What is Marfan Syndrome ?

Marfan’s syndrome is a genetic disorder which mainly affects the connective tissues leading to abnormalities of eyes, musculoskeletal system and cardiovascular system. Named after Antoine Marfan, a French pediatrician, the syndrome is characterized by joint flexibility, bone elongation, myopia, glaucoma, retinal detachment, early cataracts and lens displacement from the pupil’s center.

Marfan Syndrome Facts

Marfan syndrome is a heritable disorder which occurs due to a chromosome 15q21.1 disorder. This affects fibrillin production which is necessary for the production of connective tissues. This syndrome affects adults and children alike and irrespective of genders, races or ethnic backgrounds. It affects various body systems including skeleton, nervous system, eyes, skin, lungs, heart and blood vessels. It is considered as a common genetic disorder affecting one in every 3000-5000 people.

Marfan Syndrome Symptoms

Different people are affected by Marfan syndrome in different ways. The severity ranges from mild to severe and in most cases, it increases with an increase in age. The various Marfan syndrome stigmata identified are given below:

• Skeletal abnormalities like long bones, long legs, long toes, long arms, long fingers (spider-like), loose joints, flat feet, protruding sternum, indented sternum, narrow face and scoliosis (curvature of spine).
• Eye abnormalities including lens dislocation, lens abnormality and Myopia.
• Tallness and Thinness.
• Heart abnormalities like heart murmur, enlarged aorta, abnormal valve motion, fatigue, palpitations, aortic dilation and shortness of breath.
• Problems affecting the Nervous system including dural ectasia, leg pain, leg numbness, leg weakness and radiated abdominal pain.
• In some cases, breathing problems are noticed. These include snoring, sleep apnea and other sleep-related breathing disorders.
• Stretch marks and other similar skin abnormalities.
• In addition to these, there are various other symptoms too like mitral valve prolapse, joint laxity, Kyphosis, joint hypermobility, arachnodactyly, pigeon chest, aortic dilatation, dislocated eye-lens, dissecting aneurysms of aorta and reduced muscle tone.

Marfan Syndrome Causes

Marfan syndrome is an inherited disease even though it is not usually diagnosed until a later stage in life. It occurs due to a genetic mutation involving the gene determining the structure of fibrillin-1. This shows how Marfan’s syndrome and connective tissue are associated as this protein, fibrillin-1, is an important part of connective tissue.

The chances of a child inheriting the syndrome from an affected parent are 50%. In some cases a new genetic mutation causes sperm formation or egg cells formation. This can lead to development of Marfan’s syndrome even if none of the parents have the disease. However, these types of cases are rarely seen.

Even though in every individual affected by Marfan syndrome the same gene is found defective, the genetic changes have been found to differ in various families with varying characteristics and degree. This means the defective gene can be found in different patterns in different individuals. This phenomenon is termed in general as variable expression. However, the reason for this varying expression of Marfan syndrome characteristics is yet to be discovered.

Marfan syndrome Diagnosis

Sadly, there isn’t any specific test or laboratory methods for diagnosing Marfan syndrome. However, a geneticist or doctor can identify the condition by close observation of various related symptoms and complete medical history of the patient. This can include the following:

• A detailed physical examination. This includes evaluating the skeletal frame, a ratio of leg/arm size to trunk size.
• Eye examination which includes a ‘slit lamp’ evaluation.
• Study of the medical history of the family members who may have the syndrome or who experienced symptoms associated with the disorder like an early, heart-related death with unknown reasons.
• Various cardio tests like echocardiogram too are helpful in diagnosing a suspected case of Marfan syndrome.
• Genetic analysis is also useful but this is time consuming and does not usually provide additional information.

Marfan syndrome Prognosis

The life expectancy for Marfan syndrome patients is usually normal but adequate medical care is needed lifelong for the condition. An early diagnosis of the condition can help improve the quality of treatment for individuals with the syndrome and can thus lengthen the lifespan. An earlier intervention helps prevent any further complications. Appropriate management makes the Marfan syndrome life expectancy similar to that of a normal healthy person.

Some of the complications associated with Marfan syndrome include aortic rupture, sudden death, hemorrhage, myopia, abdominal hernia, inguinal hernia, glaucoma, cataracts, emphysema, spontaneous pneumothorax, dural ectasia and retinal detachment.

Marfan Syndrome Treatment

Till date, no cure has been found for Marfan’s syndrome as scientists have yet to identify the particular gene that undergoes mutation leading to this disorder. This is why the treatment for Marfan syndrome varies widely and is carried out only to minimize or prevent further complications associated with the disorder. The treatment depends on the individual systems of the patient that are affected by the syndrome.

Skeletal System

Patients with the syndrome should be evaluated periodically to note any changes in their spine or breast bone (sternum). Serious deformity may lead to disfiguring and affected lungs, heart and growth rate.

Lungs

Individuals diagnosed with Marfan syndrome should avoid smoking as it may worsen the condition of lungs. The doctor should be consulted for treating problems of heavy breathing while sleeping.

Eyes

Eyeglasses or contact lenses can be used to reduce the various eye problems associated with the syndrome. Regular eye examinations are necessary for patients with the disorder.

Nervous System

Medications are advised for problems related to nervous system such as the swelling of spinal cord’s covering.

Mental Health

Adjustments in lifestyles are needed for patients with the disorder to cope with various emotional, financial and social stresses.

Heart and Blood Vessels

Patients with problems related to heart and blood vessels are advised to use MAI necklaces or bracelets. Extreme care is required to prevent inflammation of valves and heart cavity.

Diet

A balanced diet plays a major role in maintaining a healthy lifestyle as there isn’t any vitamin or dietary supplement that can be helpful for fighting Marfan syndrome.

Pictures of Marfan Syndrome

Picture 1 :  Marfan Syndrome Inheritance

Image source : heart.org.in

Picture 2 : Marfan Syndrome Hands

Image source : wokay.com

Picture 3:  Pictures of Dilation of Aorta, Arachnodactyly and Pectus excavatum

Image source : nlm.nih.gov

Picture 4 : Marfan Syndrome Chest

Image source : cidpusa.org

Marfan Syndrome and Pregnancy

Pregnant women suffering from Marfan syndrome should be particularly careful as the disorder can lead to excessive stress on the body and more so, on their heart. Women planning for a pregnancy should follow the instructions of obstetricians and specialists in inherited disorders like Marfan syndrome. Even though Marfan syndrome patients can go ahead if they are planning for a child, the pregnancy period should be considered as a risky one and the necessary precautions should be carefully followed.

Famous People with Marfan Syndrome

Marfan syndrome is estimated to affect one individual in 3000-5000 people. Nearly 50,000 people affected with the syndrome are found in United States alone making it one among the common inheritable disorders. Some famous people have also been reported to be affected with the syndrome including the following:

• Abraham Lincoln – President of United States of America from 1960 to 1965.
• Niccolo Paganini – Famous composer, guitarist and violinist from Italy.
• Mary Queen of Scots – Ruler of Scotland from 1542 to 1567.
• Vincent Schiavelli – Television star and Hollywood actor.
• Flo Hyman – American volleyball player. She also was an Olympic silver medalist.
• Sergei Rachmaninoff – Russian composer, conductor and pianist.

References

http://www.mayoclinic.com/health/marfan-syndrome/DS00540

http://en.wikipedia.org/wiki/Marfan_syndrome

http://emedicine.medscape.com/article/946315-overview

Also Read:

• Klinefelter syndrome
• Cornelia de Lange Syndrome
• Noonan Syndrome
• CHARGE Syndrome
• Ramsay Hunt Syndrome

by Dr John on 02. Apr, 2011 in Syndromes