A 50-year-old man was referred to our unit because for two years he had serum ferritin concentration above 1,000 μg/l (normal range, 26-370).
The patient had serum ferritin (1,277 μg/l) and increased γGT (116 U/L; normal range, 10-60) and liver ultrasound led us to suspect a possible fatty liver.
Complementary laboratory and serological tests revealed no abnormalities.
The patient was asymptomatic.
She didn't drink alcohol or use tobacco.
Her personal and family medical history and physical examination did not reveal anything remarkable.
We analyzed markers of iron metabolism (serum iron levels, ferritin, soluble transferrin receptor and transferrin saturation index), and liver iron concentration and architecture of liver tissue by liver biopsy.
The sections of liver tissue were stained with hematoxylin-eosin, and blue dye for persistent detection of iron.
We studied the image obtained by liver magnetic resonance imaging (MRI).
We also looked for allelic variations c.845G>A (p.C282Y) and c.187C>G (p.H63D) in the HFE gene.
Genomic DNA was extracted from a sample of peripheral blood. Polymerase chain reaction (PCR) was performed using specific oligonucleotides to amplify the coding regions, the intronic regions of HGF-R1 receptor.
PCR products were bidirectionally sequenced in DNA sequencer ABI Prism 317.330x1, and sequences were compared with reference ones (numbers of decay0.187_N7.115, NBank, respectively).
Informed consent was obtained from the patient according to local recommendations for genetic study and liver biopsy.
The study protocol was conducted according to the ethical principles of the Declaration of Helsinki (2008).
The patient's iron parameters were: serum ferritin, 1.070 μg/l (normal range, 26-370 μg/l); serum iron, 160 μg/dl (normal range, 59-158 μg/dl); transferrin saturation,
Hepatic magnetic resonance imaging showed diffuse abnormalities of parenchymal intensity associated with increased iron; hepatic iron content was estimated at 160 μmol/g (normal values, < 36 μmol/g).
Ultrasound guided percutaneous liver biopsy was performed.
Histopathological evaluation showed normal lobular architecture, narrow portal spaces without inflammation or fibrosis and without vascular or ductal lesions.
The lobe was composed of hepatocytes with normal morphology and low-intensity deposits of hemosiderin, with the typical pattern of hemochromatosis, i.e., iron deposits located almost exclusively in peri-canal granular areas.
The patient underwent phlebotomy treatment and, after 20 fortnightly phlebotomy, more than 5 g of iron were eliminated, and γGT and ferritin concentrations returned to normal values.
Currently, the patient undergoes maintenance phlebotomy twice a year.
Molecular study of the genes involved in iron metabolism showed the following allelic variants in heterozygous state: c.187C>G (p.H63D) in the HFE gene and c.840.
