Maria Carrabba, Italy

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Internal Medicine, Rare Diseases Unit

Presenter of 2 Presentations

Poster Display Immune dysregulation & autoimmunity

DOES EPSTEIN-BARR VIRUS INTENSIFY LYMPHOPROLIFERATION IN ADULTS WITH PRIMARY ANTIBODY DISORDERS?

Lecture Time
10:10 - 10:11
Room
Poster Area
Date
19.09.2019, Thursday
Session Time
10:00 - 17:00
Board Number
79
Presentation Topic
Immune dysregulation & autoimmunity

Abstract

Background and Aims

In patients with Primary Immunodeficiency Disorders (PID), Epstein-Barr-virus (EBV) can lead to lymphoproliferation. In some PID, genetics increases susceptibility to EBV infection. In our cohort of 55 patients with Common Variable Immunodeficiency Disorder (CVID) annually screened for plasmatic EBV-DNA, two patients resulted positive. Both developed lymphoproliferation.

Methods

Clinical case presentation

Results

#1-Patient was diagnosed for CVID at the age of 46y-o. Lymphadenopathy and splenomegaly were present. She is compound heterozygous carrier of two disease-related mutations on TACI. After 3 years of follow-up, EBV-DNA was isolated in blood, with fluctuating levels (450-3868genomes/mL). Two years after the first positive result, Burkitt lymphoma rose out, that remitted after chemotherapy. Blood EBV-DNA is actually undetectable.

#2-Patient had relapsing Evans Syndrome since 2004, at the age of 11y-o. In 2005, rituximab was given for relapsing AIHA. In 2010 diagnosis of ALPS was done (no mutations found in ALPS-related-genes). In 2015, CVID was diagnosed, but patient refused Igs supplementation. In 2016, EBV-DNA was isolated in blood (1580genomes/mL). In 2017, he developed AIHA refractory to Igs and steroids, responsive to rituximab (low-dose scheme) plus Igs replacement therapy. Blood EBV-DNA became undetectable. Six months later it increased to 23910genomes/mL. Patient developed fever and lymphoadenopathy. FDG-PET CT-scan is high suspected for lymphoma as scans done since 2008. The patient is heterozygous carrier of a variant on CTLA-4 gene of unknown significance.

Conclusions

CVID patients need periodic molecular screening for EBV-DNA. If positivity to EBV is found, intensive surveillance for malignancy arising is mandatory, especially in those patients genetically predisposed to EBV-infection.

Hide
Poster Display Malignancy and PID

HEPATOCELLULAR CARCINOMA IN AN ADULT PATIENT WITH ATAXIA-TELEANGIECTASIA

Lecture Time
10:20 - 10:21
Room
Poster Area
Date
20.09.2019, Friday
Session Time
10:00 - 17:00
Board Number
21
Presentation Topic
Malignancy and PID

Abstract

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 LUMITM 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.

Hide