4 Replies to “Donuts. Los Angeles.”

  1. Like Joey Ramone, MIss de Wilde has only been diagnosed by conjecture. She reports that “a lot of people say” she might have Marfan Syndrome, and I have no idea if she has ever been worked up for it.

    As this blog’s unofficial media quack, I’ll mention that there are plenty of people who are tall and skinny (Fat Elvis), but do not necessarily have Marfan Syndrome. The diagnostic criteria are complex, and it’s something I typically refer to a genetics specialist for full evaluation. The diagnosis before age 20 is especially challenging, as the full constellation of symptoms may not have emerged.

    Marfan Syndrome is important to recognize, because dilation of the aortic root is a prominent feature (60-80% of adult patients) and can result in dangerous complications. Anyone with an active lifestyle (e.g. donut-smashing rock star) or who might become pregnant needs good advice from a cardiologist.

    The Walker-Murdoch and Steinberg signs are easy to evaluate on oneself. They are typical of Marfan patients, but not diagnostic.

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