A patient was recently seen in the office complaining of back pain that was worse with activity. A review of their medical history revealed that they had been diagnosed with Marfan Syndrome some years earlier.

A review of similar cases over the years naturally led to the question: is Marfan Syndrome a cause of back pain?

What Is Marfan Syndrome?

Marfan syndrome, also called Marfan’s syndrome is a genetic condition that an individual inherits from a parent who also has the condition, or a parent with a faulty gene in their sperm or egg. The fault is carried by a gene called FBN1, which encodes a connective protein called fibrillin-1. The syndrome affects connective tissues – the fibers that help to provide support and structure to other tissue and organs.

Marfan syndrome can affect different parts of the human body, including the heart, blood vessels, bones, joints, and eyes. Sometimes, the lungs and skin are also affected..

Marfan syndrome has no impact on intelligence – it does not affect the patient’s cognitive abilities.

The disease is named after Antoine Marfan (1858-1942), a French pediatrician. Marfan first described the syndrome in 1896 after observing distinctive features in a 5-year-old girl. Francesco Ramirez, Mount Sinai Medical Center, New York City, first identified the gene linked to the syndrome in 1991.

Marfan syndrome’s effects on a human being can range from mild, moderate, severe to life-threatening. The most serious complications include damage to the heart valves and/or the aorta.

According to the National Health Service (NHS), UK, about 1 in every 5,000 British people has Marfan syndrome. It affects males and females equally.

Although it is mainly an inherited condition, in about 25% of cases no close relative with the same condition is identified. A person with Marfan syndrome has a 50% risk of passing it on to each offspring.

Although Marfan syndrome is incurable, there are therapies that can improve the patient’s quality of life.

Individuals with Marfan syndrome tend to have long arms, legs and fingers. Often their arm-span is longer than their height.

According to Medilexicon’s medical dictionary:
“Marfan syndrome is a connective tissue multisystemic disorder characterized by skeletal changes (arachnodactyly, long limbs, joint laxity, pectus), cardiovascular defects (aortic aneurysm which may dissect, mitral valve prolapse), and ectopia lentis; autosomal dominant inheritance, caused by mutation in the fibrillin-1 gene (FBN1) on chromosome 15q.”

Some individuals who are born with Marfan syndrome may be completely unaware until later on in life.

What are the signs and symptoms of Marfan syndrome?

A symptom is something the patient feels and reports, while a sign is something other people, such as the doctor detect. For example, pain may be a symptom while a rash may be a sign.

As Marfan syndrome can affect varying parts of the body, it has no unique signs and symptoms; however, the following constellation of symptoms are usually sufficient to make a diagnosis:

  • Very long limbs
  • Long fingers/toes
  • Dislocated lenses
  • Aortic root dilation

Experts say there are several possible signs and symptoms that involve the skeleton, eyes and cardiovascular system. Signs and symptoms vary between individuals, from mild and limited to certain body parts, to severe and affecting several body parts. According to the National Health Service (NHS), UK, about 10% of cases have severe symptoms; which tend to worsen with age.

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