Alpha-1 antitrypsin deficiency is under-recognized in individuals with cirrhosis undergoing liver transplantation.

OBJECTIVE: Under-recognition of alpha-1 antitrypsin deficiency (AATD) is well documented in AATD-lung disease but is rarely reported in patients with liver cirrhosis requiring liver transplantation. This report examines the frequency of newly diagnosed AATD based on pathologic examination of explanted livers following liver transplantation, trends in diagnosis over time, and prognostic correlates of under-recognition outcomes following liver transplantation. METHODS: This study retrospectively reviewed 1473 pathology reports from adult patients (>18 years) undergoing liver transplantation at Cleveland Clinic between 2004 and 2017. Pathology reports of explanted livers exhibiting periodic acid-Schiff, diastase-resistant inclusion bodies (PAS+G) suggestive of AATD were included and medical records were reviewed regarding demographics, AATD genotype, alternative etiologies for cirrhosis, presence of emphysema, and survival outcomes. Kaplan-Meier estimates of survival outcomes were compared between patients diagnosed pre-liver transplantation and that newly diagnosed post-liver transplantation. RESULTS: Of 1473 explanted liver pathology reports examined, 117 (7.9%) showed PAS+G suggestive of AATD. The diagnosis of AATD in these 117 patients was established pre-liver transplantation in 36 (30.8%, group 1) and in 46 (39.3%) post-liver transplantation (group 2a). Testing for AATD was not undertaken in 35 (29.9%) of patients despite having PAS+G on explanted livers (group 2b). Post-liver transplantation survival analysis showed a trend (P = 0.098) towards enhanced survival in group 1 vs. group 2 at 10 years. CONCLUSIONS: This study shows that diagnosis of AATD is overlooked and frequently delayed in patients with cirrhosis undergoing liver transplantation. The observed trend towards higher survival in patients diagnosed with AATD pre-liver transplantation suggests the opportunity to enhance outcomes by earlier recognition of AATD.

Characterization of long-term prognosis in acute pancreatitis: An explorative analysis.

BACKGROUND/OBJECTIVES: Severity classification systems of acute pancreatitis (AP) assess inpatient morbidity and mortality without predicting outpatient course of AP. To provide appropriate outpatient care, determinants of long-term prognosis must also be identified. The aim of this study was to define clinical groups that carry long-term prognostic significance in AP. METHODS: A retrospective study that included patients admitted with AP was conducted. Determinants of long-term prognosis were extracted: These included Revised Atlanta and Determinant Based Classification (RAC), Charlson Comorbidity Index (CCI), Modified CT Severity Index (MCTSI), etiology, and local complications (LCs). Seven surrogates of morbidity up to 1 year after discharge were also collected and subsequently imputed into a clustering algorithm. The algorithm was set to produce three categories and multinomial regression analysis was performed. RESULTS: 281 patients were included. The incidences of morbidity endpoints were similar among the 3 RAC categories. Three clusters were identified that carried long-term prognostic significance. Each cluster was given a name to reflect prognosis. The limited AP had the best prognosis and included patients without LCs with a low co-morbidity burden. The brittle AP had a low co-morbidity burden and high MCTSI (LCs 94%). It ran a very morbid course but had excellent survival. The high-risk AP had the worst prognosis with the highest mortality rate (28%). They had a high co-morbidity burden without local complications. CONCLUSION: Categories that carry long-term prognostic significance in AP have been developed. This study could help formulate appropriate follow-up and ultimately improve AP outcomes.

Late-onset epilepsy with status myoclonicus: a diagnostic and management dilemma.

Status myoclonicus (myoclonic status epilepticus) has been described in generalized epilepsy syndromes, neurodegenerative disease, infectious or inflammatory neurologic disease, toxic-metabolic states, and following anoxic brain injury. It is extremely uncommon in elderly people. Hence, status myoclonicus can be a challenge to diagnose and manage especially if it is cryptogenic epilepsy (unknown cause). We describe the case of a 77-year-old female who had new-onset uncontrolled seizures despite three antiepileptic drugs. Following concern about nonepileptic events, she was eventually diagnosed by epilepsy monitoring to have status myoclonicus. Her seizures were then controlled with appropriate antiepileptic drug changes.