Thread by @ebtapper

Elevated ferritin? Is it hemochromatosis? Probably not!

Join me for a quick-hit #livertwitter #tweetorial?

First in a series on diagnostic testing for liver disease #meded

Patients will tell us their diagnosis - if we are listening

In this @JAMAInternalMed teachable moment a patient with ⬆️AST/ALT & alcohol abuse was tested 4 hemochromatosis.

Ferritin = off the charts
Homozygous for HFE mutations
But did she have hemochromatosis?

See below!

jamanetwork.com/journals/jamai…

Hereditary hemochromatosis is:

1. A common auto-rec genetic condition of funky iron homeostasis(Fig1-2)
2. A complex state where genotype>>phenotype(Fig 3)
3. The cause underlying <2.8% of elevated liver enzymes.(Fig4)

Ferritin is:
1. Acute phase reactant! (Fig1 summarizes the epi of ⬆️⬆️ferritin)
2. Released by anything that causes liver-itis (from hep C to alcohol)
3. Speaking of... alcohol⬆️⬆️iron absorption. Although this mechanism was shown in mice(Fig2), it can be seen in people(Fig3)

To summarize:
1. High ferritin is common but does not equal hemochromatosis
2. Outpatients with high ferritin? Ask about alcohol!
3. Inpatients? Anything other than hemochromatosis

I hope you enjoyed this short #tweetorial. More on liver tests coming.