TO YOUR GOOD HEALTH: Rare liver disease can be difficult to treat
DEAR DR. ROACH: Our son passed away at 38 years old this past December with an end-stage alcohol-related liver disease. He had been sober for four years prior to this, but blood tests revealed that he had started drinking again. These same tests showed copper level readings in the 500s and liver deterioration in accordance with someone twice his age, which indicated the possibility of him having Wilson’s disease (a rare genetic liver disease).
He was in need of an immediate liver transplant, but this surgery wasn’t possible due to multiple varices, a large mass in his stomach, a failing kidney, and the fact that he would possibly bleed out from a surgery.
He had blood in his vomit and stools for at least two days (maybe more?) before going to the hospital. He hadn’t been feeling well for at least three weeks before then. He required over 11 units of blood during the first three to four days in the hospital and occasionally some after the treatment of his varices.
My question to you is, could his death have been prevented if he had gone to the hospital even a day earlier?
— B.Y.
ANSWER: I am very sorry for your son and for the fact that you have been dealing with potential guilt for so long. Wilson’s disease is, as you say, a rare genetic disease with abnormal copper metabolism, leading to copper deposition in the liver, eyes and brain. People with Wilson’s disease can have chronic liver disease or acute liver failure.
From what you are telling me, I think your son had did have chronic liver disease. (Varices are dilated blood vessels in the lower esophagus, which form due to high pressure in the portal veins of the liver, but this takes months or years to develop.) But I think he died of acute-on-chronic liver failure. The kidney disease and bleeding issues suggest this diagnosis.
A day or a week wouldn’t have made a difference. Making the diagnosis of Wilson’s disease years earlier so that he could have avoided high-copper foods and starting him on chelation treatment would have prevented this.
Having him avoid alcohol meticulously would have been helpful. Heavy alcohol use or binge-drinking on top of Wilson’s is very dangerous, and patients with Wilson’s are advised to avoid alcohol entirely.
During acute-on-chronic liver failure, a liver transplant can be lifesaving, but it does sound like it was too late, probably weeks too late for your son.
ToYourGoodHealth@med.cornell.edu.