Marfan syndrome is a rare genetic disorder that primarily affects the connective tissues in the body. It is characterized by abnormally long limbs, such as in the arms, legs, fingers, toes, besides an extended upper body frame or torso.
This genomic ailment is named after the renowned French medical expert and paediatrician, Antoine Marfan, who first identified unusually stretched external features in a very young girl who was merely 5 years old, in the year 1896. Marfan syndrome affects both men and women.
The connective tissues are spread across numerous segments within the human system, usually comprised of a few specialized cells and thread-like matter. They are responsible for providing structural support to the skeleton, aside from retaining the other organs in their respective places and assisting in normal, healthy growth, development of cells. They are of different types and perform distinct functions of joining, separating, holding together numerous organs.
The key connective tissues in the body are bone, cartilage, blood, lymph, adipose, fibrous matter and elastic filaments. Also Read: Bone Cancer: Causes, Symptoms And Treatment
Apart from having rather lengthy forearms, calves with extremities of palms, feet being disproportionate to the rest of the body, people with Marfan syndrome also experience other consequences. These may be minor, like protruding chest bones, or quite grave, as in heart problems. In some instances, the aorta, the central artery which transports oxygen-rich blood to the brain, lungs and other parts of the body, begins to dysfunction, leading to life-threatening scenarios.
Hence, it is essential to seek professional medical care, once signs of Marfan syndrome are recognized in any person. In addition to routine treatment comprising prescription medications, the affected individual also needs to be monitored regularly, so as to assess all of their main body parameters for any damage.
Causes Of Marfan Syndrome
The chief components of all bodily connective tissues are proteins. Proteins are synthesized based on instructions from specific coding genes, which direct the body on how they must be formed, such that the final long-chain amino acid assembly can accomplish all of its functions.
Marfan syndrome is caused due to defects in the protein called fibrillin-1, due to irregular mutations in the FBN1 gene and other genetic elements, that generally form its accurate sequence. This, in turn, increases the amount of another protein, transforming growth factor-beta of TGF-B, which wreaks havoc on the normal connective tissue development processes, ultimately prompting Marfan syndrome.
Present research data shows that nearly 75 per cent of Marfan syndrome cases are owing to inheriting the faulty gene from one of the parents, while the remaining 25 per cent of incidents occur due to spontaneous mutations.
Symptoms
The distinguishing indications of Marfan syndrome may appear either right from birth – in infants children, or only later on in life, upon reaching adulthood. Furthermore, certain symptoms become worse as the affected person ages.
An individual suffering from Marfan syndrome typically displays the following features:
Very tall height, having a toned, slim build
Uncommonly long arms, legs
Flat feet that are huge in size
Lengthy, lean fingers
Odd curvature in the spine
Highly flexible limbs, muscles
Prominently bowed roof of mouth or palate
Improperly arranged teeth often wedged together
Chest bone that either bulges outward or compresses inward
Random pulse rate, heartbeat
Heightened nearsightedness or myopia Also Read: Myopia: Causes, Symptoms And TreatmentComplications
Marfan syndrome negatively influences the growth of connective tissues across all organs in the body. It, therefore, gives rise to countless complications such as:
Cardiac anomalies like valve malformations, blood vessel damage and aortic aneurysm
Severe visual flaws including dislocation of the eye lens, retinal detachment, early-onset glaucoma and cataract complaints
Spinal cord weaknesses as in haphazard bends in the spine, scoliosis, excessively flexible joints, constantly aching feet and low back pain
Diagnosis
The doctor initially reviews the entire family medical history of the patient, besides examining his or her external physical attributes.
Genetic testing is done, to detect if there is any mutation the fibrillin-1 protein, following which other organs, such as the heart, eyes, skeletal system are all analysed.
Echocardiogram utilizing ultrasound, to probe the aorta for any signs of widening, injuries and aneurysms
An electrocardiogram (ECG or EKG) scrutiny, to determine if there are is any erratic heart rate, murmurs in heartbeats or irregular rhythm
In-depth eye examinations, to verify all aspects of visual health and investigate for probable signals of glaucoma, cataracts
Representative scans of MRI (Magnetic Resonance Imaging), CT or CAT (Computerised Tomography), X-rays are carried out, to look for issues of low back swelling and discomfort.
Treatment
No cure exists currently for Marfan syndrome. Once the diagnostic assays confirm the genetic disease, treatment options aim to minimize the uneasiness triggered due to the innumerable symptoms.
The healthcare provider prescribes heart medications, to address the cardiac illnesses exhibited by the patient with Marfan syndrome. If acute challenges with heart functions arise, then reconstructive surgery will likely be performed.
Caring for the eyes is also necessary, with the doctor suggesting frequent visual checkups. This aids in identifying eye defects or trouble seeing properly, for which the medical professional advises contact lenses, eyeglasses or minor corrective operations.
To ease the pain in the spinal cord, limbs, neck and back, the physician recommends orthopaedic braces, to augment the body structure and foundation. Invasive surgical procedures are done if extensive limbs and curved backbones hinder normal activities of the afflicted person. This immensely helps restore routine functioning and daily productivity of the patient with Marfan syndrome.
