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

MELITO, V; VARELA,L; ANTINUCCI, F; BRUTTI, J; MAURETTE, R; TOMASSI, L; BUZALEH, AM; PARERA, V; ANDERS, M

Mar del Plata

Congreso; Reunion Anual Sociedad Argentina de Investigacion Clinica; 2022

SAIC

The risk of hepatocellular carcinoma (HCC) is significantly increased in patients with Acute Intermittent Porphyria (AIP), a metabolic disease due to heme synthesis dysfunction, compared to the general population. Most HCCs are asymptomatic and up to one-third develop in non-cirrhotic patients. The aim is to report the first case of an AIP patient and a giant HCC. This is a 57-year-old female diagnosed with 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>T mutation). The patient has been asymptomatic for more than 20 years. She was negative for HCV, HBV and HIV and no alcoholic. In June 2022, she consulted the emergency room for abdominal pain and, an ultrasound was performed showing a large liver mass. An abdominal triphasic abdominal MRI showed a focal lesion of 105x79mm that was enhanced with intravenous contrast compatible with a primary liver tumor (alpha-fetoprotein: 4400 ng/ml). Extension studies (chest tomography and bone scintigraphy) excluded secondary disease and there was no evidence of vascular invasion. The patient had a performance status of 0 and presented no weight loss. As a finding, she had hyponatremia with inadequate secretion of antidiuretic hormone. She was diagnosed with an early-stage HCC of the BCLC classification, and surgical resection was suggested. After performing liver volumetry, it was decided to do a two-stage surgery to hypertrophy the left lobe (ALPPS surgery). Postoperative complications were ascites with parameters of portal hypertension secondary to a small size syndrome and spontaneous bacteremia due to E. Coli. Currently, the patient is still hospitalized, and we are planning 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 screening program in AIP patients.