Marfan syndrome is a recent problem that most individuals are facing due to the ignorance of regular checkups with their concerned doctors. Few of them try to maintain their health despite their busy schedule.
Major concerns stated by some medical associations are ignorance of noticing certain symptoms causes the delay in treatment.
Pain Tracker helps patients in need to track the pain caused and symptoms in the form of a report to their concerned doctor. It helps to manage the pain whenever caused. With the help of the mobile app for Android as well as the website, one can use it to keep daily track of records regarding their health.
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What is Marfan syndrome?
Marfan syndrome was named after a French pediatrician Antoine Marfan, the first to describe this condition. Marfan syndrome, in abbreviated form, is termed as MFS. It is a genetically inherited disorder that affects all tissues in the body. The connective tissue that helps to support the structure of the body is the most affected.
Other parts of the body that are commonly affected are our eyes, blood vessels, lungs, heart as well as bones. People suffering from this syndrome are tall as well as thin having disproportionate arms, legs, fingers, etc. This disease can become life-threatening if left untreated. This affects both men and women equally.
The life expectancy of a person with Marfan syndrome
Most researchers believe that people with Marfan syndrome have normal life expectancy if treated properly. This syndrome affects those who have inherited it genetically from their concerned family members. The life expectancy of a person has increased in a way over the last few decades compared to an average person.
Causes
The major cause of this syndrome is due to mutations in fibrillin-1, an important protein part of the connective tissue. This causes a disorder characterized by aortic aneurysms and dissections. For instance, most people having this syndrome inherit the abnormal gene from their parents. Each child of these affected parents has a chance of inheriting this syndrome.
Symptoms
It affects different people in a variety of ways. Some of them are not severely affected; however, in a few scenarios, the disease gets worse due to an increase in age.
1. Causing heart murmurs
Problems associated with the cardiovascular system (heart and the blood vessels) due to defects in the connective tissue. In some cases, leakage of certain valves causes heart murmurs. Minor leaks may result in causing a shortage of breath, fatigue, etc.
2. Aorta dilatation
The weakening of the aorta (the artery that carries blood from the heart to other parts of the body) walls due to faulty connective tissue, leads to a process of aorta dilatation. It increases the risk of a rupture in the aorta and causes serious heart problems that lead to sudden death.
3. Dura ectasia
Dura is a fluid surrounding the brain as well as the spinal cord contained by a membrane, composed of connective tissue. Most of the patients with this syndrome grow older causing the dura to weaken as well as begin to weigh the vertebrae present in the spinal cord to wear down the bone surrounding it. This leads to dura ectasia. This may cause pain in the abdomen, weakness in the legs, etc.
4. Developing stretch marks on their skin
Most people with this syndrome may develop stretch marks on their skin with no weight change as such. It poses no threat to their health. There is a high risk of having an inguinal hernia, a bulge developed in one part of the intestine.
5. The risk of having a lung collapse
If the tiny air sacs present in the lungs become swollen, there is a risk of lung collapse.
6. Vision problem
People with this syndrome have an extreme near-sight problem in their eyes.
7. Scoliosis
An abnormal curve in the spine is termed scoliosis. People with Marfan syndrome have a high chance of this problem.
Most doctors have claimed that it also leads to various complications in pregnancy if the patient has this syndrome.
Risk factors
The major risk is that this syndrome affects equally men as well as women of all ethnic groups, and races. This genetic condition has a chance of having one of the parents with the disorder.
Diagnosis
It is a challenge for doctors to diagnose this syndrome as it has similar symptoms related to connective tissue disorders. The symptom of Marfan syndrome differs in their features as well as the severity among the family members. Doctors recommend conducting heart, eye as well as genetic tests to know the exact problem of this syndrome.
Treatment
In recent times, most of the researchers claimed that there is no cure for Marfan syndrome. It can still manage to cure the symptoms before this leads to major health complications.
1. Medicines
Doctors prefer giving certain medications for preventing aorta enlarging causing any rupture.
2. Correcting eye problem
Wearing glasses or contact lenses minimize the problem in the eyes.
3. Surgeries
Doctors suggest surgeries as an open option to repair some body parts affected by this syndrome including the aorta, breastbone corrections, and eye surgeries if one of them has a cataract or other retina problem, etc. For the treatment of scoliosis, most patients prefer to consult doctors specialized in the spine.
What happens if you have Marfan syndrome?
If you have some kind of physical pain while doing regular chores, the best solution is to consult the concerned doctor. The concerned doctor might work to minimize the symptoms without leading to further complications through proper treatment.
It requires ignoring participating in active sports as well as heavy weight lifting. It is safe to do less complex activities such as walking, playing golf, etc. Emotional support from your friends, family, and work colleagues will provide you with some strength to tackle this disease.
Using the Pain Tracker application helps to know the severity of physical pain symptoms in this syndrome. The doctors find it more useful to know the concerned patients’ condition with further track reports updating the patient’s day-to-day logs of daily health chart. Visiting the doctor more frequently if there is a health scare, and a timely cycle of treatment might reduce drastic problems from going out of hand.
