A Country Doctor Writes:

I had seen him now and then, but he didn’t come in very often. He was on the thin side, a hard core smoker with chronic bronchitis. But he was still running some borderline blood sugars, a quick chart review revealed.

One day, he came in with a few months of increased “arthritis” in his shoulders, neck, back, knees and hips. There was no sign of small joint synovitis, but the range of motion in his shoulders was poor, and he had a little trouble getting up from his chair without using his arms.

“Polymyalgia Rheumatica?”, I thought, but also remembered how people with lung cancer can develop all kinds of musculoskeletal pain. He had had a screening chest CT not too long ago. So I ordered a sedimentation rate and prescribed some low dose prednisone and asked him to come back in a week.

A week later he was only a little more limber, and his sed rate was only 28, not exactly diagnostic.

As I sat there and looked at him, thinking about what to do next, I made the observation that his skin was a little dark for the time of the year and his ethnic background. Then I looked at his fingernails, brown. Not just the ones that held his cigarette, but all of hem, even his pinkies.

I quickly clicked to his lab section in the EMR to check what kinds of lab tests had been done over the past year or so. His CBCs had not changed much over the past few years, and I had just checked one when I did his sed rate. His chemistry profiles had been okay except for those borderline blood sugars. Nothing more had been checked.

“What?” I thought to myself.

“Hyperpigmentation, Addison? No symptoms, and the nails…”

“Iron”, was my next thought. “Could he have hemochromatosis?”

I’ve never diagnosed a case of it before.

“It is possible that all these pains could have something to do with your iron levels”, I told him. “I hate to do this, but would you mind giving us some more blood for some extra testing?”

Sure enough, his iron level was elevated. I made a referral to hematology.

I was away for a little while and my first day back he was in my schedule for “Followup blood sugars”. He had seen a colleague for urinary frequency and turned out to have a very high random glucose and a glycosylated hemoglobin of 8. He had fallen into the trap of quenching his thirst, which was caused by spilling sugar in his urine, with juice and soda.

Scanning further in the EMR, I saw than the hematology report was back. It spelled out all the possible complications of hereditary hemochromatosis: Joint pain, fatigue, unexplained weight loss, abnormal bronze or gray skin color, abdominal pain, cirrhosis, diabetes, heart disease…

The lesson for me was the nail discoloration, which isn’t often mentioned in the medical texts; I remember noticing it before, but always assumed it was just nicotine staining. I never looked at all his nails. And I should have.