Acute intermittent porphyria (AIP) is an autosomal dominant metabolic disorder characterized by a deficiency in heme biosynthesis. Heme biosynthesis occurs throughout the body, but it is most prominent in the erythroblastic system and liver. AIP is a hepatic porphyria whereby the liver is the source of toxic heme metabolites. Clinical manifestations of AIP result from a genetic mutation that leads to partial function of porphobiliogen deaminase (PBGD). This causes an accumulation of upstream, neurotoxic metabolites. Symptoms include but are not limited to peripheral neuropathies, autonomic neuropathies and psychiatric manifestations. AIP can be life threatening and clinical signs and symptoms are often heterogeneous and non-specific. Therefore, it is important to be able to recognize these patients to make a prudent diagnosis and offer appropriate therapy. Here, we review the epidemiology, pathophysiology, clinical presentation, diagnosis, and management of AIP including the role of liver transplantation.

Metabolic syndrome is a major clinical disorder involving metabolic dysregulation characterized clinically with features of central obesity, insulin resistance (IR), type 2 diabetes, hypertension, and dyslipidemia. Metabolic syndrome is strongly associated with the rising prevalence nonalcoholic steatohepatitis, a leading indication for orthotopic liver transplantation in the Western world. The presence or recurrence of metabolic syndrome following liver transplantation can contribute to the development and recurrence of nonalcoholic fatty liver disease (NAFLD) in the liver allograft. In this review, we discuss the endogenous and exogenous drivers of post-transplant metabolic syndrome, role of chronic immunosuppression, and the prevalence and clinical significant of post-transplant metabolic syndrome on nonalcoholic steatohepatitis.

Liver disease is the leading cause of non-AIDS related morbidity and mortality in human immunodeficiency virus (HIV) infected patients. There are many causes of liver disease in these patients, most commonly co-infection with viral hepatitis or alcoholic liver disease. A far less commonly described entity is autoimmune hepatitis (AIH) in HIV patients. The relationship between HIV and autoimmune diseases is well-described in a few conditions such as systemic lupus erythematosus and diffuse infiltrative lymphocytosis syndrome; however, patients with HIV who subsequently develop autoimmune hepatitis (AIH) has rarely been described in the existing literature. Managing these coexisting morbidities requires careful monitoring, as treating AIH requires the further immunosuppression of an HIV-infected individual. Herein, we present two patients who were diagnosed with and treated for AIH while receiving concurrent highly active anti-retroviral therapy. This case series provides treatment outcome data for a situation that has heretofore been rarely reported.

Background/Aims: Endoscopic resection has become the preferred treatment approach for select early esophageal adenocarcinoma (EAC); however, the epidemiology of early stage disease has not been well defined. Methods: Surveillance Epidemiology and End Results (SEER) data were analyzed to determine age-adjusted incidence rates among major epithelial carcinomas, including EAC, from 1973 to 2017. The percent change in incidence over time was compared according to tumor subtype. Early T-stage, node-negative EAC without metastasis was examined from 2004 to 2017 when precise T-stage data were available. Results: The percent change in annual incidence from 1973 to 2017 was 767% for EAC. Joinpoint analysis showed that the average annual percent change in EAC from 1973 to 2017 was 5.11% (95% confidence interval 4.66, 5.56). The annual percent change appeared to plateau between 2004 and 2017; however, early EAC decreased from 2010 to 2017, with an annual percent change of -5.78%. Conclusions: There has been a 7-fold increase in the incidence of EAC, which was significantly greater than that of the other major epithelial malignancies examined. More recently, the incidence of early EAC has been decreasing. Approximately one in five patients has node negative, potentially resectable early stage disease. Clin Endosc 2022 Feb 11. [Epub ahead of print]

Esophageal cancer has a poor overall prognosis and is frequently diagnosed at a late stage. Conventional treatment for metastatic esophageal cancer involves chemotherapy and radiation. Local disease control plays a significant role in improving survival. Endoscopic spray cryotherapy is a novel modality that involves freezing and thawing to produce local ablation of malignant tissue via ischemic mechanisms. Spray cryotherapy has been shown to be effective, particularly for early T-stage, superficial esophageal adenocarcinomas. We present the case of a 72-year-old-male with locally recurrent stage IV esophageal adenocarcinoma and long-term survival of 7 years to date, with concurrent chemoradiation and serial cryoablation. He remains asymptomatic and continues to undergo chemotherapy and sequential cryoablation. The findings highlight the long-term safety and efficacy of cryotherapy in combination with chemoradiation, and suggest that cryoablation may have an additive role in the treatment of advanced stage esophageal adenocarcinoma.