TFR2-related haemochromatosis in the Netherlands: a cause of arthralgia in young adulthood.

CONCLUSION: In patients with a combination of elevated TSAT and ferritin in the absence of anaemia, and after exclusion of HFE-related HH, rare forms of HH should be considered. In these cases, presentation with arthralgia in young adulthood, low hepcidin/ferritin ratio and/or liver iron content > 100 μmol/g form an indication for analysis of the TFR2 gene. Although type 3 HH is extremely rare, awareness of the disease among physicians is important in order to achieve an early diagnosis and prevent complications, such as liver damage.
PMID: 28276324 [PubMed - in process]

Source: The Netherlands Journal of Medicine - February 28, 2017 Category: Journals (General) Authors: Peters TM, Meulders AF, Redert K, Cuijpers ML, Rennings AJ, Janssen MC, Blijlevens NM, Swinkels DW Tags: Neth J Med Source Type: research