RheumaView Insights · Notes from Key West
A Novelist’s Hands
A bronzed diabetic man with a swollen liver and sore knuckles is not five problems. He is a pattern.
I went to Key West for a few days off. The problem with being a rheumatologist is that the habit of looking at joints does not switch off when the plane lands, and by the second day I had convinced myself I was working. The reason was a house at 907 Whitehead Street, where Ernest Hemingway lived in the 1930s.
Most people go for the cats. There are about sixty of them on the grounds, and roughly half have extra toes. They all trace back to a white polydactyl cat named Snow White, given to Hemingway by a ship’s captain. Polydactyly in cats is an autosomal dominant trait, which is why the colony is still producing six-toed kittens almost a century later. I was standing in the garden watching one of them when I started thinking about heritable traits and extremities, and from there it was a short step to the man who used to live in the house.
The retrospective patient
Hemingway turns up constantly in medical writing as a diagnostic puzzle, and the diagnosis people keep reaching for is hereditary hemochromatosis. The argument is circumstantial. He had adult-onset diabetes, an enlarged liver, recurrent depression, and in his last years a bronzed complexion. The family history is harder to dismiss: his father, a sister, and a brother all died by suicide, and his granddaughter Margaux did as well. When he was examined at the Mayo Clinic in 1960, the physician noted a liver large enough to suggest hemochromatosis but decided against the biopsy that would have settled it, judging the bleeding risk too high.
Not everyone buys it. Andrew Farah, in a forensic account of Hemingway’s decline, argues that repeated head trauma, alcohol, and blood pressure that ran as high as 250/125 explain the picture better, and notes that iron studies may well have been checked at Mayo without leading anywhere. He has a point. The fair summary is that the diagnosis was plausibly raised during Hemingway’s life, never confirmed, and cannot be confirmed now. The HFE gene was not identified until 1996. So it stays a teaching case rather than a solved one, which is most of why it is useful.
What shows up on the films
The reason a rheumatologist pays attention is that hemochromatosis is one of the few metabolic diseases that declares itself in the joints, and the pattern is specific enough to read off a plain radiograph.
It tends to look like osteoarthritis in the wrong joints. Ordinary hand OA favors the distal interphalangeal joints. Hemochromatosis goes after the metacarpophalangeal joints, second and third most typically, and it does not spare the fourth and fifth the way OA usually does. You get joint space narrowing, subchondral sclerosis, and cysts. The detail worth knowing is the hook-shaped osteophyte on the radial side of the metacarpal head. Roughly a third of patients show radiographic arthropathy, and chondrocalcinosis shows up in the wrists, knees, and ankles.
The biochemistry behind it is reasonably well worked out. Ferric iron inhibits synovial pyrophosphatase, calcium pyrophosphate accumulates in cartilage, and that is the chondrocalcinosis on the knee film. The main thing to distinguish it from is CPPD disease. Hemochromatosis is usually more symmetric, involves all the MCPs rather than just the second and third, and produces those larger radial beaks; CPPD is likelier to leave the smaller MCP joints alone. These are not subtle distinctions once you know to look for them, but they are easy to miss if you read the film as plain osteoarthritis and move on.
The part that stays with me
What I keep thinking about is how little it would have taken. A serum ferritin and transferrin saturation are cheap and were available. A family history that anyone bothered to take seriously points straight at the diagnosis. And the treatment is phlebotomy, which is about as old and simple as medicine gets: you remove iron on a schedule and prevent the cirrhosis, the diabetes, and a good deal of the joint damage. The decline in diabetes and cirrhosis among hemochromatosis patients over the past several decades is mostly a story of catching it earlier.
None of this was hidden. It was in the hands, the liver, the skin, the family tree. Whether or not Hemingway actually had the disease, the case is a clean illustration of the thing I spend my days on: a bronzed diabetic man with a swollen liver and sore knuckles is not five separate problems. He is a pattern, and somebody has to read it.
I did go for the water, and I got plenty of it. But the afternoon in that garden, surrounded by cats carrying one stubborn inherited trait in their paws, was not far from the man who built the wall around the place. If the story is right, his genes left marks in his pancreas, his liver, his mood, and the edges of his metacarpal heads. We just couldn’t read them at the time. That is a useful thing to be reminded of, even on vacation.
Olga Goodman, MD
Internal Medicine · Rheumatology · Pediatrics
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