Question : what do Michael Phelps (pictured below), Abraham Lincoln and Osama Bin Laden have in common?
Answer : they were all diagnosed with Marfan Syndrome.
Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue helps to hold the body’s cells, organs, and tissues together and also helps to control how the body grows and develops.
There are also several disorders related to Marfan syndrome that cause people to struggle with the same or similar physical problems, and anyone affected by these disorders needs an early and accurate diagnosis.
Marfan syndrome is a serious condition, and some complications can be potentially life-threatening. Although there is no cure for Marfan syndrome, advances in medical care are helping people live a normal lifespan. That is why early and accurate diagnosis is so important, not only for people with Marfan syndrome, but also for those with related disorders.
It arises from an inheritable condition in which one of the key structural proteins, in the body, ‘fibrillin-1’, is faulty.
It can be transferred as an autosomal (meaning one of the chromosomes that is not a sex chromosome) dominant gene, meaning there is a 50:50 chance of it passing to offspring when one of the prospective parents has the defective gene.
If both parents have this abnormal gene, then all of their children would be affected. Families with a Marfan screened positive case can undergo genetic counselling to provide guidance on the condition and risks of complications. This can help reduce life threatening complications as well as improve the quality of life by reducing the harm from relatively minor (but still life affecting) disorders, e.g. visual disturbances.
In about a quarter of cases, the abnormal gene occurs spontaneously, i.e. the other close relatives are clear of this abnormal fibrillin-1 making gene. This protein is part of the ‘glue’ that holds tissues in the body together, so a deficit in its amount can affect different parts of the body, such as the eyes, joints, heart, major blood vessels and the skin. It is seen in about 1 in 5000 people, affecting males and females.
Some people are hardly affected by this condition, whilst others have the full range of its features.
The affected parts of the body are :
1. Skeleton - Height and disproportionately long limbs and dental problems
Adults and children tend to be long, ‘lanky’ and have long fingers, toes, arms and legs. They may have dental problems owing to a narrow mid-face meaning that the space inside the mouth is reduced so the teeth are ‘overcrowded’.
There can also be curvature of the spine and the breastbone can be abnormally shaped, either going inward or bulging outward.
2. The Skin
There is an increased tendency to have stretch marks and to sometimes take longer to heal, although this does vary.
3. Ophthalmic complications
The lens in the eye may not be in the correct position, giving rise to visual problems and even dislocation of the lens, or the lens can evolve into becoming a cataract and so also impeding vision. Another serious complication is retinal detachment.
4. Major arteries
The major blood vessel, the aorta, has to be able to accommodate the high pressures that come out of the pumping heart, from the left ventricle. The normal adult blood pressure is 120mmHg over 70mmHg, and the pressure is transmitted through to the vessel wall (the aorta). Owing to the decreased amount of fibrillin-1 protein, the wall of the aorta may become thin and a bubble like structure (an aneurysm) can form. This is at risk of rupturing and is a well-recognised cause of sudden death. This can be monitored by performing echocardiography (ultrasound of the heart) and, if required, referral to a cardiothoracic specialist can be made. Within the heart, the protein deficiency may lead to leaky valves, causing heart failure; patients can be screened and monitored for this too, which can be life-saving as well. It is very important that pregnant women with Marfan Syndrome are closely monitored during pregnancy as there are changes in blood pressure and the body’s physiology that can put extra stress on the heart and large blood vessels.
5. Lung Collapse
In some patients, there may be small ‘bubbles’ in the lung tissue which can burst and lead to lung collapse.
Early diagnosis improves the quality of life and may help to reduce life threatening events. Screening families of affected patients is therefore highly important.
The identified patients should undergo monitoring for the risk of these complications. The team that is usually involved is a paediatrician, geneticist, ophthalmologist, orthopaedic surgeon/physiotherapist, and cardiologist.
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