What is Marfan Syndrome? Cause, Effect, Diagnosis and Treatment
What is Marfan Syndrome?
A syndrome is a collective set of signs and symptoms which tends to manifest altogether, and therefore representing a particular kind of disease. In this regard, there is one kind of syndrome that specifically hampers the general or total well-being of a person. This is called the Marfan Syndrome. This article will try to discover what it is, and how to prevent this deadly disease, before it gets worst. The Marfan syndrome is simply a genetically-related disease of the connective tissue. Usually the most dominant characteristic of people who has this kind of disorder is usually characterized by long limbs, extraordinary tallness and thin fingers.
Marfan Syndrome: An Inherited Genetic Abnormality
According to medical experts, Marfan Syndrome is inherited through the process of a dominant trait which is best described as the relationship between alleles of a gene. An allele is one of two or more alternative forms of a gene that arise by mutation and are found at the same place on a chromosome. This genetic dominance happens when one allele has masked the phenotype or expression of another allele. Going back, the Marfan Syndrome is being carried by a gene known as FBN1. This gene is the one responsible for encoding the connective protein called Fibrillin-1, a glycoprotein which is necessary in the formation of human elastic fibers that is stored in connective tissues. Thus, it is secreted into the the extracellular matrix by fibroblasts, and in the long run mixes with the insoluble fibrils which appear to be like scaffolds for the release of elastin.
Who Discovered Marfan Syndrome?
The disease of the connected tissue was discovered and named after Antoine Marfan, a notable French pediatrician who was born on June 23, 1858, in Castelnaudary (département Aude, Languedoc-Roussillon). Basically, he had extensively described the said ailment in the year 1896, when the legendary apostle of Hippocrates noticed the very rare and striking features of a 5-year old girl, who had allegedly had the still undiscovered genetic malady.
The Marfan Syndrome Epidimiology
For those of you who have not yet been familiar with this kind of connective tissue disorder, according to medical statistics, anyone can be affected by Marfan Syndrome. In other words, this particular dreaded malady has no geographical bias. To date, the approximate ratio of people who are suffering from Marfan Syndrome is 1:3000 or 1:5000.
In the succeeding sections, you will be well- informed about the causes, its different types, signs and symptoms, diagnosis and several treatment modalities for Mafran Syndrome. This will enable you to make the necessary preventive measures, so that your healthy and active lifestyle will be at hand in the next generations to come.
What are the Different Causes of Marfan Syndrome?
Initially, the primal cause of Marfan Syndrome is due to a genetic mutation or defect. In addition, the said faulty gene which had been mentioned and described earlier; is unfortunately inherited. As a result, the child’s chances of inheriting the disease is most likely probable with an approximate of a 50% probability. In some rare cases, a new gene defect could possibly happen during the genesis of egg and sperm cells. Therefore, both parents who do not have the Marfan Syndrome could have greater possibilities that their offspring, will have the malady. This is medically referred to as an “autosomal genetic condition”.
On the other hand, medical researches have said that the two unaffected parents could at least have 1:1000 chances of having a baby with this debilitating syndrome. Conversely those remaining 25% of the cases which have this type of genetic defect can be caused by spontaneous mutation.
It is essential to note that a Marfan Syndrome patient can have a defect in the same gene, different forms of genetic mutation can possibly happen in different families. Furthermore, the imminent characteristics of this dreaded affliction are not one and the same, as far as the signs and symptoms manifestations are concerned. To simplify, each damaged gene freely expresses itself, in varying people and ways respectively. Consequently, the latter medical conclusion is being termed as “variable expression”.
Signs and Symptoms of Marfan Syndrome
Commonly, the signs and symptoms of Marfan Syndrome can range fro mild to severe characteristics in different people. To make it simpler to understand, medical practitioners have clearly divided the possible signs and symptoms, based on the basic physiological systems of the human anatomy. In a rundown these are as follows:
- Skeletal – People with this kind of affliction are typically tall, slender and with loose joints. Likewise, there is also an appearance of some body parts which are actually not in proportion to the rest of the body. Meanwhile, the victims of this syndrome tend to have long and narrow facial features, the root of their mouths are slightly arched, their breastbones are protruding or indented. Lastly, those patients with the signs and symptoms of Marfan Syndrome, have curved spines or otherwise known as “scoliosis”
- Eyes or visual physiology – Oftentimes, people with this genetic problem have dislocated eye lenses, they might be both or only one. In addition, the eye lens dislocation may be higher or lower than the normal. In worst cases, the patients’ eyes might be shifted to one side. Also, those patients with this kind of genetic sickness are commonly nearsighted. If these symptoms are not addressed immediately, those patients may suffer from glaucoma or cataracts.
- Cardiovascular System – Due to a defective connective tissue, the aortic wall, might become weak and stretched. This medical condition is called aortic dilation. If this unfortunately happens in the long run, the risk factor of making the aortic wall to be torn down becomes an inevitable circumstance. In effect, it can bring about serious cardiovascular defects which will eventually lead to death, if not treated immediately. The other cardiovascular effects of Marfan Syndrome is a leaking of the heart valves, which cause heart murmur. On the other issues of cardiovascular defects, a Marfan Syndrome can lead to shortness of breath, fatigue and palpitations
- Central Nervous System - The Dura or the liquid matter of the brain and the spine which has a very delicate connective tissue, might stretch and weaken as the patient with a Marfan Syndrome ages. Consequently, a certain weight goes right down to the vertebrae, which is located at the lower spine. Therefore, the bone that surrounds the spinal cord wears out. In the long run, it will cause the patient another medical problem called as dural ecstasia
- Skin – If you are afflicted with Marfan Syndrome, there are clear manifestations of stretch marks on your skin. Similarly, the physical characteristics may appear at any age. But, there is a potential health risk in this part of your body. If not treated well, the patient might develop an intestinal complication or ailment, medically alluded to as inguinal hernia. This particular complication is characterized by intestinal bulging
- Respiratory System – A patient with Marfan Syndrome experiences sleep-related disorders like sleep apnea and snoring due to the swelling of tiny air sacs
- Emotional / Psychological - After being diagnosed by a doctor and a patient have found out that he or she has a genetic ailment like Marfan Syndrome, it can cause lots of stress and psychological dilemma. To resolve this very unfavorable situation, it is essential to know, that the patient’s condition must be explained to him or her slowly and gradually. Of course, it is the right of every person to be well-informed about his or her health condition but, if the patient has a weak emotional threshold, you better not divulge the real score yet, as it might aggravate his or her medical condition.
Diagnosis Procedures for Marfan Syndrome
The diagnosis of Marfan Syndrome does not in any way require laboratory tests. However, a professional and duly recognized geneticist solely depends on basic factors namely:
- Medical history of the patient – This method of knowing the early onset of a Marfan Syndrome includes the following essential requisites: Family information which will comprehensively detail the history of the disease within the family.
- Rigid and complete physical examination – which first and foremost centers on the examination of the skeletal frame and the ratio of the arms and the legs of the patient in correlation with the trunk size of the patient
- A careful examination of the visual senses that also includes a slit lamp test
- Cardiovascular test using an echo cardiogram apparatus
How Should a Doctor Diagnose a Patient with No Genetic or Medical History of a Marfan Syndrome?
Speaking of patients with no medical history, there are three parts of the body systems which are already affected prior to the diagnosis of the sickness. To make it more comprehensive and more accurate the medical assessment of a Marfan Syndrome can be done through a more modernized genetic analysis procedures. However, some people presumes that this medical process is only a waste of time, and will be useless in the latter course of time.
Treatment of Marfan Syndrome
It is unfortunate to know and realize that there is no specific cure for this genetic defect. However, if a scientist wants to help those unfortunate patients, he or she has to identify and modify the primary gene which causes the lethal Marfan Syndrome. On the contrary, there are management modalities to be undertaken in order to minimize the negative effects of Marfan Syndrome. Below, are some of them.
- Regular check up to your friendly cardiologist – The goal of the said management treatment is to closely monitor the aortic valve of the heart to decrease the dilation of the aorta
- Use of beta blockers – Beta blockers are being employed by doctors to decrease the incidence of arrythmias and slowdown the heart rate of a person with Marfan Syndrome
- ACE inhibitors – These medications are used to minimize blood pressure, without slowing down the patient’s heart rate
- Medical Surgery – This medical procedure is not highly recommended for those patients who have acute aortic dissection or rupture, because the procedure will bring about other complications as a result of the Marfan Syndrome
- New valve-sparing surgical techniques – are becoming more common to properly manage the Marfan Syndrome in older patients
A genetic defect like the Marfan Syndrome remains to be a mysterious type of illness. Therefore, further research and development methodologies must be a part of the numerous solutions that would finally put an end to Marfan Syndrome in the years ahead.