A 52-year-old man who consults for a second opinion on the need to perform a liver biopsy for the study of hypertransaminasemia detected two years ago in routine company analyses. His family history includes the death of his father of an unidentified etiology of epatic cirrhosis. Asymptomatic and performing social and work life without limits. He denies alcohol consumption. Physical examination shows metallic skin pigmentation and minimal non-painful hepatomegaly. The rest of the physical examination was normal, body mass index 23. Laboratory tests showed the following results: billirubin, albumin, transaminases AST and ALT, normal blood count and prothrombin time: glycemia 150 mg/dl; serum ferritin 950; transferrin saturation >45%, negative for hepatotropic virus. Normal abdominal ultrasound. He has undergone HFE genetic study being homozygous for the C282Y mutation. What would be the best recommendation with the available information?
This is a patient who already has a diagnosis of hemochromatosis, due to a positive genetic study and data of iron overload (IST >45% and elevated ferritin). Biopsy would be useful if the diagnosis is uncertain or if we would like to assess liver involvement that is not suspected with this analysis. The treatment of choice is phlebotomy.
Perform liver biopsy.
Perform hepatic MRI.
Initiate treatment with phlebotomies.
Start treatment with desferroxamine.
Start treatment with Vitamin E.
Biopsy would be useful if the diagnosis is uncertain or if we would like to assess liver involvement that is not suspected with this analysis.