OWEN FREEMAN/FOR THE WASHINGTON POST
In its later stages, hemochromatosis can cause cirrhosis and diabetes as well as heart failure. It is detected through blood tests, including one that measures serum ferritin, which, if elevated, may trigger a genetic test.
Unlike most genetic diseases, there is effective treatment, and it is simple: regular blood draws of about a pint or so to reduce iron levels, followed by maintenance phlebotomy to keep the iron level in check.
Williams said he immediately called his HMO and demanded the relevant tests. His ferritin level was 2,350, far above the 300 nanograms per milliliter generally considered the upper range of normal for men. He soon learned that he had inherited two copies of the gene and that his supposition was correct. Hemochromatosis, not alcohol abuse, explained the cascade of diseases that landed him in the hospital: cirrhosis, diabetes heralded by the abrupt vision changes, even the apparent case of the flu, which was actually ketoacidosis.
“I was just so pissed,” said Williams, who immediately began weekly phlebotomy sessions. Janas quickly discovered that, like her twin, she had inherited two copies of the gene and was in the early stages of the disease; she immediately began weekly blood draws and after eight months her ferritin reading dropped to a safe level. Their older brother learned he is a carrier, as is Janas’s teenage son; both are being monitored.
“She’s done well,” said Lee Resta, a Northern Virginia hematologist who has treated Janas since her diagnosis.
In May 2009, Williams obtained his hospital records. Buried in his discharge summary was something that left him reeling. Doctors had, in fact, tested his serum ferritin level and found it “markedly elevated” at 2,098 nanograms. They never ordered a genetic test because they thought the level was the consequence, not the cause, of his cirrhosis.
Resta said he finds the decision not to pursue the abnormal finding baffling. “With liver disease and a ferritin level of over 2,000,” he said, “why not check it?”
Williams said he has never received an explanation he considers satisfactory. He said he decided against filing a malpractice suit because there was no way to prove that the misdiagnosis caused harm; his liver damage had probably occurred well before his hospitalization.
He has tried to channel his anger into raising awareness of the disease and advocating for screening; several people he works with discovered they had the gene as a result of his experience, he said. Williams said he is scrupulous about taking care of himself, and faithfully injects his insulin and tests his blood sugar four times a day to control his diabetes. The specter of liver cancer, a consequence of irreversible cirrhosis, hangs over his head. It took nearly 18 months of weekly blood draws to reduce his iron to a safe level.
“The only reason I’m doing well is that he’s not,” observed Janas, who said she feels both guilty and grateful. “Without him, I’d just have gone on my merry way not knowing. But the pain that he went through, that my family went through . . .” she added, her voice trailing off.
“She’s the case of what happens when things are done correctly, and I’m the case of what’s done incorrectly,” Williams said. He remains furious that doctors wrote him off as an alcoholic in denial and wonders what might have happened if he hadn’t made the discovery that led to the truth. “It was the engineer in me that just wouldn’t let this go.”
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