What is Marfan syndrome?
Marfan syndrome is a genetic disorder which affects the body’s connective tissue.
Connective tissues play a vital role in helping growth and development.
It also holds together all the body’s cells, tissues and organs together.
Since connective tissues exist throughout the body, Marfan syndrome can affect several parts of the body.
Mutations in the genes that synthesize protein fibrillin-1 results in increased levels of TGF-β(protein transforming growth factor beta) which affects the connective tissues throughout the body, leading to Marfan syndrome.
What is the life expectancy of a person with Marfan syndrome?
Although Marfan syndrome is a lifelong condition, its outlook has been improving in recent times.
During the 1970s, the life expectancy of an individual with Marfan syndrome was two-thirds that of a normal person.
However, with improvements in diagnosis and treatment, individuals with Marfan syndrome now have a life expectancy on par with an average person.
How does Marfan syndrome affect the body?
Apart from playing a vital role in growth and development, the connective tissues hold the body together.
Since it is found throughout the body, Marfan syndrome affects many parts of the body including the cardiovascular system, skeletal system, eyes, lungs, and skin.
Does Marfan syndrome affect the brain?
The brain and the spine are surrounded by a fluid called “dura” which is composed of connective tissue.
Marfan syndrome causes the enlargement of this dural membrane, causing dural ectasia which affects more than 60% of Marfan syndrome patients.
Although dural ectasia doesn’t cause any issues, it might sometimes cause headache, back, abdominal and leg pain.
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How does Marfan syndrome affect the eye?
Eye problems such as astigmatism and myopia occur commonly in Marfan syndrome patients.
And more than 50% of them suffer from ectopia lentis which occurs as a result of the dislocation of the eye’s lens that helps focus light rays on the retina.
Ectopia lentis is also a key symptom of Marfan syndrome and is the first sign of the disorder.
Other eye problems affecting Marfan syndrome patients include glaucoma, strabismus, early cataract, retinal detachment and thinning of the cornea.
Does Marfan syndrome increase the risk of pneumothorax?
Pulmonary complications are quite common among many people with Marfan syndrome, and pneumothorax is one of the most common ones.
It is also known as “collapsed lung” which is the detachment of the lungs from the chest wall.
In Marfan syndrome patients, pneumothorax can be recurrent, seen in both the lungs and can also be associated with emphysema.
Can someone with Marfan syndrome gain weight?
Doctors do not understand why individuals with this condition find it difficult to gain weight.
They cannot be benefited from any particular diet, dietary supplement or weight lifting programs.
Since it puts too much strain on the heart and aorta, weight lifting is not a safe activity for people with Marfan syndrome.
However, with age, some people with Marfan syndrome do put on more weight.
Therefore, developing healthy eating habits is important for Marfan syndrome patients even though it may not make them gain weight.
How is Marfan syndrome diagnosed?
Being a serious, life-threatening condition, an early and accurate diagnosis is very important for Marfan syndrome.
Doctors experienced with connective tissue conditions make several exams of different parts of the body to diagnose the condition.
Thorough physical exam, detailed medical and family history, and the following tests are taken into account to diagnose Marfan syndrome:
- Eye exam
- CT scan or MRI scans of the lower back
When all the tests mentioned above fail to diagnose Marfan syndrome, genetic testing may be helpful.
Especially for those with a family history of the condition, genetic tests can rule out or confirm the diagnosis.
Is there genetic testing for the diagnosis of Marfan syndrome?
Genetic testing which is now improved and affordable can reveal mutations in the fibrillin-1 (FBN1) and other related genes that are known to be responsible for Marfan syndrome.
If you are suspecting a diagnosis when there is no family history, a genetic test can find out if you possess a mutated FBN1 gene and if that mutation is linked to Marfan syndrome or not.
However, to confirm a diagnosis, a combination of genetic testing along with the presence of clinical features should be considered.
What is the cause of Marfan syndrome?
The FBN1 gene instructs the synthesis of the protein fibrillin-1.
When this protein binds to other fibrillin-1 proteins and molecules, it forms microfibrils, a threadlike filament.
These microfibrils are those that offer flexibility and strength to the connective tissues.
When this FBN1 gene gets mutated, it can cause a reduction in the amount of functional fibrillin-1, leading to lowered microfibril formation.
This results in decreased elasticity in tissues, leading to instability and overgrowth of tissues in Marfan syndrome.
What are the symptoms of Marfan syndrome?
Even amongst the individuals of the same family, signs, and symptoms of Marfan syndrome vary.
While some people experience mild symptoms, others develop life-threatening complications.
The most common features of this condition include:
- Tall, slender build
- Long arms, legs, and fingers that are disproportionate
- Breastbone protruding outward or dipping inwards
- Flat feet
- Heart murmurs
- Nearsightedness at its extreme
- Abnormally curved spine
- Crowded teeth along with a high, arched palate
How is Marfan syndrome treated?
Although there isn't any cure for Marfan syndrome, there are treatments that focus on preventing the complications of the condition.
Regular monitoring and current treatments have improved the life expectancies of individuals with Marfan syndrome.
Treatment options include:
- Medications that are prescribed for lowering blood pressure to prevent the enlargement of aorta and thereby reducing the risk of rupturing and dissection.
- Surgical procedures such as aortic repair, scoliosis treatment, breastbone corrections, and eye surgeries
- Glasses or contact lenses to correct the dislocated lens in the eyes.
- Lifestyle changes and home remedies like avoiding competitive sports, weightlifting and performing less intense activities like bowling, brisk walking or golf.
- Practical supports like contact lenses, scoliosis braces, dental works, and suitable clothes
- Treating aortic diseases in patients with Marfan
- Noninvasive treatment for aortic diseases includes β-blockers of an adequate dosage earlier in the disease's course to gain potential benefits.
- Surgical treatment of aortic disease includes prophylactic surgery, composite valve graft repair, valve-sparing aortic repair, and Endovascular stent grafting.
Is Marfan syndrome more common in males or females?
The risk of passing the abnormal gene from a parent with Marfan syndrome to their offspring is the same for both genders.
Throughout the world, Marfan syndrome affects both males and females in equal numbers, without any ethnic predispositions.
Can Marfan syndrome skip a generation?
The inheritance of Marfan syndrome occurs in an autosomal dominant manner, and hence it doesn't skip any generations.
Symptoms show up with the presence of just a single copy of the mutated gene.
MTHFR gene and Marfan syndrome
Researchers from the University of Florence have reported the possible role of a mutation in the MTHFR gene in the cardiac manifestations of Marfan syndrome.
They have also found a higher prevalence of homozygote with the C677T MTHFR polymorphism.
Is Marfan syndrome accompanied by changes in homocysteine levels?
Homocysteine is responsible for the pathogenesis of the vascular changes in Marfan syndrome patients.
Higher levels of homocysteine have been reported to cause severe vascular changes including aortic dissection in Marfan syndrome patients with the most severe vascular changes.
Renowned personalities who have been diagnosed with Marfan syndrome
- Osama Bin Laden
- Mary Queen of Scots
- Abraham Lincoln
- Vincent Schiavelli (American Actor)
- Jonathan Larson (American playwright and Composer)
- John Taverner (British Music composer)
- Bradford Cox (Singer, Lyricist, musician, and actor)
Can people suffering from Marfan syndrome get pregnant?
Family planning decisions can be hard and quite emotional for couples affected by genetic disorders such as Marfan syndrome.
Pregnancy constitutes to added risks to women with Marfan syndrome due to the stress on the heart and blood vessels.
It is essential that women with this condition discuss the possible pregnancy risks with their doctors before planning to get pregnant.
Although there is no clarity if women with Marfan syndrome can or cannot tolerate pregnancy, Marfan syndrome patients should consider these aspects before deciding:
- Pregnancy in a woman with Marfan syndrome is considered "high risk" and an echocardiogram is recommended every trimester.
- Women with major heart valve issues or aortic disease might have serious aortic complications since the aortic diameter might exceed the normal condition by more than 4.0 cm.
- Medications used to treat Marfan syndrome cannot be taken during pregnancy since it can cause risks of congenital disabilities as well as fetal loss.
Does Marfan syndrome cause infertility?
Mostly associated with abnormalities in connective tissues, primarily affecting the ligaments, bones, cardiovascular system, lungs, eyes and skin, Marfan syndrome doesn't cause infertility.
However, the condition can be passed on to the offspring from either of the parents.
Can someone with Marfan be active in sports?
Although individuals with Marfan syndrome benefit from regular physical activities, it is recommended that they stick to low-intensity and low-impact activities to prevent undue stress on the aorta.
They should also refrain from taking part in strenuous activities such as weightlifting and competitive sports due to this reason.
How to manage Marfan syndrome through natural ways?
Some natural strategies to manage Marfan syndrome include:
- Avoiding stress on the heart by avoiding strenuous physical activity, following a heart-healthy diet.
- Optimize vision by taking yearly eye exams, correcting vision using glasses/contact lenses and protecting the eye during activities.
- Take care of your teeth by following good dental hygiene practices,
- Get emotional support via cognitive behavioral therapy
- Quit smoking to avoid lung problems. Plan pregnancy carefully after consulting a genetic counselor.
Diet recommendations for Marfan’s Syndrome
Some dietary tips for managing the symptoms of Marfan syndrome:
Include natural anticoagulants such as turmeric, cinnamon, fish and cayenne pepper to lower the viscosity of your blood to minimize the risk of blood clots from forming in the aorta.
Consider foods such as dark leafy greens, lean meat, garlic, fruits and fish to boost your blood vessels and strengthen them.
Consume vitamin-A rich, eyesight promoting foods such as eggs, dairy products, and carrots.
What everyday variables does Marfan syndrome affect?
Physical fitness and sports can be an issue since strenuous activities should be avoided among individuals with Marfan syndrome.
They can also face problems due to fatigue.
They cannot smoke since it destroys the protein elastin.
Family planning can also be a strenuous task due to all the potential risks involved.
Is Marfan syndrome painful?
Dural ectasia which is characteristic of Marfan syndrome can cause low back pain, leg pain, abdominal pain, and headaches.
Hip pain is also common since Marfan syndrome patients have deeper hip sockets.
How’s pectus carinatum treated?
Pectus carinatum can be treated via non-surgical bracing and surgery.
Dynamic compression braces are comfortable to wear and avoid the breakdown of skin that occurs with traditional ones.
Can Marfan syndrome be detected before birth?
Prenatal testing done between 10 and 12 weeks of pregnancy can detect Marfan syndrome.
Amniocentesis done between 16 and 18 weeks of pregnancy can also detect Marfan syndrome.
While these tests can find out if the child possesses the faulty gene, they cannot indicate the severity of the condition.