Abstract
INTRODUCTION: The novel coronavirus (SARS-CoV-2) is identified as the cause of coronavirus disease 2019 (COVID-19). Patients with COVID-19 commonly have liver enzyme abnormalities. Patients with elevated liver enzymes are more likely to have progression to severe COVID-19. We present a case of severe COVID-19 unmasking underlying hereditary hemochromatosis. CASE DESCRIPTION/METHODS: A 39-year-old Caucasian male otherwise healthy presented with cough and dyspnea. Patient was admitted for Coronavirus Disease (COVID-19). He was noted to have hepatocellular pattern liver enzymes elevation (Ast: 64, Alt: 241). He denied any personal/family history of liver disease or excessive alcohol use. Inflammatory markers including ferritin was high 3427 ng/ml. Transferrin saturation was > 80 %. Liver enzymes trended up in correlation with up trending ferritin: 3618 > 4496 > 5611, Alt: 285 > 456 > 653, respectively. Viral hepatitis serologies were negative. RUQ US with doppler was negative for portal vein thrombosis. HFE gene mutation analysis revealed one copy each of the C282Y and H63D mutations in HFE gene (compound heterozygous). Patient had prolonged hospital course due to severe COVID-19 and he received hydroxychloroquine, lopinavir/ritonavir, tocilizumab, and convalescent plasma. Patient recovered from COVID-19 after prolonged hospital course. Ferritin and liver enzymes were gradually trending down at the time of discharge. DISCUSSION: Hereditary hemochromatosis (HH) is a disease that results from HFE gene mutations leading to iron overload. Most individuals with HH are homozygous for C282Y mutation. 3-8% of patients are compound heterozygous for C282Y and HFE gene mutations. Only up to 2% of these individuals have clinical manifestations of hemochromatosis. Environmental factors and diseases can lead to iron overload in these patients. Severe COVID-19 in this patient unmasked underlying hemochromatosis due to elevation in ferritin secondary to acute viral infection. Reporting cases like this will help understand effect of COVID-19 on underlying iron overload diseases.
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