Background and Aims

Ataxia-telangiectasia (AT) is associated with high incidence of malignancies. Most patients do not survive beyond the age of 30.
AT is often associated with abnormal liver function tests, and nonspecific liver histological changes. Since 1979, development of hepatocellular carcinoma (HCC) has been reported in four patients. A case of a 36-years-old male with AT treated for HCC is described

Methods

Clinical case description.

Results

AT was diagnosed at 2 years age out of neurological signs, telangiectasia, elevated levels of alpha-fetoprotein and genetic test positive for mutation on ATM gene. Patient became wheelchair-bound during his second decade of life. Comorbidities are hypotiroidism, insulin resistance, and chronic pleural effusion after acute pericarditis.

In 2017, at the age of 35, annual liver ultrasound showed a well-defined mass of 3.77cm in the right lobe. Magnetic resonance (MRI) revealed a typical HCC. Serological and molecular markers for hepatitis, EBV and CMV were negative. After multidisciplinary discussion, local treatment was identified as the best therapeutic option.

A successful and uncomplicated transcatheter arterial chemoembolization (TACE) was done in June 2017. Periodical MRI showed complete remission for 12 months. Then, HCC relapsed and two further treatments with TACE plus LUMI^TM radiopaque beads were performed. Six months after the last TACE, April 2019 MRI showed six new 7mm HCC lesions around the necrotic main lesion.

Patient is well. Liver function is fair. Elevated AFP levels (200ng/mL) remain as before the diagnosis of HCC.

Conclusions

HCC is rare in AT, local treatment can be addressed with caution for x-ray exposition and AT complications.