Kim Shirley

We describe a patient with Castleman's disease with TAFRO syndrome and concurrent Sjögren's syndrome and investigate whether the autoimmune process may have accelerated the onset of her Castleman's disease. Patient was treated with R-CVP therapy with remission of symptoms although there is no current standard treatment.

Although MRH can mimic rheumatoid arthritis, its ability to rapidly progress to arthritis mutilans and association with malignancy in up to 25% of patients warrant prompt recognition and treatment along with age-appropriate malignancy work-up.

e16621 Background: Hepatocellular carcinoma (HCC) when localized to liver is typically diagnosed with Characteristic radiographic features while tumor tissue sampling is not warranted anymore. Recently, circulating tumor DNA (ctDNA) has been used to evaluate mutational profile in solid tumors in order to personalize treatments. However, it is not established well in HCC, specifically in Hispanic patients. This study aims to describe the mutational profile of Hispanic patients with ctDNA analysis as a single center experience. Methods: We enrolled 33 patients with diagnosis of HCC from 1/2016 to 12/2019. Diagnosis of HCC was based on Characteristic radiological features, defined by Liver Imaging Reporting and Data System (LI-RADS category 5). 18 patients self-identified as Hispanic while remaining were mainly Caucasians. FoundationOne Liquid genomic testing by Foundation Medicine was used for profiling of 77 most commonly mutated genes of sampled blood. Results: Baseline patient characteristics were similar between Hispanic and non-Hispanic population. Median age of diagnosis was 64 in this cohort with 23(70%) males and 10(30%) females. 30 patients had underlying cirrhosis with hepatitis C present in 19(58%) and heavy alcohol abuse in 15(45%) of cirrhotic. 32 patients had liver-only disease, while we had one patient with extrahepatic disease. 22 of these 33 patients had a single HCC lesion while 11 had multifocal HCC. 20 patients (60.6%) had at least 1 pathogenic mutation. 13 patients (39.4%) did not have any pathogenic mutations. The frequency of commonly mutated genes for our Hispanics versus non-Hispanics were following: CTNNB1(45.5% vs 44.4%), TERT (45.5% vs 55.6%), TP53(36.4% vs 55%), CNK2A (18.2% vs 0). Median of Allele frequency percentage was 0.81%. Mutations in TP53 was commonly detected at codon 249(R249S). Presence of these pathogenic mutations were associated with poor clinical features such as multifocal disease and higher AFP values > 59 as compared to 15 without mutations. Other mutations present at lower percentage include ERBB2, PIK3CA, DNMT3A, GNAS, KDR, RB1, PTEN and their frequency was similar in both Hispanic and non-Hispanic groups. Conclusions: Genomic profiling of ctDNA by liquid biopsy in our Hispanic patients with HCC appears similar to established mutational profile of HCC in Caucasian and Asian populations. These findings can be verified in heterogeneous populations in order to serve as a potential prognostic tool and help with personalized medicine.

Introduction: Hepatic encephalopathy (HE) is a neuropsychiatric syndrome resulting from liver dysfunction, leading to the accumulation of toxins in the bloodstream and causing a wide array of neurological symptoms. The concomitant presentation of HE with other neurological conditions presents a significant diagnostic challenge. Case Description/Methods: We report the case of a 56-year-old man with a history of metabolic dysfunction-associated steatohepatitis (MASH) cirrhosis who was evaluated for a liver transplant. Due to a BMI of 51.6 kg/m2, the transplant was deferred until the patient achieved a BMI of < 40 kg/m2. He was referred to endocrinology and prescribed topiramate/phentermine to aid in weight loss. Shortly after initiating these medications, the patient developed worsening confusion and somnolence. Despite discontinuing the medications, his symptoms persisted, leading to hospital admission. On evaluation, his MELD score was elevated at 25 (up from a baseline of 20), and his ammonia level was 60 (within normal limits). Infectious workup was negative, and the patient had no evidence of bleeding. The patient reported compliance with lactulose and rifaximin therapy at home, achieving approximately 4 bowel movements per day. His altered mental status was initially attributed to HE, and lactulose treatment was continued. However, the patient exhibited only mild improvement. Further history revealed that the patient's symptoms were not entirely consistent with his previous HE episodes. Notably, his wife reported myoclonic jerking in the lower extremities and hallucinations characterized by vocalizations toward imaginary figures as he fell asleep. Neurology consultation was obtained, and the patient was diagnosed with REM sleep behavior disorder (RBD). Treatment with clonazepam was initiated, leading to the resolution of symptoms and a return to baseline. Discussion: This case underscores the potential for HE to mask other neurological conditions, emphasizing the importance of a thorough history and comprehensive investigation in cirrhotic patients with persistent neurological symptoms despite standard HE treatment. Additionally, it calls for further research into parasomnias as a rare adverse effect of topiramate/phentermine therapy, an uncommon presentation not previously documented in the literature.