Dr Child's Casebook: Appearances Can Be Deceptive – A Relative Anomaly. PART II

As discussed last week, some medical conditions can hide in plain sight, while others are writ large. Making itself known in the skeletal system, Marfan syndrome is usually visible for all to see in its height supremacy. Famous Marfan folk such as actor Peter Mayhew (Chewbacca) cement this towering cliché. But what of those who are not tall compared to the general population. They may well be tall compared to their parents as everything is relative, right? One Marfan patient contacted Dr Child, describing her wish to educate medics about the shorter end of the Marfan height spectrum. An atypical Marfan in her lack of (relative) height, she proved typical in her fragile heart which was intercepted just in time after a decade of misdiagnoses …

Q: I am writing to you as a concerned member of the public about the education of medics on the connective tissue disorder Marfan Syndrome. This includes NHS publications and texts. 20 years ago, I was misdiagnosed as having post viral fatigue syndrome and hypochondriasis because I kept raising my belief that I had Marfan syndrome. The reason I was dismissed as a person with medically unexplained symptoms was because I’m not tall. Dr Child at the Marfan Trust has publicised that many patients are not tall but the message is not getting through to medics in rheumatology, neurology and cardiology. It took 10 years to get this bias overturned, by which time I was in moderate to severe heart failure and needed aortic root replacement.

A: People with Marfan syndrome (MFS) are often possessed of a marfanoid habitus and this term refers to tall stature, long limbs (arm span is usually greater than height), long fingers, crowded teeth, a high-arched palate, and loose joints. And yet, as you say, height is relative. Above-average height is not essential for a diagnosis of MFS. It is important to look at the patient in the context of their familial height. This gives a truer picture.

When a patient, whether child or adult, is referred with the possibility of a diagnosis of MFS, they are assessed after careful physical examination and echocardiography (a test that uses sound waves to produce live images of your heart), and diagnosed if demonstrating classical features in two out of three major systems (eyes, heart, skeleton), supported by a family history in 75 % of cases.

A family history is obtained wherever possible, remembering that 25 % of patients are the result of a new mutation, while 75% have inherited the condition from one parent or the other. Each patient is asked to bring already existing snapshots of siblings, parents and offspring so that if dominant inheritance is present, it can be tracked through photographs. Operative reports may have to be obtained. Manifestations of early onset eye, heart or skeletal problems are sought. Ages and causes of death of close relatives are recorded. Physical examination of the patient for any sign of connective tissue disorder is undertaken. The examination is performed starting from the head down.

Diagnostic criteria

Diagnostic criteria for Marfan syndrome have been established. They include major and minor criteria and a formal system to help clinicians make decisions. This system is called the revised Ghent nosology. In tomorrow’s article we will discuss the criteria that together indicate a diagnosis of Marfan syndrome. The word syndrome means a collection of findings which together suggest a diagnosis …


Dr Child's Casebook: Appearances Can Be Deceptive – A Relative Anomaly. PART II
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