Kylie, the mystery rash and the medieval treatment that keeps it at bay

Haemochromatosis is the commonest single gene disorder in northern Europe: roughly one in 200 Caucasian people is genetically susceptible.

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Danny’s rash had no diagnostic features, so I suggested running some blood tests to try to work out what was going on. He appeared worried that it hadn’t proved straightforward.

“Where do think it’s come from, then?” he asked.

His choice of words tweaked my antennae. Usually a patient will ask, “What do you think is causing it?” or: “Am I allergic to something?”

“You’re worried about where it’s come from?” I echoed back.

Danny paused for a second.

“It was after a Kylie concert down in London,” he said. He rolled his eyes in a pantomime of What-Am-I-Like. “Such a gay thing to do.”

“You’re concerned this might be HIV?”

He nodded, his expression glum that now his underlying fear had been articulated.

People exposed to HIV often undergo a seroconversion illness two to six weeks later as the virus takes hold. A rash can be a feature. Danny told me his skin had first flared a few weeks after the Kylie-concert encounter. Although the timing was suggestive, I didn’t think HIV was likely. His rash was itchy, for one thing; and it had persisted for some time.

So I made reassuring noises, but offered to add an HIV test to the investigations. I asked him to book a follow-up appointment: it’s never a good idea to find yourself discussing potentially difficult news on the phone.

The HIV test came back negative, but among the other results was a big surprise. I’d checked Danny’s iron levels – iron deficiency is a frequent cause of skin itch. Far from being deficient, however, Danny was super-saturated. There’s really only one explanation for such a picture – a disease called haemochromatosis – but as far as I was aware this condition didn’t cause a rash. A couple of minutes later, though, Google had turned up two reports of rare cases presenting exactly as Danny’s had done.

For most of us, iron is poorly absorbed from food; the small amount we extract roughly balances the daily losses through normal bodily function. People with haemochromatosis, however, are abnormally efficient at absorbing dietary iron, and because they cannot excrete the excess, over decades they accumulate vast stores. Eventually, the inexorable deposition of iron begins to damage their tissues, causing liver cirrhosis and cancer, and heart failure. The treatment sounds medieval but it’s effective: sufferers undergo frequent bloodletting – a pint every week in the early phases of therapy – in order to leach the iron back out.

Haemochromatosis is the commonest single gene disorder in northern Europe: roughly one in 200 Caucasian people is genetically susceptible. But progression to clinical haemochromatosis happens much less frequently. It’s unusual for women to develop the condition – the menstrual cycle helps prevent iron reaching toxic levels – and anyone who donates blood is also unknowingly protecting himself. Variations in diet, together with subtle interplays with other relevant genes, probably keep many other susceptible people from developing the disease.

These days, genetic tests also allow screening of individuals with a positive family history. If confirmed as genetically vulnerable, they can be monitored, and treatment can commence well before any organ damage occurs. There was no apparent history in Danny’s family but when we discussed things at his follow-up appointment it became clear why: he explained he had been adopted as a baby, and nothing was known of his birth parents.

I sent him to a specialist for a liver biopsy. The news was excellent: no sign of scarring or cirrhosis. A crash course of bloodletting brought his iron levels lower, and maintenance bleeds will keep him out of trouble long term. The origin of his condition lay in a family he knew nothing about. Fortunately, his fear that it had originated one night after a Kylie concert prompted him to seek medical advice that established the true diagnosis while there was still time to do something about it.

The Haemochromatosis Society aims to support those affected by the condition: haemochromatosis.org.uk

Phil Whitaker is a GP and writes the New Statesman’s “Health Matters” column. His books include Chicken Unga Fever: Stories from the Medical Frontline (Salt)

This article appears in the 04 June 2015 issue of the New Statesman, The myths of Magna Carta

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