Marfan syndrome is a spectrum of disorders affecting the connective tissue. This group of tissue maintains the structure and integrity of the body, the internal organs, and practically holds everything in place. When these integral tissues are defective, it is only natural that distortion in function and deformities ensues and due to these reasons, a person with Marfan syndrome may have the characteristic tall build, with a slim frame, abnormally long and slender limbs and fingers, heart defects and eye problems. They vary broadly in severity from one person to another.
With the discovery of antibiotics, physiology-modifying drugs, advanced medical equipment, it boggles us to this day as to why there is no cure for Marfan syndrome. To answer this question, we have to understand the nature of the disease and later on, we will explore what we can do to improve the livelihood of the patients and some aspects of Marfan syndrome prevention.
Firstly, Marfan syndrome is a hereditary disease, which means that the defective genes of a parent that caused him to have Marfan syndrome in the first place, is passed on to his offspring, making the child to also have Marfan syndrome. Next, the inheritance pattern is autosomal dominant, meaning that a child can inherit the syndrome even if only one parent has it. This is in contrast with other diseases such as thalassaemia that require both parents to have the disease in order for the children to get significantly affected.
The gene defect will lead to abnormal production of fibrillin, which is a type of protein. The resulting effect will make parts of the body with huge amounts of fibrillin, to be abnormally stretchable even under normal pressure. This is why their arms and legs are longer compared to normal individuals. As you can see, the defective gene pervades throughout the whole body and can be found in virtually every cell, and all of this are acquired from conception,therefore, to date, there are no treatment modalities available that can target all these defective genes, repair them, and reverse the effects they had left on the limbs and other organs.
Prevention of Marfan syndrome begins at preconception. Parents who have Marfan syndrome can discuss the matter with their doctor and discuss the likelihood of passing on the disease and the severity of the disease to their future children. The next aspect of prevention, is to prevent the development of its dreaded complications. In the past, people with Marfan syndrome typically died young due to limited technology in detecting and managing its complications. Listed below are some pf its complications:
Heart and blood vessel (Cardiovascular system)
- Dilation and thinning of aorta which is the main blood vessel that transports blood out of the heart to the rest of the body
- Layers of the aorta may get separated and get torn.
- Floppy and inefficient heart valve
Eyes (ocular system)
- Extreme near-sightedness
- Dislocation of the lens
- Detachment of the retina, which is the layer inside the eye that receives light signal
- Glaucoma
- Premature cataracts
Lungs
- Sudden lung collapse
- Emphysema
- Asthma
- Sleep apnea
Some of these conditions if goes undetected and resumed its course may prove to be fatal. Hence, patients with Marfan syndrome will have to undergo several tests and follow-ups frequently with the doctor depending on the severity so as to keep the development of these complications in check. And if it is necessary, surgery will be done to correct it.
If you suspect that you or your family members may be having Marfan syndrome, it is best for you to consult your doctor and seek an expert opinion and early intervention can be incorporated.
