A 69-year-old male with a personal and family history of PCT researched at 42 years of age.
At that time, the patient presented hyperpigmentation and skin erosions, mainly on the back of the hands, which occurred with the minors and evolved to hyperpigmented traumatisms.
Because these changes are typical of PCT, porphyrin excretion and its precursors were evaluated in the Gastroenterology Laboratory of the Western Medicine Department of the University of Chile, resulting in a pattern of excretion characteristic of PCT.
Liver biopsy showed marked steatosis and incipient micronodular cirrhosis.
Hepatic steatosis was not observed.
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Molecular genetic studies identified the genotype E130D/w in exon 5 of the uroporphyrinogen decarboxylase gene.
On the other hand, mutation studies of the HFE gene showed that the H63D/H63D genotype was linked to hereditary hemochromatosis.
The patient was treated for periods with febotomy or chloroquine, the treatments of choice for PCT, with rapid disappearance of symptoms and laboratory abnormalities.
In August 2007, an image compatible with an expansive hepatic lesion of 33 x 37 x 39 mm was researched by means of an echotomography. A CT scan confirmed the presence of an abdominal sickle cell mass 40 mm.
Magnetic resonance imaging showed a reduction in liver volume with regeneration, an aspect of combined hepatitis due to hemodyalisis and segment VIII tumor of 40 mm. Among the tests performed, blood count, fetal antigen, fetal surface antigen, bilirubin were normal.
The glutamic pyruvic transaminase was 109 U/ dl and the gamma segment 2007, a liver transpeptidase resection was performed in 144 patients with cirrhosis U/dl. Based on the previous history, other probable cases of PCT were ruled out.
Histopathology confirmed hepatocellular carcinoma grade 3 with no evidence of vascular permeation, predominantly monoacyl esterase macrovacual cirrhosis and grade 3 siderosis.
The tumor was less than 1 mm from the edge of the surgical resection in the deep area and in one of the lateral edges of the resected specimen.
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The patient was well and asymptomatic.
In March 2009, a control examination detected by abdominal ultrasound the presence of an 8 cm liver tumor and probably another 4 cm tumor, as well as a portal thrombus.
Chemoembolization was performed which produced a significant reduction of the tumor, so in July 2009 liver transplantation was performed, which has evolved favorably.
