Marfan syndrome is a hereditary disorder identified by the presence of connective tissue abnormalities. The key function of connective tissues is to support and offer a structure to help the body develop and flourish. Marfan syndrome causes different kinds of defects in connective tissues which prevent them from functioning effectively.
Connective tissues are present throughout the human body. Therefore, Marfan syndrome can result in malfunction of varied body systems such as the eyes, the nervous system, the skeleton, lungs, the blood vessels, and the heart.
Marfan syndrome can affect people from all age-groups including children, all ethnicities and races, and both the genders. The rate of incidence for Marfan syndrome in the United States is approximately 1 in every 5,000 individuals.
Symptoms of Marfan Syndrome
The characteristic signs and symptoms of Marfan syndrome vary from one affected person to another. Some patients may experience minor abnormalities, while others may elicit extreme symptoms.
Varied body systems may malfunction in Marfan syndrome patients in the below listed ways:
- The eyes: Nearly half the patients affected by Marfan syndrome elicit mild or severe displacement of the lenses in one or both the eyes. Such dislodgement may be noticeable as movement towards one side, or they may be placed higher or lower than normal. Different types of associated ocular abnormalities include glaucoma, shortsightedness, and cataracts. A serious complication of Marfan syndrome is retinal detachment.
- The nervous system: Dura is a membrane that occurs in the nervous system and contains fluid that surrounds the spinal cord and brain. The dura may stretch and wear as a Marfan syndrome patient ages. This leads to increased stress on the lower spine, which in turn causes the bones around the spinal cord to weaken, ultimately resulting in pain, numbness, and weakness in the legs.
- The skin:Most patients of Marfan syndrome tend to develop stretch marks on their skin, regardless of whether or not they have put on weight. These abnormal marks are harmless and can develop at any age. However, skin anomalies associated with Marfan syndrome can result in medical complications like inguinal and abdominal hernia.
- The skeleton:Individuals affected by Marfan syndrome are generally tall and slim. Most of them elicit loose joints. The size of their legs, arms, toes, and fingers may be disproportionate as compared to the rest of the body. The oral roof may arch leading to stacked teeth. Patients may also experience flat-feet, a long and contracted face, elevated or sunken chest, and defects of the spinal curvature.
- The cardiovascular system:A majority of Marfan syndrome patients experience cardiac and blood vessel anomalies. The condition can result in heart defects like aortic dilation, i.e., increased stretching and weakening of the aortic wall. This can elevate the risk to aortic tearing and other health complications, and even death of the patient. Presence of leaky cardiac valves may result in heart murmur. Severe cases of leaky heart valves can lead to palpitations, fatigue, and shortness of breath.
- The lungs: The lungs are typically not affected. When the harmful effects of Marfan syndrome affect the lungs, then the pulmonary air sacs extend and weaken, causing the lungs to collapse.
Causes of Marfan Syndrome
Marfan syndrome is caused due to the presence of errors or mutations in a gene which is responsible for passing instructions to a protein called fibrillin-1. This protein is a vital component of connective tissues. Marfan syndrome is a congenital condition, but may also be diagnosed later in life.
A majority of Marfan syndrome cases are caused due to passage of the genetic mutation from an affected parent to the child. A parent with Marfan syndrome carries a 50 percent risk of transferring the mutated gene to the newborn.
In rare cases, the specific gene may randomly develop errors at the time of maternal egg formation or development of the paternal sperm. An estimated 25 percent of Marfan syndrome cases are usually caused due to genetic defects which occur during conception.
It is important to note that the specific Marfan syndrome gene may undergo wide-ranging mutations in different patients. This means that the gene may experience varying degrees of mutations in different people, thereby leading to the development of Marfan syndrome with varying severity levels and different signs and symptoms.
Treatment of Marfan Syndrome
There is no known cure for Marfan syndrome. Treatment is aimed at managing the symptoms and taking steps to prevent complications. Therapy is dependent on the severity and nature of the disorder.
- Skeletal abnormalities: Most skeletal problems visible in people with Marfan syndrome can also be seen in the general population, and is treated in a similar manner.
- Concave chest: If a concave chest hampers the respiratory process in a child affected by Marfan syndrome, then doctors may correct the defect via surgery. A convex chest may also be corrected for cosmetic reasons.
- Scoliosis: Doctors may suggest the use of a custom-made back brace in adolescents and children to manage the spinal abnormalities associated with scoliosis. The brace has to be worn almost continuously till the spinal growth is complete. It may not straighten the spine curvature permanently, but can prevent it from worsening. Surgery may be recommended for correcting severe spinal anomalies.
- Cardiovascular abnormalities: The cardiovascular problems related to Marfan syndrome can be deadly. Hence, patients need to go for regular checkups. Cardiovascular complications may be treated in the below listed ways:.
- Surgical intervention: Doctors will recommend surgical intervention when there is severe enlargement of the aorta. The operation involves replacement of a part of aorta with a synthetic tube. This can aid in prevention of fatal rupture. Surgeons may also replace the aortic valve.
- Medicines: Even if the blood pressure is normal, physicians may recommend blood pressure lowering medications to help prevent aorta enlargement and to decrease the risk of dissection. Beta blockers are the commonly used drugs. In case of severe side effects, doctors may change the medication to other drugs such as calcium channel blockers or ACE inhibitors. Adults and children are given the same drugs.
- Ocular abnormalities: Eye problems are common in Marfan syndrome patients. Hence, annual eye exams are essential. Varied eye problems may be treated in the following ways:
- Cataracts can be treated with surgery. Oral medicines, eye drops, and surgery can help prevent further damage by glaucoma.
- Dislocated lens can be corrected with the use of contact lenses, glasses, or via intraocular lens implant. Surgical procedure can repair retinal detachment
- Lung and nervous system abnormalities: Patients of Marfan syndrome should avoid smoking as their lungs are at increased risk to developing complications. Inflammation of dura can be controlled with medications.
Marfan Syndrome Life Expectancy
Patients who have Marfan Syndrome have witnessed a dramatic rise in their life expectancy. According to the research papers by the American Journal of Cardiology (January 1995), there has been a 25 percent increase in life expectancy since 1972. The study shows that the average life expectancy of Marfan Syndrome patients has increased from 41 to 70 years for men and from 49 years to 74 for women.
Weston on November 25, 2013: