The genetic condition which affects connective tissues and other organs of the body, as diagnosed by Internal Medicine specialist in Lahore, is called Marfan syndrome. The effect of Marfan syndrome is seen on multiple organs and can even be life-threatening. Read on to know more about Marfan syndrome, its symptoms, diagnosis and treatment:
What is Marfan syndrome?
Marfan syndrome is a genetic condition that affects the connective tissues in the body. The connective tissue is the support tissue that anchors the organs and other structures in the body. If the connective tissue is weak, it affects the skin, lungs, nervous system, bones, eyes, heart valves, blood vessels and other vital parts.
What are the symptoms of Marfan syndrome?
The symptoms of Marfan syndrome can range from mild to severe and even life-threatening. The genetic expression of Marfan syndrome is such that different people can have varying intensity and symptoms of disease, even if they are members of the same family. As one ages, however, the disease gets worse.
People with Marfan syndrome show the following features:
- They are tall and have slender build
- Such patients often present with cardiovascular diseases, including heart murmurs
- Patients with Marfan syndrome are extremely near-sighted
- The patients have flat feet
- There is disproportionately long arms, fingers and legs in such patients
- The hard palate in their mouth is high and arched
- The patients of Marfan syndrome have crowded teeth
- The breastbone of these patients protrudes outwards, or sometimes it dips inwards
- Their spine may be curved more than normal
- The joints are easily dislocated in these patients
- Bone dislocations are common in these patients
- Blood vessels are enlarged and stretched much more than normal, causing weakening of aorta and increasing chances of aortic dissection and rupture
- Arrhythmias are common in people with Marfan syndrome
What are the causes of Marfan syndrome?
The cause of Marfan syndrome is genetic. It is passed through from the parents to the children due to a faulty gene. In people with this disease, there are 50 percent chances of passing it to their child. In certain cases, there is spontaneous mutation and no family history of disease.
The gene responsible for Marfan syndrome is called FBN1, which creates the protein fibrillin-1 to add elasticity to connective tissue. Without this elasticity, the connective tissue is unable to support the tissues and organs. Additionally, the defective gene creates proinflammatory state in the body, causing cytokine storm, subsequent inflammation and scarring.
How is Marfan syndrome diagnosed?
The diagnosis of Marfan syndrome is based on complete physical examination and investigations to rule out other diseases with overlapping symptoms. The confirmatory investigations include:
- Echocardiogram and electrocardiogram, especially in patients with cardiovascular manifestation, to check the state of the valves, aorta and the heart. In patients with arrythmias serial electrocardiograms are done for diagnosis.
- Slit lamp exam to check for retinopathies, and dislocated lenses
- Eye pressure test to check for glaucoma
- Genetic testing
- CT and MRI scans
What are the treatment options of Marfan syndrome?
There is no cure for Marfan syndrome, however, management options can focus on improving the quality of life and preventing complications. People with Marfan syndrome in the past often died young. However, with regular monitoring and treatment, people now have a longer life expectancy.
Patients with Marfan syndrome have individualized treatment plans. The approach is dependent on the severity of the condition and starts with lifestyle modification, followed by medication and surgery.
Lifestyle modification includes following activity guidelines, as recommended by the healthcare provider. People with Marfan syndrome can participate in recreational activities with moderate activities but not high intensity activities.
Medication are used for controlling the symptoms and not treatment of the disease. Beta blockers and angiotensin receptor blockers (ARBs) are often used for this purpose. Along with the medication, surgical procedures like valve repair may be performed as recommended by Internal Medicine Specialist in Karachi.