For a general review of hepatology, please see The Ultimate Hepatology Minicourse From The Curbsiders And Other Resources
Posted on January 3, 2020 by Tom Wade MD
In this post, I link to and excerpt from The Curbsiders‘ #380 Hemochromatosis with Elliot Tapper, 59:02, FEBRUARY 6, 2023 By DR ELENA GIBSON.
All that follows is from the above resource.
Recognize when to consider the diagnosis of hemochromatosis and how to recognize common mimics of an elevated ferritin level. We’re joined by Dr. Elliot Tapper,@ebtapper on twitter (University of Michigan)
Hemochromatosis Pearls
- Hereditary hemochromatosis is most commonly due to two inhereited genetic mutations in C282Y leading to overactive hepcidin.
- The genetic mutations associated with hereditary hemochromatosis are common but the penetrance is variable and much lower.
- Iron indices that increase the likelihood of hereditary hemochromatosis include ferritin >200 in females >300 males and TSAT >45% females or >50% in males.
- The differential diagnosis of an elevated ferritin and TSAT [Transferrin Saturation] in an inpatient setting is broad and iron indices to evaluate for hemochromatosis should be checked outside of acute hospitalization..
- Following a diagnosis of hereditary hemochromatosis, genetic testing is recommended for all first degree relatives.
- MRI has replaced liver biopsy as the standard to evaluate for evidence of hepatic iron overload.
- Phlebotomy is the mainstay of treatment for hemochromatosis
Hemochromatosis & Liver Disease Notes
Start here.
