, and ocular systems. Sometimes certain features in physical appearance attract attention, while at other times, changes detected in internal organs such as the heart or eyes may be the first sign. A comprehensive approach is required for an accurate diagnosis. The Marfan syndrome test is performed in conjunction with genetic analysis and systemic evaluations. The FBN1 gene mutation is the most common.

The doctor inquires about the patient's past health problems and similar conditions in their family, as Marfan syndrome often shows genetic transmission. If there are similar symptoms in the family or a diagnosed patient, the probability of diagnosis increases. Body structure, arms, legs, fingers, and the rib cage are evaluated in detail. Findings such as long and thin limbs, obvious chest deformities, and spinal curvature are reviewed. In a detailed examination performed by an ophthalmologist, it is investigated whether the lens of the eye is displaced (ectopia lentis) and whether there is any other structural defect in the eye.

This is one of the most critical steps. The heart valves, aorta, and major blood vessels are examined with echocardiography (heart ultrasound). It is carefully evaluated whether there is dilation in the aorta and whether there is looseness or prolapse in the valves. Other tests such as ECG can be performed if necessary. Skeletal system findings such as the spine, rib cage, foot, and hand structure; and intraoral features such as teeth and palate are also taken into account.

At the same time, the internationally accepted Ghent criteria are used to diagnose Marfan syndrome. These criteria allow for a holistic evaluation of findings such as the patient's family history, aortic root diameter, and lens displacement. Based on the sum of the criteria, it is determined whether a definitive diagnosis can be made. Sometimes, in cases where the diagnosis is uncertain or to evaluate the risk of other individuals in the family, genetic tests can be performed. Detecting a mutation in the FBN1 gene can confirm the diagnosis. However, it should be emphasized that genetic tests are not always mandatory and clinical findings are at the forefront.

How is Marfan Syndrome Treated?

The treatment applied today for Marfan syndrome cannot completely eliminate the disease. However, it aims to improve the person's quality of life and prevent potential complications. The treatment approach is shaped according to which organs and systems the disease affects. Especially close follow-up of the heart and vascular system is life-saving.

Dilation in the aorta is monitored with regular check-ups, and surgical intervention is planned when it reaches a risky size. Similarly, both medical and surgical treatments can be applied for problems in the heart valves. Eye examinations are performed regularly; vision problems can be corrected with glasses or lenses, and surgery can be resorted to if necessary. For problems related to the skeletal system, follow-up by orthopedists, physical therapy, and sometimes surgical treatment may be required. It is recommended that individuals with Marfan syndrome avoid heavy and sudden movements and choose sports and exercise under doctor supervision. In all these treatment and follow-up processes, it is extremely important for the person to be supported psychologically and to ensure their adaptation to social life. In short, the goal in the treatment of Marfan syndrome is to make the patient feel safe, extend their lifespan, and minimize potential risks. Therefore, treatment is a team effort that lasts a lifetime and involves different branches working together.

Frequently Asked Questions

Since Marfan syndrome is a genetic disease, it is not possible to cure it completely today. That is, the genetic change that is the root cause of the disease cannot be eliminated. However, with medical monitoring and appropriate treatment, it is possible to prevent the problems caused by the disease and keep the quality of life high. Thanks to regular doctor check-ups, cardiovascular and eye examinations, necessary medications, and surgical treatment when necessary, the risks of Marfan syndrome can be greatly reduced. Marfan syndrome is a genetically transmitted disease. If one of the parents has this syndrome, the probability of it being seen in the child is around 50 percent. For this reason, it is recommended that those with a history of Marfan syndrome in their family receive genetic counseling before having children. Still, although rare, Marfan syndrome can develop as a result of a new genetic change even when there is no history of the disease in the family. Marfan syndrome has no direct effect on mental development or intelligence. Individuals with Marfan syndrome have the same potential in social and academic life. Since the areas affected by the disease are mostly physical and structural, no limitation regarding intelligence and intellectual capacity is expected. In Marfan syndrome, the body structure is usually tall and thin; metabolism can also be fast in some individuals. This can make it difficult to gain weight. However, this does not mean that individuals with Marfan syndrome cannot gain weight at all. It is possible to gain weight healthily with a balanced and adequate diet, regular follow-up, and personalized recommendations. Getting support from a dietitian during this process can be beneficial. Marfan syndrome is a completely genetic disease. At its core lies a change in the FBN1 gene. This change can be passed from generation to generation or, rarely, appear in a person for the first time as a result of a new mutation. If Marfan syndrome is suspected or has been diagnosed, one should first apply to internal medicine (internal diseases), genetic diseases, or, if the patient is a child/young adult, to the pediatric genetics unit. After diagnosis, regular support is received from relevant branches such as cardiology, cardiovascular surgery, orthopedics, and ophthalmology for the different systems affected by the disease. The most commonly used method for diagnosis in Marfan syndrome is the Ghent criteria. In these criteria, aortic root dilation, lens displacement (ectopia lentis), skeletal system findings, family history of Marfan syndrome, and genetic test results are evaluated together. Compatibility of clinical findings and family history is a guide in making a definitive diagnosis. If necessary, genetic analysis can also be performed to confirm the diagnosis.

Early Diagnosis Saves Lives in Marfan Syndrome

Marfan syndrome is a genetic disease that can pose serious risks, especially to the cardiovascular system. Thanks to early diagnosis and regular follow-up, these risks can be largely controlled.

If you or a relative of yours is suspected of having Marfan syndrome, you can get support from our expert Internal Medicine (Internal Diseases) physicians and apply for a detailed evaluation.

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