Skip to main content

Marfan Syndrome

Marfan syndrome is a heritable genetic disorder that affects the body’s connective tissue. A mutation in the gene responsible for the production of fibrillin-1 occurs, resulting in problems in connective tissues throughout the body. 



About 1 in 5000 people have Marfan syndrome. These people are usually tall and thin, and display hyper-extensibility of joints. Marfan syndrome can also lead to eye complications such as lens dislocation, retinal problems and early-onset glaucoma as well as skeletal issues such as scoliosis.

 



However, the most dangerous complications of Marfan syndrome are the cardiovascular complications. Patients diagnosed with Marfan syndrome are at higher risks of aortic aneurysms and aortic dissection, both of which can be fatal. 


Due to problems with the body’s connective tissue, pressure of the blood leaving the heart can cause the wall of the aorta to bulge out, resulting in an aneurysm. For most people with Marfan syndrome, this occurs at the root of the aorta. A ruptured aneurysm can lead to fatal consequences. 


Furthermore, aortic dissection can also occur when a small tear in the innermost layer of the aorta’s wall allows blood to squeeze in between the inner layer (tunica intima) and the outer layer (tunica adventitia). This causes pain in the chest and the back. An aortic dissection also weakens the structure of the aorta and can result in a rupture, which may be fatal.


Famous people that suffer from Marfan syndrome include Abraham Lincoln, Julius Caesar and Michael Phelps.


For patients with Marfan syndrome, early diagnosis is critical. Medication can be given to lower their heart rate and blood pressure, which can lower the risks of cardiovascular complications. Being able to recognise the signs of Marfan syndrome can prove to be life-saving for some of these patients.



Sources: 

https://www.singhealth.com.sg/patient-care/conditions-treatments/marfan-syndrome/treatment

https://www.marfan.org/about/marfan

https://www.mayoclinic.org/diseases-conditions/marfan-syndrome/symptoms-causes/syc-20350782

Comments

Post a Comment

Popular posts from this blog

Parkinson's Disease

Parkinson’s disease is a progressive nervous system disorder that affects one’s movements. Parkinson’s disease signs and symptoms are different for every individual and may go unnoticed in the early stage. Symptoms typically start on one side of the body and remain worse on that side even after the symptoms begin appearing in both sides of the body.  Generally, the symptoms of Parkinson’s disease include tremors, slowed movement, rigid muscles, impaired posture and balance, loss of automatic movements such as blinking or swinging of arms when walking, and speech and writing changes.  Parkinson’s disease occurs when neurons in an area of the brain that controls movement becomes impaired or dies. These neurons normally produce dopamine. As more neurons become impaired or die, the amount of dopamine produced in the body is reduced significantly, causing the movement problems associated with Parkinson’s disease.  People with Parkinson’s also lose the nerve endings that produc...
Post a Comment
Read more

Osteoporosis

Osteoporosis is a bone disease that occurs when there is too little bone or when the body produces too little bone. The word is derived from the terms ‘osteo’ which means ‘bone’ and ‘porosis’ which means porous. Compared to normal bones, the spongy bone has more holes or pores, weakening the structural integrity of the skeleton. Bone cels called Osteoclasts, break down bone tissue and Osteoblasts build bone using minerals such as Calcium and Phosphate. Hormones such as oestrogen and testosterone help to keep the number and activity of Osteoblast high.  There are 2 types of osteoporosis. Primary Osteoporosis is due to old age when Osteoclasts remove more bone than Osteoblast make. This usually happens after the age of 30 when adults reach their ‘peak bone mass’. Secondary Osteoporosis affects both children and adults and mainly stem from cancer, hormonal imbalances or certain use of medications. In severe cases, bones may become too weak to support the rest of the human body and is ...
Post a Comment
Read more

Tinnitus

Tinnitus is a hearing condition often described as ringing in the ears. Tinnitus can also cause other types of noise in your ears such as: buzzing, roaring, clicking, hissing and humming.  The pitch heard from tinnitus can vary from a high squeal to a low roar, this can affect the patient’s ability to detect tinnitus from external sounds Tinnitus can develop gradually over time or occur suddenly. It is often associated with: age-related hearing loss, inner ear damage, earwax build-up and middle ear infection However, one in every three people with tinnitus doesn't have any obvious problem with their ears or hearing. Sources: https://www.mayoclinic.org/diseases-conditions/tinnitus/diagnosis-treatment/drc-20350162 http://www.webmd.com/a-to-z-guides/understanding-tinnitus-basics
Post a Comment
Read more