Meet the Experts: Haemochromatosis

 General hepatology

Stolz 2
Meet the Experts
14 April 2019 08:30 - 09:20

Question 1: What is required to make the diagnosis “Hemochromatosis”?

To discuss of the following points:

i.e. since homozygosity for p.C282Y in HFE is neither sufficient nor necessary to make the diagnosis hemochromatosis, what would be a practical case definition?
What is not hereditary hemochromatosis and when could phlebotomy be potentially harmful?
What are the differential diagnoses that should not be missed?


Question 2: How should patients with hemochromatosis be investigated and followed up once the diagnosis has been made?

To discuss of the following points:

How and when should hemochromatosis patients be included in an HCC surveillance program (HCC in non-cirrhotic liver)?
Which extra-hepatic investigations are required (test for endocrine disorders?, echo?)
Family screening?

Question 3: When should phlebotomy be started and what are the treatment goals?

To discuss of the following points:

Induction and maintenance phase of phlebotomy
Should ferritin levels be < 50µg/l or do we have to include the transferrin saturation?