Clinical trial: Analysis of the Modulation of Serum Hepcidin Level in Response to Iron Oral Intake: Potential Interest for the Differential Diagnosis Between Ferroportin Disease and Dysmetabolic Hepatosiderosis. (NCT01949467)

Eligibility criteria:
Inclusion Criteria for patients:

          -  Man or woman older than 18 years

          -  Subject having a liver iron overload greater than or equal to 100 umol /g dry liver
             weight, confirmed by MRI (done performed with body antenna and complete deactivation
             of the surface antenna) and / or by biochemical assay on liver biopsy, and related to
             dysmetabolic hepatosiderosis or ferroportin disease.

               -  The ferroportin disease will be retained when patients will present an
                  hyperferritinemia without elevated transferrin saturation and a heterozygote
                  mutation in the gene encoding ferroportin.

               -  A dysmetabolic hepatosiderosis will be retained following the usual diagnostic
                  investigation including sequencing of the gene for ferroportin (mutation proven
                  negative), if patients do not show any other cause of iron overload and
                  hyperferritinemia is not related to excessive alcohol intake, non-metabolic liver
                  cytolysis (hepatitis C virus, wilson, autoimmune hepatitis, ...), hemolysis, or
                  inflammatory syndrome.

          -  Status towards the iron-depletive treatment : either no venesection performed
             (Dysmetabolic HepatoSiderosis and Ferroportin disease groups) or attack iron depletive
             treatment completed (Treated Dysmetabolic Hepatosiderosis and Treated Ferroportin
             Disease groups) with ferritin level less than 100 ng / ml, without anemia and with no
             venesection in the two last months.

          -  Having given a free and informed consent in writing

          -  Affiliate to the social security system.

        Exclusion Criteria for patients:

          -  Alcohol consumption greater than 30g/d

          -  Chronic inflammatory disease.

          -  HIV, HCV or HBV Infection.

          -  Blood donation in the last three months.

          -  Infection during the previous seven days before testing

          -  Staying in altitude (>1500 m) dating less than 2 months

          -  Night occupation or shift work.

          -  Pregnancy

          -  Exclusion period in the national register of persons suitable for biomedical research.

          -  Protected adults (judicial protection, guardianship and trusteeship) and persons
             deprived of liberty

        Inclusion criteria for healthy volunteers:

          -  Man or woman older than 18 years.

          -  Body Mass Index between 18 and 25 kg/m².

          -  Non smoker or quit smoking for more than 6 months

          -  Examen clinique normal. Normal clinical examination

          -  Normal ECG.

          -  Normal values for routine laboratory tests : serum iron, tranferrin saturation, CBC,
             ferritin, blood cell count C-reactive protein, AST, ALT, GGT, HDL and LDL cholesterol,
             triglycerides.

          -  Having given a free and informed consent in writing

          -  Affiliate or beneficiary to the social security system.

        Exclusion criteria for healthy volunteers :

          -  Progressive and/or chronic disease.

          -  Infection during the previous seven days before testing

          -  Drug use under 6 months.

          -  Alcohol consumption greater than 30g/d

          -  Medication ongoing or stopped from less than a week (except contraceptives).

          -  History of blood transfusion or martial treatment.

          -  Staying in altitude (>1500 m) dating less than 2 months

          -  Night occupation or shift work.

          -  Known infection by hepatitis B or C.

          -  Positive serology for HIV.

          -  Blood donation in the last three months.

          -  Pregnancy.

          -  Exclusion period in the national register of persons suitable for biomedical research.

          -  Protected adults (judicial protection, guardianship and trusteeship) and persons
             deprived of liberty.
No condition on gender to be admitted to the trial.
Accepts Healthy Volunteers
Subject must be at least 18 Years old.


Patient description (medical language): A 51-year-old man comes to the office complaining of fatigue and some sexual problems including lack of libido. The patient doesn't smoke or use any illicit drug.  Blood pressure is 120/80 mm Hg and pulse is 70/min.  Oxygen saturation is 99% on room air.  BMI is 24 kg/m2.  Skin examination shows increased pigmentation. Genotype testing is consistent with homozygosity for the C282Y mutation. Laboratory study shows transferrin saturation of 55% and serum ferritin of 550 μg/L. He is diagnosed as a case of hemochromatosis.

Patient description (patient's own words): I am 51 years old and I just came back from the doctor's office. I'm sick and tired of being that exhausted, reaching the point where me and my lovely wife are not touching each other anymore! I'm not smoking or doing drugs! My blood pressure was 120/80 mm Hg, and pulse was 70/min and my oxygen saturation 99%. My BMI is 24. My skin also turned a bit darker lately. He tested my genes and told me that I have a mutation of the C282Y gene. I also did lab tests where my transferrin saturation was 55% and serum ferritin was 550  μg/L. The doctor diagnosed me with iron overload.

Does the patient match the trial criteria? Contradiction