Oliver Bee RMTRegistered Massage Therapist

Massage therapy · Kitchener–WaterlooMarfan Syndrome

Foot

What It Is

Marfan syndrome is an inherited disorder affecting the connective tissues of the body. These are the tissues that maintain the structure of the body and support and anchor your organs and other structures (NHS, 2023a). The syndrome often affects the eyes, heart, blood vessels and skeleton (NHS, 2023b). People who have the syndrome are often tall and thin, with long arms, legs, fingers and toes (NHS, 2023a). The syndrome can be mild or severe. If your heart or main artery (the aorta) is affected, the condition can be life-threatening (NHS, 2023b).

There's no cure, so treatment focuses on managing the symptoms and reducing the risk of complications. You will usually be looked after by a team of different health professionals, and depending on how severe your symptoms are and which part of the body is affected, medicines or surgery might be needed (NHS, 2023c).

Marfan syndrome is caused by a change in a gene that leads to the body making less of a protein called fibrillin. Fibrillin gives connective tissue its strength and elasticity, so with less of it, parts of the body can stretch abnormally when under stress, and some bones grow longer than they should (NHS, 2023a; MedlinePlus Genetics, 2018). In about 3 in 4 cases, the syndrome is inherited from one parent who has the same disorder, and each child of a parent who is affected has a 1 in 2 (50 percent) chance of inheriting it. In the remaining 1 in 4 (roughly 25 percent) of cases, neither parent has the syndrome; the gene change happens for the first time (NHS, 2023a).

Many people with Marfan syndrome have loose and very flexible joints (hypermobility) (NHS, 2023b). However, loose joints are only one of several features. Some of the most important problems in Marfan syndrome affect the eyes, such as the lens of the eye moving out of place, and the heart and aorta (MedlinePlus Genetics, 2018; NHS, 2023b).

Marfan Syndrome Anatomy

The syndrome can affect multiple parts of the body. Some of the signs might be easy to see, while heart problems aren't visible. Your heart and aorta are checked with tests such as an echocardiogram, an ultrasound scan of the heart (NHS, 2023c).

The symptoms tend to get more severe as a person gets older (NHS, 2023b). Because the symptoms do not always develop during childhood, children might not be diagnosed until they are teenagers (NHS, 2023a). The first thing you will probably notice is how tall and thin the child is. A very long arm span, longer than the person's height, is common (MedlinePlus Genetics, 2018).

Not a diagnosis — for more information, contact me or another trusted healthcare provider.

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