HFE-Associated Hereditary Hemochromatosis Clinical Trial
Official title:
Estimation of Myocardial Iron Overload by 3 Tesla MRI and Cardiac Functional Consequences in Patients With HFE Hereditary Haemochromatosis. Pilot Study
Hereditary haemochromatosis (HHC) is a frequent disease in Brittany (5 to 7‰), responsible
first for biological disorder in blood iron parameters and minor clinical disorders, before
evolving to potential life-threatening consequences such as diabetes, liver cirrhosis and
congestive heart failure.
The improvement of screening and treatments made those severe affections rare enough not to
evaluate myocardial iron overload a systematic part of the starting check-up. Nonetheless
this myocardial iron overload might have severe implications on cardiac function on a long
term basis.
A single trial was conducted on limited number of patients with 1.5 Tesla MRI, which showed a
myocardial iron overload (defined by a myocardium T2* value <20ms) in 19% of the subjects.
The main objective of this study is to precisely estimate cardiac iron overload in treatment
naive patients with newly diagnosed HFE hereditary haemochromatosis with a 3 Tesla MRI, more
sensitive than the 1.5 Tesla one, in order to later appreciate its correlation with cardiac
morbidity in HHC.
Since the wide use of phlebotomy was implemented the incidence of congestive heart failure in
HHC became quite low. As such, the interest towards the initial diagnosis and cardiological
follow-up has been lesser. A subclinical myocardial iron overload can nevertheless exist and
eventually lead to functional consequences in the medium and long term if neglected, even
evolve into heart failure and preserved ejection fraction.
The expected aftermath of this study is :
- The estimation of the frequency of myocardial iron overload measured by 3 Tesla MRI in
patient with HFE hereditary haemochromatosis;
- The assessment of its consequences on heart function;
- The appreciation of a cardiological assessment strategy in patients with HFE hereditary
haemochromatosis.
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