Cabrera et al reported an algorithm for the diagnosis of hereditary hemocrhtomatosis (HH). The authors are from Northwestern University, University of Barcelona and University of Texas Southwestern.
Patient selection: clinical suspicion of hemochromatosis
Presentation - one or more of the following:
(1) first-degree relative with established diagnosis of hereditary hemochromatosis
(2) fatigue, arthralgias, elevated transaminases
(3) hepatomegaly of unknown origin
(4) cardiomyopathy of unknown origin
Initial laboratory screening:
(1) serum transferrin saturation
(2) serum ferritin in ng/mL
Positive screen - one or more of the following:
(1) transferrin saturation >= 45%
(2) elevated serum ferritin (male and >= 300; female and >= 200)
Genetic testing for HFE variants is performed if the screen is positive or if there is a first-degree relative with HH.
Positive genetic testing:
(1) homozygous C282Y (indicates Type 1 HH)
(2) heterozygous C282Y/H63D or C282Y/S65C (need to exclude other causes)
Other causes of iron overload:
(1) non-HFE hereditary hemochromatosis
(2) primary red blood cell disorder
(3) transfusion
(4) hemolysis
(5) excessive parenteral or dietary consumption of iron
Workup of positive genetic testing:
(1) MRI of liver to determine hepatic iron concentration
(2) consider liver biopsy if serum ferritin > 1,000 ng/mL
(3) evaluate for phlebotomy
