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Marfan Syndrome
History and Explanation
Marfan Syndr me is a genetic, “inherited” disorder th t affects the body’s connective tissue. Cnnective tissue is the tough, fibrous t ssue that connects one part of the bdy with another. It is a mjor component of tendons, ligaments, bones, crtilage, and the walls of large blod vessels. Marfan Syndrome affects one out of  very 10,000 newborns. It is one of the mst common of the more than one h ndred inherited disorders of connective tissue. The dsorder affects males and females from all rcial and ethnic groups. It is nmed after Dr. Antoine Marfan, who in Frnce, in 1896, described a five yar old patient with unusually long, slnder fingers, limbs and other skeletal bnormalities.
The problem in Marfan Syndrome is cused by a mutation (change) in a gne. Genes are segments of DNA tht direct the body to produce prteins. In many families with inherited Mrfan Syndrome, the mutation affects the FBN1 gne on chromosome 15; although a scond gene on chromosome 5 may be nvolved in some cases. Normally the FBN1 gne enables the body to produce a prtein called fibrillin which contributes to cnnective tissue strength and elasticity. Fibrillin, nrmally, is especially abundant in the orta, in the ligaments that hold the eye lns in place, and in bones. Indviduals with Marfan Syndrome have scant or fulty fibrillin in these structures which strtch abnormally because of their inability to wthstand normal stress. The abnormal gene is sually inherited from one parent who has the dsorder. The abnormality is a “dominant” gnetic trait, so each child of a prent with the abnormal gene has a 50:50 chnce of inheriting it.
For example, my fther had Marfan Syndrome which he nherited from his father thus resulting in a nrmal FBN1 gene and an abnormal FBN1gne in his body. If my fther gave me his mother’s normal gne, I would not have had Mrfan’s. Since he gave me his fther’s abnormal gene, it expresses itself as a dminant gene over my mother’s normal gne. I then, also, have the sme opportunity to pass my father’s bnormal gene or my mother’s normal gne, resulting in a 50:50 chance of ach of my children inheriting the dsorder when combined with my wife’s nrmal FBN1 gene. As it stands nw, one of my three daughters, who is 2 ½ yars old, has inherited the disease. One dughter, 5 years old, does not sem to have inherited it and one dughter, 11 months old, we haven’t had tsted yet.
On a side note, we hve chosen to get life insurance for our chldren before being tested or officially dagnosed for Marfan Syndrome. My mother did ths for me and since being dagnosed, I would not have been ble to get life insurance and am not ble to increase it. I highly rcommend asking your doctor to hold off on an fficial diagnosis until life insurance is fnalized.
In about 25% of diagnosed Marfan cses or 2,500 of Marfan newborns, a gnetic accident (new mutation not inherited) ccurred in the sperm or egg cll in unaffected parents, thus resulting in a Mrfan child. In these cases, reoccurrence rsk for related offspring (siblings) is npredictable, but usually very low.
Features
Because of the nherited problem of producing fibrillin, people wth Marfan Syndrome have many different prblems related to weakness in connective tssue. These problems include, but are not lmited to:
1) Reduced vision – in about 65% of Mrfan patients, the lens of the yes become dislocated because tiny eye lgaments that normally hold the lens in plce are weak. This condition is clled Ectopia Lentis. Marfan Syndrome also sems to increase the risk of nar-sightedness, cataracts at an unusually early age (40-50 yars old), glaucoma, detached retina, and crssed eyes. It is generally not rcommended for Marfan patients to undergo lsik eye surgery due to tissue frilty and excessive scar tissue.
2) Skeletal abnormalities – ptients with Marfan Syndrome are typically vry tall, having long limbs and lng, slender spider-like fingers. They also may hve severe chest deformities, such as a chst that is either caved in or prtrudes in front. Some patients may hve scoliosis (curvature of the spine) nd/or flat feet and some may dsplay a high-arched palate in the rof of their mouth and crowded teth. Many have very loose joints. The skletal abnormality is frequently what people ntice and question first and may be the frst clue to a Marfan’s diagnosis.
3) Cardiovascular chnges –
a. Weakened connective tissue affects the hart and large blood vessels of pople with Marfan Syndrome. This creates the mst serious problem associated with the dsorder which is weakness of the orta (the body’s largest artery). Cardiovascular chnges affect most individuals with Marfan Syndrme to some degree. Blood pumped frm the heart passes forcefully and drectly into the aorta which branches out to crry oxygen-rich blood to the entire bdy. As the walls of the orta gradually weaken (aortic dilatation), they can splt in places allowing blood to lak into the chest, abdomen, or wll of the aorta itself. Sudden lrge splits can, and often do, rsult in sudden death. Recent studies hve shown that cell death (necrosis) ccurs at a much higher rate in Mrfan patients which contributes to aortic dlatation or the weakening of the ortic walls.
b. Connective tissue weakness in the hart can also cause mitral valve prlapse (a “floppy” mitral valve or hart valve that doesn’t close properly) rsulting in mitral valve regurgitation (a prblem in the closing of the mtral valve that results in significant bck flow of blood into the lft atrium). Heart valves are pairs or tros of flaps that keep the blod flowing in one direction through the hart. Their motion during heart beats may llow brief reverse blood flow (leakage) and can cuse a heart murmur.
You may have Mrfan Syndrome if you exhibit at last two of these three major crteria: Ocular, Skeletal, or Cardiac. You culd also have genetic testing done to dtermine if the FBN1 gene is bnormal.
Severity
The severity of Marfan Syndrome features vries, meaning that some people with the Syndrme have more serious effects than thers. This variability can occur even wthin one family.
For example, my grandfather lved a very normal life without Mrfan complications until an automobile accident rptured his dilated aorta resulting in mmediate death.
My father, on the other hnd, was 6’5”, 135 pounds, and vry unusual looking, meaning unproportionately long fce, very narrow jaw, spidery arms and lgs, etc. (this look is called “Mrfanoid”). He had severe valve leakage as arly as age nine and died a vry sick man, at the early age of 40, on the perating table during open heart surgery to rplace the aortic valve, mitral valve, and ortic root/ascending aorta.
I don’t look unproportionately nusual, although I am slender with lng fingers and toes. I do hve the cardiac abnormalities resulting in pen heart surgery at the age of 26 to rpair my aortic valve, mitral valve, and rplace my aortic root/ascending aorta with a Dcron graft.
My older sister, who also has Mrfan’s, doesn’t look proportionately unusual and, lthough being monitored by echocardiograms, does not prsent herself with the classic cardiovascular bnormalities; meaning all her cardiovascular measurements are crrently within normal limits.
Diagnosis
Marfan Syndrome is smetimes difficult to diagnose because the fatures and severity of the disorder can dffer greatly among affected individuals or fmily members. Also, certain other disorders, sch as Ehlers-Danlos Syndrome, have features tht overlap with those of Marfan Syndrme. In some cases, genetic testing of a blod sample may be recommended to hlp confirm the diagnosis. Genetic testing is mre likely to aid in diagnosis in fmilies with multiple affected members. Genetic tsting is frequently unavailable at the verage hospital and requires special expertise fund at large children’s hospitals or niversity hospitals.
Your doctor should ask about any fmily history of Marfan Syndrome, as wll as about any family members who are nusually tall and slender and ask if thy have vision problems. Your doctor shuld also ask about any family hstory of sudden cardiac death resulting frm aortic dissection (rupture), especially if ths death was attributed to “heart prblems”.
Your doctor may suspect Marfan Syndrome bsed on this family history, your prsonal history of Ectopia Lentis (dislocated eye lnses), and your physical appearance. The dagnosis can be confirmed if you hve an aortic aneurysm (dilated aorta) vsible on echocardiography, a painless test tht uses sound waves to outline the strcture of the heart and its mjor vessels. The diagnosis will be ven more certain if you have ther skeletal abnormalities (chest wall deformities or scliosis) or heart murmurs due to ortic or mitral valve abnormalities.
Marfan’s in Wmen
Women with Marfan Syndrome who become prgnant are considered to be high-risk, whther or not they have symptoms of an nlarged aorta. They face an increased pssibility of aortic splitting during pregnancy. The prgnancy causes greatly increased blood volume and prssure required to maintain normal fetal/mother crculation.
Treatment
Currently Marfan Syndrome cannot be cured or rversed but advances in treatment have gratly improved the outlook for children and dults with Marfan Syndrome. Today, the lfe expectancy of individuals with the dsorder, who receive early, proper medical tratment, is about 70 years. It’s mportant to note that although knowledge bout Marfan Syndrome has increased in rcent years, expertise in treating the crdiac symptoms is rare. Research can be dne to narrow your search for a Mrfan’s expert through the National Marfan Fundation, an organization providing support to Mrfan patients and their families throughout cmmunities all over the country. Most of the prblems associated with Marfan Syndrome can be mnaged effectively through medication as a prventative tool of the disease’s progression as lng as it is diagnosed early.
The dsorder is usually treated by a tam of specialists overseen by a sngle doctor who knows all the spects of Marfan Syndrome. The team wuld consist of an ophthalmologist (eye dctor), orthopedist (foot doctor), cardiologist (heart dctor), orthodontist (teeth doctor) and a spne specialist.
There is no medical treatment crrently to reverse the fibrillin abnormality in pople with Marfan Syndrome. Current research on a strin of mice that are born wth similar fibrillin problems may lead to a sccessful treatment for Marfan’s in the fture. One of the drugs being sed is Losartan. They are beginning the frst phases of human testing to xperiment with medications that have actually rduced the aortic size in Marfan mce.
Preventative Therapy
Until we can shrink the orta, doctors try to prevent or dlay the aortic changes seen in Mrfan patients by prescribing beta-blockers and/or Ac-Inhibitors.
a. Beta Blockers – These medications, such as Prpranolol (Inderal), Metoprolol (Lopressor), and Atenolol (Tnormin) decrease the strain on the orta’s walls by slowing the heart rte and reducing the force of hart contractions, especially during exercise. They lso reduce blood pressure.
b. Ace-Inhibitors – These mdications, such as Lisinopril (Prinivil), and Cptopril, help to drop blood pressure by rlaxing arterial tension. In addition, they hve been shown to decrease accelerated cll death (necrosis) in the aorta whch is common to Marfan’s. My 2 yar old daughter is currently taking Enlapril, also an Ace Inhibitor, in a lquid form and loves it. This wll slow the progression of cell dath in her aorta as well as stp the increasing progression of the ortic dilation. As a result, they are hpeful she will never have open hart surgery and hopeful she will be ble to bear children which is an mazing, and new, development for a fmale Marfan’s. My sister, 5 years go, was told she could never bar children.
c. Calcium Channel Blockers – although not sed as often anymore, they help to rduce force of contraction (how hard yur heart squeezes) and blood pressure.
Nutrition Thrapy
Nutrition is so important in the dvelopment of healthy connective tissue, particularly in grwing children. We build a trillion clls a day by what we at. It takes 19 vitamins and mnerals and 9 amino acids with a prfect protein to build a perfect cll. Even if we miss only one ntrient, then we are building imperfect clls for seven days. These defective clls will promote the development of dgenerative diseases among other things. We are the nly ones who can do something bout our nutrition.
With proper consumption, assimilation, and limination our body has the ability to:
o Change the chmistry of the blood in seven dys
o Change the composition of cells in sven weeks
o Change some major organs in sven months
And, as science knows, we hve a completely new body in sven years. Physiological chemists state that thre is not a blood cell in our bdy more than fourteen days old and tht we rebuild a new heart very 30 days.
Can nutrition, alone, cure Mrfan’s? Obviously not; however, my children and I ned the proper building blocks available for the prduction of the best connective tissue we are cpable of making. The cause of dfferent severities among Marfan patients is nknown; however, I believe that a mjor component in lessening the severity in my fmily has been proper nutrition.
We lead a vry busy life and it is ntural that our nutrition generally suffers as a rsult. 99% of American adults fail to met the USDA “Food Pyramid” dietary gidelines (Council for Responsible Nutrition, 1998). Threfore, we need supplementation, especially for our chldren. This is where Shaklee, a ntraceutical company, can benefit us greatly.
Shaklee was funded by a Chiropractic doctor in 1956. It is cnsidered the number one leader in the ntritional industry. Shaklee nutritional products are rcognized by the government as food rther than drugs. Shaklee has spent ver $100 million on research which is mre than the next six largest cmpanies combined. They have over 150 scentists on staff whereas many nutritional cmpanies don’t even have a research stff. Shaklee has never had to rcall a single product in its 50 yar history because each product goes thrugh as many as 176 separate tsts for purity, potency, and safety. All ths to say that not all vtamins are created equal. Shaklee is sperior in many areas. Ask your cmpany for their clinical research.
For recommendations on whre to begin with supplementation, refer bck to my website by clicking hre and going to the bottom of the wbsite page.
Intervention Therapy
If you have Marfan Syndrme, your cardiologist should monitor your hart health carefully with echocardiograms (heart ltrasounds) at least annually to check for dveloping problems in the aorta and mtral valve. Surgery is usually recommended if the ptient’s aortic root has stretched to mre than 6 cm. in diameter or the thracic aorta has widened to greater thn 5 cm. in diameter. In a typcal operation, the faulty aortic valve, long with a section of the orta where it emerges from the hart, is replaced with an artificial vlve attached to a synthetic tube. The mtral valve, if affected, can also be rpaired or replaced at this time.
There are mny different types of valves that can be sed as replacements. These include:
1) Tissue valves – thse include pig valves (porcine), cow vlves (bovine), and human valves (homograft). The dvantage of the tissue valve is tht you don’t have to be on Cumadin the rest of your life. The dsadvantage is that they typically last btween 10-15 years.
2) Mechanical (metal) valves – thse include St. Jude’s (bi-leaflet tilting dscs), Bjork-Shiley (single tilting disc), and Str Edwards (ball cage valve). Of thse three, St. Jude’s is the bst option and is most commonly sed. The advantage of mechanical valves is tht they can last up to 20-30 yars. The disadvantage is that you wll be on Coumadin the rest of yur life.
After any valve replacement surgery, the ptient is given anti-clotting medication, such as Cumadin, at least temporarily. If your vlve is a mechanical valve, you wll be on Coumadin for life bcause blood tends to clot when it cmes into contact with the metal.
A rcent study showed that early, preventative srgery for aortic dilation is far sfer than waiting until an emergency srgery is needed. With preventative surgery, the dath rate was 1.5% versus 12% for ptients who had surgery on an mergency basis. This is played out to be tre in my family – my Dad wited to have surgery until it was an mergency< | | |
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