Acute Intermittent Porphyria as a risk factor for hepatocellular carcinoma first case in Argentina.

MELITO, VIVIANA; VARELA, LAURA; ANTINUCCI, FLORENCIA; BRUTTI, JULIA; MAURETTE, RAFAEL; TOMASSI, LUCÍA; BUZALEH ANA MARIA; PARERA, VICTORIA; ANDERS, MARGARITA

Mar del Plata

Congreso; CONGRESO DE BIOCIENCIAS 2022; 2022

Sociedad Argentina de Investigación Clínica

The risk of hepatocellular carcinoma (HCC) is significantly increasedin patients with Acute Intermittent Porphyria (AIP), a metabolic diseasedue to heme synthesis dysfunction, compared to the generalpopulation. Most HCCs are asymptomatic and up to one-third developin non-cirrhotic patients. The aim is to report the first case of anAIP patient and a giant HCC. This is a 57-year-old female diagnosedwith AIP in 1986: urinary porphobilinogen (PBG) (49.1mg/24h,NV:≤2) and 5-aminolevulinic acid (10.3mg/24h, NV:≤4), PBG deaminase(30.03U/mlGR NV: 81.51±11.96) and genetic study (c.612G>Tmutation). The patient has been asymptomatic for more than 20years. She was negative for HCV, HBV and HIV and no alcoholic.In June 2022, she consulted the emergency room for abdominalpain and, an ultrasound was performed showing a large liver mass.An abdominal triphasic abdominal MRI showed a focal lesion of105x79mm that was enhanced with intravenous contrast compatiblewith a primary liver tumor (alpha-fetoprotein: 4400 ng/ml). Extensionstudies (chest tomography and bone scintigraphy) excluded secondarydisease and there was no evidence of vascular invasion. Thepatient had a performance status of 0 and presented no weight loss.As a finding, she had hyponatremia with inadequate secretion ofantidiuretic hormone. She was diagnosed with an early-stage HCCof the BCLC classification, and surgical resection was suggested.After performing liver volumetry, it was decided to do a two-stagesurgery to hypertrophy the left lobe (ALPPS surgery). Postoperativecomplications were ascites with parameters of portal hypertensionsecondary to a small size syndrome and spontaneous bacteremiadue to E. Coli. Currently, the patient is still hospitalized, and we areplanning to repeat alpha-fetoprotein and MRI one month after surgery.The pathological anatomy confirmed the diagnosis of HCC.In conclusion, this case highlights the importance of an HCC screeningprogram in AIP patients.