After a Harvard endocrinology course several years ago, I walked out into the weak afternoon spring sunshine and crossed the street to the Boston Public Garden. Among the multitude of faces of the other flaneurs I was certain I saw scores of people suffering from endocrine diseases — probably undiagnosed, I thought to myself: I saw tall men with big jaws, typical of acromegaly; stout women with skinny extremities and flushed, puffy cheeks so typical of Cushing’s syndrome; hirsute, heavy set younger women sure to have polycystic ovary syndrome; long-legged beardless men, who seemed classic for Klinefelter’s; and other people I suspected to have Graves’ disease, Turner syndrome, hyperaldosteronism, Addison’s disease, and, oh, so many other obvious endocrinopathies.
Then back home, as the months and years passed, and as the never-ending presentations of chief complaints continued, my internal search for and classification of possible endocrine diagnoses began to take second place in my hierarchy of what I needed to do.
Yes, Ellen W. does look like she might have Cushing but she has so many issues that it feels a little esoteric to bring this up, too, when her diabetes and mood are out of control, her mother is dying and her husband is still unemployed and her insurance isn’t paying for any of her medicines.
And even if Doreen Fish has primary hyperaldosteronism, she’s already on spironolactone for her low potassium and her blood pressure is okay; a CT scan would cost her so much out of pocket, never mind surgery, and what are the odds she has surgical disease — an adenoma and not just adrenal hyperplasia?
But then I read the news and I get curious again.
Artificial intelligence and facial recognition are being used to diagnose or screen for genetic syndromes like DiGeorge and Williams; people are claiming to have identified facial features linked to autism spectrum disorders; psychiatry and general practice colleagues are sending out cheek swabs to help them prescribe psychiatric medications where I am “just” going by experience and intuition; and patients themselves are now looking into their own genetic profiles.
Shouldn’t I try to be more precise in this era of “precision medicine”? Definitely, with all the extra, mandated, ingredients in the primary care visit — screening for depression and alcohol use, clicking off BMI management and tobacco cessation counseling (not just doing them) — it is easy to slip away from just looking at your patients carefully into just glancing at them while also paying attention to the computer screen.
It takes some effort to consistently really look away from the computer, to clear your mind of all its distracting requirements, and to just observe the person in front of you — as if you just walked out of an endocrinology lecture and looked at the faces of strangers, wondering: What makes you look the way you look? Do you have a syndrome that guides your health and your appearance? Wouldn’t you, and your doctor, benefit from knowing that?
“A Country Doctor” is a family physician who blogs at A Country Doctor Writes:.
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